114 results on '"Fabry disease"'
Search Results
2. Neurootologische Manifestationen bei Morbus Fabry – eine retrospektive Analyse.
- Author
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Storck, Katharina, Stenzl, Anna, Regenbogen, Claudia, Hofauer, Benedikt, and Knopf, Andreas
- Abstract
Copyright of HNO is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Published
- 2024
- Full Text
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3. [Importance of lysosomal storage diseases in rheumatology].
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Aries C, Rudolph C, and Muschol N
- Subjects
- Humans, Rheumatology, Diagnosis, Differential, Evidence-Based Medicine, Lysosomal Storage Diseases diagnosis, Lysosomal Storage Diseases genetics, Rheumatic Diseases diagnosis, Rheumatic Diseases genetics, Rheumatic Diseases blood
- Abstract
Lysosomal storage diseases are a group of rare hereditary metabolic diseases. Due to a deficiency of lysosomal enzymes, complex substrates accumulate in the lysosomes of various organs. Depending on the affected enzyme, this results in clinically variable and chronic progressive multiorgan diseases. Diagnosis is often delayed. As clinical symptoms include the musculoskeletal system, an awareness of lysosomal storage diseases is of relevance to (pediatric) rheumatologists. This article is focused on Mucopolysaccharidosis type I‑S, Mucolipidosis type III, Gaucher disease and Fabry disease. When suspecting a lysosomal storage disease, enzyme activity should be determined in dried blood spots or leukocytes. For some diseases, specific biomarkers can additionally be analyzed. Diagnosis should be confirmed by genetic testing. As causal treatment options are available for three of the presented diseases, a timely diagnosis is very important., (© 2024. The Author(s), under exclusive licence to Springer Medizin Verlag GmbH, ein Teil von Springer Nature.)
- Published
- 2024
- Full Text
- View/download PDF
4. [Neuro-otological manifestations in Fabry disease-a retrospective single center study].
- Author
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Storck K, Stenzl A, Regenbogen C, Hofauer B, and Knopf A
- Subjects
- Humans, Male, Female, Young Adult, Adult, Middle Aged, Retrospective Studies, Fabry Disease complications, Fabry Disease diagnosis, Hearing Loss diagnosis, Hearing Loss etiology, Deafness, Lysosomal Storage Diseases complications
- Abstract
Background: Fabry disease (FD) is one of the X‑linked lysosomal storage diseases that can affect any organ. They have a specific lysosomal dysfunction in common, which results in substrate accumulation in lysosomes instead of metabolite degradation. Due to the deficiency/absence of α‑galactosidase, globotriaosylceramides (Gb3) are deposited in lysosomes of the organs. In addition to acroparesthesia, angiokeratomas, autonomic dysfunction, vortex keratopathies, ischemic cerebral or cardiac complications and chronic renal failure, also vestibulocochlear dysfunctions with sudden or progressive asymmetric hearing loss, tinnitus and vertigo may be observed., Patients and Methods: In this retrospective study, 33 patients (men = 16 and women = 17) with FD were evaluated. All patients presented to us in interdisciplinary cooperation as part of routine examinations by the specialized center for lysosomal storage diseases of the in-house department of nephrology. This presentation is carried out as a screening examination independent of neuro-otological symptoms., Results: The mean age at diagnosis was 34.76 (±11.55) years. The first presentation in our ENT department was at 40.45 (±11.71) years. We were able to demonstrate a significant correlation between neurological symptoms or apoplexy and hearing loss (p = 0.001) and between cardiac manifestations and hearing loss (p = 0.024)., Conclusion: Hearing loss is a potential symptom of Fabry disease and is not limited to the classic male phenotype. Due to possible positive correlations with neurological and cardiological manifestations of the disease, routine ENT screening examinations should be carried out to be able to identify and treat neuro-otological deficits at an early stage. In addition, FD should also be considered and tested as a differential diagnosis, especially in younger patients with sudden unilateral or bilateral hearing loss and a family history., (© 2023. The Author(s).)
- Published
- 2024
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5. Diffuse hyperkeratotische Papeln am unteren Abdomen und im Genitalbereich bei einem 38‑jährigen Patienten.
- Author
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Kuntz, T., Mitrakos, G., Koushk-Jalali, B., Oellig, F., Eismann, L., Tigges, C., and Kreuter, A.
- Abstract
Copyright of Der Internist is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Published
- 2020
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6. Morbus Fabry: Behandelbar, aber oft spät erkannt
- Author
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Einecke, Dirk
- Published
- 2023
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7. Genetische Herzerkrankungen und Speichererkrankungen mit kardialer Beteiligung.
- Author
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Czepluch, Frauke S. and Hasenfuß, Gerd
- Abstract
Copyright of Der Internist is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Published
- 2018
- Full Text
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8. [Cardiac MRI in nonischemic cardiomyopathies]
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Christian, Lücke and Matthias, Gutberlet
- Subjects
Cardiomyopathy, Dilated ,Humans ,Fabry Disease ,Reproducibility of Results ,Cardiomyopathies ,Magnetic Resonance Imaging ,Arrhythmogenic Right Ventricular Dysplasia - Abstract
The classification of cardiomyopathies used in Germany goes back to the European Society of Cardiology (ESC) classification of 2008. The cardiomyopathies are subdivided according to the phenotype, so that magnetic resonance imaging (MRI) is able to differentiate between the various cardiomyopathies.The strength of MRI is the ability to differentiate nonischemic cardiomyopathies from other diseases with similar morphofunctional aspects, based on the possibilities of tissue differentiation. In the case of dilated cardiomyopathy (DCM), for example, a differentiation from inflammatory DCM is possible. In the case of hypertrophic cardiomyopathy (HCM), obstructive and nonobstructive forms can be differentiated analogously to the echo but amyloidosis or Fabry disease can also be detected. Evaluation of the right ventricular function is reliable in arrhythmogenic right ventricular cardiomyopathy (ARVC). The use of MRI is also able to directly detect the characteristic fibrofatty degeneration. In the rare restrictive cardiomyopathies (RCM), MRI can track restriction and, for example by means of T1, T2 and T2* mapping, detect sphingolipid accumulation in the myocardium in the context of Fabry disease or iron overload in the context of hemochromatosis.The quantitative methods of parametric mapping provide the possibility of treatment monitoring but the clinical relevance of this monitoring is still the subject of current research. The unclassified cardiomyopathies can present clinically with similar symptoms to ischemic or inflammatory diseases, so that in the case of myocardial infarction without obstructive coronary arteries (MINOCA) in cardiac catheterization, MRI is a decisive diagnostic tool to determine the actual underlying disease. Similarly, in new cardiomyopathies such as noncompaction cardiomyopathy, MRI can pave the way for a morphological disease definition.HINTERGRUND: Die in Deutschland angewandte Einteilung der Kardiomyopathien geht auf die Klassifikation der Europäischen Gesellschaft für Kardiologie (ESC) von 2008 zurück. Dort werden sie nach ihrem Phänotyp unterteilt, so dass die Magnetresonanztomographie (MRT) in der Lage ist, die unterschiedlichen Kardiomyopathien zu differenzieren.Die Stärke der MRT ist es, anhand der Möglichkeiten der Gewebsdifferenzierung nichtischämische Kardiomyopathien von anderen Erkrankungen mit ähnlichen morphofunktionellen Aspekten zu differenzieren. So gelingt im Fall der dilatativen Kardiomyopathie (DCM) eine Differenzierung zur inflammatorischen DCM. Im Fall der hypertrophen Kardiomyopathie (HCM) kann analog zur Echographie eine obstruktive und nichtobstruktive Form differenziert werden, aber auch die Detektion einer Amyloidose oder eines Morbus Fabry ist möglich. Die Evaluation der rechtsventrikulären Funktion gelingt im Rahmen einer arrhythmogenen rechtsventrikulären Kardiomyopathie (ARVC) zuverlässig. Außerdem ist die MRT in der Lage, die charakteristische fettige Ersatzfibrose direkt nachzuweisen. Bei den seltenen restriktiven Kardiomyopathien kann sie die Restriktion nachvollziehen und z. B. mittels T1-, T2- und T2*-Mapping die Sphingolipid-Akkumulation im Myokard bei einem Morbus Fabry oder eine Eisenüberladung bei Hämochromatose nachvollziehen.Die quantitativen Verfahren des parametrischen Mappings bieten die Möglichkeit eines Therapiemonitorings; die klinische Relevanz dieses Monitorings ist aber noch Gegenstand aktueller Forschung. Die unklassifizierten Kardiomyopathien können sich klinisch mit ähnlicher Symptomatik wie ischämische oder inflammatorische Erkrankungen präsentieren, so dass im Fall eines Myokardinfarkts ohne verschlossene Koronararterien („myocardial infarction without obstructive coronary arteries“, MINOCA) in der Herzkatheteruntersuchung die MRT ein entscheidendes diagnostisches Instrument ist, um die tatsächlich zugrundeliegende Erkrankung festzustellen. Gleichermaßen kann sie bei neuen Kardiomyopathien wie der Non-compaction-Kardiomyopathie der Wegbereiter für eine morphologische Krankheitsdefinition sein.
- Published
- 2022
9. Hereditäre Nierenerkrankungen des Erwachsenenalters.
- Author
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Braunisch, M., Günthner, R., Satanovskij, R., and Heemann, U.
- Abstract
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- Published
- 2017
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10. Enzymersatztherapie bei Morbus Fabry.
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Grundmann, F., Benzing, T., and Kurschat, C.
- Abstract
Copyright of Der Nephrologe is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Published
- 2015
- Full Text
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11. [Diffuse hyperkeratotic papules of the lower abdomen and genital region in a 38-year old male patient]
- Author
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T, Kuntz, G, Mitrakos, B, Koushk-Jalali, F, Oellig, L, Eismann, C, Tigges, and A, Kreuter
- Subjects
Adult ,Male ,Skin Neoplasms ,alpha-Galactosidase ,Abdomen ,Fabry Disease ,Humans ,Enzyme Replacement Therapy ,Genitalia ,Glycosphingolipids ,Angiokeratoma - Abstract
A patient with diffuse angiokeratomas of the lower abdomen and genital region was diagnosed with Fabry disease on the basis of genetic testing. Fabry disease is an X-linked lysosomal storage disease that can affect several organ systems including the heart or kidneys, resulting in reduced median survival. Pathogenetically, Fabry disease leads to a deficiency of the lysosomal enzyme α‑galactosidase A (α-GAL A). Treatment options include lifelong enzyme replacement therapy or chaperone therapy.
- Published
- 2020
12. Morbus Fabry.
- Author
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Üçeyler, N. and Sommer, C.
- Abstract
Copyright of Der Schmerz is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Published
- 2012
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13. Verschiedene Formen der linksventrikulären Hypertrophie.
- Author
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Weidemann, F., Störk, S., Herrmann, S., Ertl, G., and Niemann, M.
- Abstract
Copyright of Herz is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Published
- 2011
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14. Morbus Gaucher, Mukopolysaccharidose Typ I (Scheie) und Morbus Fabry.
- Author
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Michels, H., Mengel, E., Huppertz, H., and Schaefer, R.
- Abstract
Copyright of Monatsschrift Kinderheilkunde is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Published
- 2006
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15. Hereditäre Stoffwechselerkrankungen mit kutaner Manifestation.
- Author
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Poblete-Gutiérrez, P., Wiederholt, T., and Frank, J.
- Abstract
Copyright of Der Hautarzt is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Published
- 2004
- Full Text
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16. [Cardiac involvement in storage diseases : Role of genetic diagnostics]
- Author
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T, Trenkwalder, H, Schunkert, and W, Reinhard
- Subjects
Heart Diseases ,alpha-Galactosidase ,Fabry Disease ,Humans ,Heart ,Genetic Testing ,Metabolism, Inborn Errors - Abstract
In clinical practice cardiac involvement in patients with storage disorders is often diagnosed at a late and advanced stage of the disease with pronounced organ damage. As the currently available targeted therapies can only stop the progress of the disease, a timely diagnosis is of particular relevance. Genetic testing has become increasingly more important in cases of suspected cardiac manifestation in storage disorders. Thereby, diagnostic genetic testing can help to confirm the diagnosis and may also be relevant for therapeutic decision making. In relatives of affected patients predictive genetic testing provides the opportunity for an early therapeutic intervention.
- Published
- 2019
17. [Fabry disease - the profile of an orphan disease]
- Author
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Raphaël, Tamò, Sandrine A, Zweifel, Felix, Beuschlein, and Albina, Nowak
- Subjects
Rare Diseases ,alpha-Galactosidase ,Fabry Disease ,Humans ,Enzyme Replacement Therapy ,Female - Abstract
Fabry disease - the profile of an orphan disease Abstract. Fabry disease is a lysosomal storage disease, characterized by a deficient lysosomal function. The main pathophysiological mechanism is the deficiency of the enzyme α-galactosidase A. As a result, an accumulation of the substrate globotriaosylceramide occurs in tissues of affected patients. Fabry disease is a X chromosome-linked disease, hence women with one allele often show only mild symptoms. Frequent and unspecific initial symptoms in childhood include acroparesthesias, hypo- and anhidrosis, and angiokeratoma. Life-threatening complications such as progressive kidney insufficiency, cardiomyopathy, and cerebrovascular insult manifest only in later adulthood. The diagnosis requires the measurement of the α-galactosidase A activity in blood plasma or white blood cells. Approved therapeutic methods are the enzyme-replacement therapy and pharmacologic chaperone.Zusammenfassung. Morbus Fabry ist eine lysosomale Speicherkrankheit (LSK), welche durch eine gestörte lysosomale Funktion charakterisiert ist. Pathophysiologisch steht der Ausfall des Enzyms α-Galaktosidase A als Folge von Mutationen im GLA-Gen im Vordergrund. Konsekutiv kommt es hauptsächlich zur Überladung der des Organismus mit dem Enzymsubstrat Globotriaosylzeramid (Gb3). Der Morbus Fabry ist eine X-chromosomal vererbte Krankheit. Frauen mit einem Krankheitsallel zeigen deshalb zumeist eine mildere Symptomatik. Regelmässige, unspezifische Erstsymptome im Kindesalter sind Akroparästhesien, Hypo- oder Anhidrose und Angiokeratome. Im späteren Erwachsenenalter treten die lebenslimitierenden Komplikationen wie progressive Niereninsuffizienz, Kardiomyopathie und zerebrale Insulte auf. Zur Diagnose ist die Messung der α-Galaktosidase A – Aktivität im Plasma oder in peripheren Leukozyten erforderlich. Zur spezifischen Therapie ist beim Morbus Fabry die rekombinante Enzymersatztherapie zugelassen, pharmakologische Chaperone können, je nach Genotyp, ebenfalls zum Einsatz kommen.
- Published
- 2018
18. [Inherited heart diseases and storage diseases with cardiac involvement]
- Author
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Frauke S, Czepluch and Gerd, Hasenfuß
- Subjects
Rare Diseases ,Heart Diseases ,Cardiology ,Fabry Disease ,Humans ,Arrhythmias, Cardiac ,Amyloidosis ,Cardiomyopathies ,Amyloidosis, Familial - Abstract
Rare diseases mostly have a genetic cause. Many rare cardiovascular diseases also have a genetic cause. For target-oriented cardiogenetic diagnostics, expert knowledge in human genetics as well as in clinical cardiology is needed. In recent years, the genetic cause of a number of heart diseases have been, at least in part, elucidated. Especially, certain arrhythmias and cardiomyopathy forms have a monogenetic cause. An early genetic diagnosis means that patients can be treated more effectively. Rare storage diseases also usually have a genetic cause and can manifest themselves in the heart; prominent examples are Fabry disease and amyloidosis. As patients with Fabry disease or amyloidosis suffer from a diverse and variable symptomatology, the correct diagnosis is often difficult.
- Published
- 2018
19. Angiokeratoma corporis diffusum
- Author
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Köhn, Frank-Michael
- Published
- 2016
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20. [The Fabry's Disease Cardiomyopathy as Differential Diagnosis of Acute Coronary Syndrome]
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Daniel, Oder, Stefan, Störk, Christoph, Wanner, Georg, Ertl, Frank, Weidemann, and Peter, Nordbeck
- Subjects
Diagnosis, Differential ,Male ,Fabry Disease ,Humans ,Female ,Acute Coronary Syndrome ,Diagnostic Errors ,Aged - Abstract
The progressive cardiomyopathy in patients with Fabry disease is often accompanied by angina pectoris and elevated levels of high-sensitive troponin T (hs-TnT), potentially mimicking acute coronary syndrome. Here, we present to representative cases with focus on clinical, diagnostic and therapeutic settings. An overview on the cardiomyopathy associated with Fabry disease and its role as differential diagnosis of acute coronary syndrome is provided. Fabry cardiomyopathy might exhibit similar clinical and biochemical constellations as seen in acute coronary syndrome. Thus, Fabry cardiomyopathy should be considered a differential diagnosis in acute coronary syndrome, particularly in patients demonstrating left ventricular hypertrophy of unknown origin.
- Published
- 2017
21. Enzymersatztherapie bei Morbus Fabry.
- Author
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Hahn, A., Mengel, E., Reinke, J., Landenberg, P., Tanislav, C., Merz, C., and Neubauer, B.A.
- Abstract
Copyright of Monatsschrift Kinderheilkunde is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Published
- 2010
- Full Text
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22. [Angiokeratoma corporis diffusum (Fabry)]
- Author
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Frank-Michael, Köhn
- Subjects
Diagnosis, Differential ,Male ,Fabry Disease ,Humans ,Genital Diseases, Male - Published
- 2016
23. [Anterior segment findings with far-reaching consequences]
- Author
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V, Besgen, P, Seipelt, and Y, Wenner
- Subjects
Diagnosis, Differential ,Anterior Eye Segment ,Fabry Disease ,Humans ,Female ,Child ,Corneal Diseases - Published
- 2016
24. [Diffuse hyperkeratotic papules of the lower abdomen and genital region in a 38-year old male patient].
- Author
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Kuntz T, Mitrakos G, Koushk-Jalali B, Oellig F, Eismann L, Tigges C, and Kreuter A
- Subjects
- Abdomen, Adult, Angiokeratoma pathology, Fabry Disease genetics, Genitalia, Glycosphingolipids blood, Humans, Male, Skin Neoplasms pathology, alpha-Galactosidase blood, Enzyme Replacement Therapy, Fabry Disease diagnosis, Fabry Disease therapy
- Abstract
A patient with diffuse angiokeratomas of the lower abdomen and genital region was diagnosed with Fabry disease on the basis of genetic testing. Fabry disease is an X-linked lysosomal storage disease that can affect several organ systems including the heart or kidneys, resulting in reduced median survival. Pathogenetically, Fabry disease leads to a deficiency of the lysosomal enzyme α‑galactosidase A (α-GAL A). Treatment options include lifelong enzyme replacement therapy or chaperone therapy.
- Published
- 2020
- Full Text
- View/download PDF
25. Morbus Fabry: Diagnostik und Therapie
- Author
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Üçeyler, N. and Sommer, C.
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- 2012
- Full Text
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26. [Erythematous papules in a 26-year-old man]
- Author
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N, Koch and F, Butsch
- Subjects
Adult ,Diagnosis, Differential ,Male ,Erythema ,Fabry Disease ,Humans - Published
- 2015
27. [CME. Fabry disease: rare but not to be missed]
- Author
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Carolin, Steinack, Ariana, Gaspert, Ronald, Kovacs, and Albina, Nowak
- Subjects
Adult ,Inclusion Bodies ,Chromosomes, Human, X ,Delayed Diagnosis ,Myocardium ,Brain ,Cerebral Infarction ,Kidney ,Magnetic Resonance Imaging ,Isoenzymes ,Microscopy, Electron ,Rare Diseases ,Cerebellum ,alpha-Galactosidase ,Fabry Disease ,Humans ,Female ,Tomography, X-Ray Computed - Published
- 2015
28. [Globosides as key players in the pathophysiology of Shiga toxin-associated acute kidney failure and Fabry disease]
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S, Porubsky
- Subjects
Globosides ,Shiga-Toxigenic Escherichia coli ,Thrombotic Microangiopathies ,Biopsy ,Mice, Transgenic ,Acute Kidney Injury ,Kidney ,Shiga Toxin ,Disease Models, Animal ,Mice ,Kidney Tubules ,alpha-Galactosidase ,Animals ,Fabry Disease ,Humans ,Complement Activation - Abstract
Globosides and their isomeric counterparts isoglobosides belong to the class of neutral glycosphingolipids with an as yet undefined physiological function. In the pathogenesis of human diseases, globosides play an important role as cellular receptors for Shiga toxins which are produced by certain strains of S. dysenteriae and E. coli. In order to elucidate the pathogenesis of Shiga toxin-associated kidney failure, we studied human kidney biopsies and animal models. Our work showed that in patients suffering from Shiga toxin-elicited kidney failure, no complement activation could be demonstrated by immunohistochemical analysis of kidney biopsies. Therefore, complement activation is unlikely to play a major role in mediating thrombotic microangiopathy on exposure to Shiga toxin. Moreover, analysis of the human biopsies and of a murine model of Shiga toxin-associated disease pinpointed acute tubular damage as an important and previously neglected contributor to acute kidney failure in patients infected with Shiga toxin-producing E. coli. Furthermore, globosides play a decisive role in the pathogenesis of Fabry disease which results from a decreased or absent activity of the lysosomal enzyme α-galactosidase A. The results on transgenic mice showed that in vital organs, such as the heart, kidneys and liver, it was possible to revert the phenotype of Fabry disease by eliminating the synthesis of globosides. This implicates that substrate reduction therapy through inhibition of globosides might represent a new therapeutic option for Fabry disease, all the more so as globosides seem to be dispensable.
- Published
- 2014
29. M. Gaucher, M. Fabry und Mukopolysaccharidose Typ I: Wie kann der Rheumatologe diese Patienten erkennen?
- Author
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Manger, B., Mengel, E., Schaefer, R. M., Haase, C., Seidel, J., and Michels, H.
- Published
- 2006
- Full Text
- View/download PDF
30. Deformationsanalyse der Fabry-Kardiomyopathie durch 3D-Speckle-Tracking-Echokardiographie
- Author
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Landgraf, C. (Christian), Stypmann, J. (Jörg), and Universitäts- und Landesbibliothek Münster
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Fabry disease ,Three‐dimensional speckle tracking echocardiography ,Longitudinal function ,Strain ,Displacement ,Area tracking ,Morbus Fabry ,3D Speckle Tracking Echokardiographie ,Longitudinale Funktion ,Area Tracking ,Medicine and health ,ddc:610 - Abstract
Der Morbus Fabry ist eine angeborene Stoffwechselstörung, die u. a. zu einer progredienten Hypertrophie des Herzmuskels führt. Diese "Fabry-Kardiomyopathie" wurde mittels 2D und 3D Speckle Tracking Echokardiographie untersucht: Hierfür wurden 15 Patienten (40 ± 15 Jahre, 9 m., 6 w.) mit 15 in Alter und Geschlecht abgestimmten herzgesunden Kontrollen verglichen. Ausmaß (Peak) und Zeitpunkt (Time to Peak) des systolischen Kontraktionsmaximums wurden in Parametern der Bewegung und Verformung analysiert. Signifikante Unterschiede zeigten sich v. a. in Parametern der longitudinalen Funktion (L. Strain, L. Displacement, Area Tracking, 3D-Displacement) als verzögerte Time to Peak bei M. Fabry. Globale 3D Parameter erwiesen sich als besonders stabil. Hinsichtlich Peak konnten ebenso wenig aussagekräftige Unterschiede festgestellt werden wie in Parametern der radialen und zirkumferenziellen Funktion. Die Korrelation zwischen 2D und 3D Verfahren war in Longitudinal Strain und Displacement gut. The present study analyzes the suitability of two‐ and three‐dimensional (2D/3D) speckle tracking echocardiography (STE) for early detecting abnormalities of left ventricular (LV) deformation of Fabry disease (FD) patients.15 FD patients (9 males, 40 ± 15 years) and 15 age‐ and gender‐matched healthy controls underwent 2D and 3D STE.LV deformation was analyzed on global and segmental level. ANOVA was performed for systolic peak and time to peak values.Inter‐technique comparisons included correlation and Bland‐Altman analysis.The main finding was a prolonged time to peak in FD patients in parameters associated with longitudinal function, most significantly in global 3D longitudinal displacement, strain, 3D‐displacement and area tracking.There were no significant differences in corresponding peak values or regarding radial and circumferential function.Global 3D parameters emerged to be particularly stable. Inter‐technique agreement was best in longitudinal strain and displacement.
- Published
- 2014
31. [Home-based infusion therapy--a feasible approach for chronically ill patients? A new path to provide superior patient care exemplified for Fabry's disease]
- Author
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M, Beck, J, Gaedeke, P, Martus, N, Karabul, and A, Rolfs
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Adult ,Male ,Adolescent ,Middle Aged ,Home Care Services ,Recombinant Proteins ,Hospitalization ,Isoenzymes ,Young Adult ,Treatment Outcome ,Patient Satisfaction ,Risk Factors ,Germany ,alpha-Galactosidase ,Chronic Disease ,Critical Pathways ,Quality of Life ,Fabry Disease ,Feasibility Studies ,Humans ,Female ,Child ,Infusions, Intravenous ,Home Infusion Therapy ,Aged - Abstract
As there are scarce data from Germany addressing home-based infusion therapy in chronically ill patients, a study on transferring infusion therapy from in-patient-treatment to home care, exemplified for Fabry's disease, was conducted.A total of 69 patients on enzyme replacement infusion therapy (ERT with agalsidase alfa every two weeks) were enrolled in the open, non-controlled, multicentre, non-interventional observational study. After uneventful ERT in a hospital setting, intravenous treatment was administered at home by a specially-trained nurse. Primary outcome measure was change in patient satisfaction measured by an eleven-item Likert scale.The in-home observation period lasted between 96 und 401 days (median 180; IQR 166-184). Patient satisfaction increased significantly with home-based therapy (p = 0.001). A quality of life analysis (SF-36) demonstrated significant improvements in role-physical (p = 0.003), bodily pain (p = 0.032), vitality (p 0.001), social functioning (p = 0.020), role-emotional (p = 0.007), mental well-being (p = 0.007) and mental sum score (p = 0.002). Home infusions turned out to be safe and were well tolerated.Chronically ill patients with need for regular infusion therapy may benefit from a home care setting. Home-based infusion therapy as exemplified by agalsidase alfa ERT in Fabry's disease is a viable option for patients who received uneventful infusions within the hospital.
- Published
- 2013
32. [Cardiac involvement in storage diseases : Role of genetic diagnostics].
- Author
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Trenkwalder T, Schunkert H, and Reinhard W
- Subjects
- Fabry Disease, Genetic Testing, Heart, Humans, alpha-Galactosidase, Heart Diseases complications, Metabolism, Inborn Errors complications
- Abstract
In clinical practice cardiac involvement in patients with storage disorders is often diagnosed at a late and advanced stage of the disease with pronounced organ damage. As the currently available targeted therapies can only stop the progress of the disease, a timely diagnosis is of particular relevance. Genetic testing has become increasingly more important in cases of suspected cardiac manifestation in storage disorders. Thereby, diagnostic genetic testing can help to confirm the diagnosis and may also be relevant for therapeutic decision making. In relatives of affected patients predictive genetic testing provides the opportunity for an early therapeutic intervention.
- Published
- 2019
- Full Text
- View/download PDF
33. [Fabry disease - the profile of an orphan disease].
- Author
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Tamò R, Zweifel SA, Beuschlein F, and Nowak A
- Subjects
- Enzyme Replacement Therapy, Female, Humans, Rare Diseases, alpha-Galactosidase, Fabry Disease
- Abstract
Fabry disease - the profile of an orphan disease Abstract. Fabry disease is a lysosomal storage disease, characterized by a deficient lysosomal function. The main pathophysiological mechanism is the deficiency of the enzyme α-galactosidase A. As a result, an accumulation of the substrate globotriaosylceramide occurs in tissues of affected patients. Fabry disease is a X chromosome-linked disease, hence women with one allele often show only mild symptoms. Frequent and unspecific initial symptoms in childhood include acroparesthesias, hypo- and anhidrosis, and angiokeratoma. Life-threatening complications such as progressive kidney insufficiency, cardiomyopathy, and cerebrovascular insult manifest only in later adulthood. The diagnosis requires the measurement of the α-galactosidase A activity in blood plasma or white blood cells. Approved therapeutic methods are the enzyme-replacement therapy and pharmacologic chaperone.
- Published
- 2018
- Full Text
- View/download PDF
34. [Inherited heart diseases and storage diseases with cardiac involvement].
- Author
-
Czepluch FS and Hasenfuß G
- Subjects
- Amyloidosis, Familial, Arrhythmias, Cardiac genetics, Cardiology, Cardiomyopathies genetics, Humans, Rare Diseases, Amyloidosis genetics, Fabry Disease genetics, Heart Diseases genetics
- Abstract
Rare diseases mostly have a genetic cause. Many rare cardiovascular diseases also have a genetic cause. For target-oriented cardiogenetic diagnostics, expert knowledge in human genetics as well as in clinical cardiology is needed. In recent years, the genetic cause of a number of heart diseases have been, at least in part, elucidated. Especially, certain arrhythmias and cardiomyopathy forms have a monogenetic cause. An early genetic diagnosis means that patients can be treated more effectively. Rare storage diseases also usually have a genetic cause and can manifest themselves in the heart; prominent examples are Fabry disease and amyloidosis. As patients with Fabry disease or amyloidosis suffer from a diverse and variable symptomatology, the correct diagnosis is often difficult.
- Published
- 2018
- Full Text
- View/download PDF
35. [White matter lesions, young age, female--differential diagnosis of multiple sclerosis and juvenile stroke]
- Author
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P, Flossdorf, C, Kurschat, G R, Fink, and R, Sparing
- Subjects
Adult ,Neurologic Examination ,Multiple Sclerosis ,Age Factors ,Brain ,Cornea ,Diagnosis, Differential ,Stroke ,Sex Factors ,Image Processing, Computer-Assisted ,Fabry Disease ,Humans ,Female ,Diagnostic Errors ,Nervous System Diseases - Abstract
Fabry's disease is an X-chromosomal linked recessive lysosomal storage disease caused by a deficiency of α-galactosidase A. Accumulation of toxic levels of sphingolipids leads to metabolic dysfunction in various cell types (endothelial cells, myocytes, fibroblasts) and organs thus causing a variety of symptoms. Neurological manifestations include recurrent strokes and polyneuropathy, many patients complain of pain or vertigo. The presentation of these polymorphic symptoms mostly at young age often leads to incorrect diagnosis and mistreatment. Here we report two cases of female patients who both were misdiagnosed and thus mistreated for many years. These case-reports aim in increasing the awareness for Fabry's disease as a differential diagnosis, especially in young women presenting with white matter lesions.
- Published
- 2013
36. [Genetics of ischemic stroke]
- Author
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A, Gschwendtner and M, Dichgans
- Subjects
Adult ,Genotype ,DNA Mutational Analysis ,Brain ,CADASIL ,Cerebral Infarction ,Middle Aged ,Magnetic Resonance Imaging ,Survival Analysis ,Stroke ,Disability Evaluation ,Cross-Sectional Studies ,Cause of Death ,Fabry Disease ,Humans ,Genetic Predisposition to Disease ,Genetic Testing ,Child ,Genome-Wide Association Study - Abstract
Stroke is one of the most widespread causes of mortality und disability worldwide. Around 80 % of strokes are ischemic and different forms of intracranial bleeding account for the remaining cases. Monogenic stroke disorders are rare but the diagnosis may lead to specific therapeutic consequences for the affected patients who are predominantly young. In common sporadic stroke, genetic factors play a role in the form of susceptibility genes. Their discovery may give rise to new therapeutic options in the future.
- Published
- 2013
37. [Pain therapy for Fabry's disease]
- Author
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C, Sommer, N, Uçeyler, T, Duning, K, Arning, R, Baron, E, Brand, S, Canaan-Kühl, M, Hilz, D, Naleschinski, C, Wanner, and F, Weidemann
- Subjects
Analgesics ,Fabry Disease ,Humans ,Neuralgia - Abstract
Fabry's disease is an X-chromosome linked lysosomal storage disorder with α-galactosidase A deficiency and subsequent multiple organ involvement. An early and common symptom also in later stages of the disease is pain. This pain depends on various precipitating factors and can severely compromise the quality of life. So-called Fabry crises can lead to the necessity for intensive care treatment. The pain can be classified as predominantly neuropathic and is difficult to treat. In addition, medication has to be adjusted to concomitant cardiac and renal involvement in Fabry's disease. This review gives guidance for pain therapy in Fabry's disease based on the available evidence and on experience.
- Published
- 2012
38. [Fabry disease : diagnosis and treatment]
- Author
-
N, Üçeyler and C, Sommer
- Subjects
Adult ,Male ,Analgesics ,Infant ,Peripheral Nervous System Diseases ,Genetic Counseling ,Isoenzymes ,Child, Preschool ,alpha-Galactosidase ,Fabry Disease ,Humans ,Neuralgia ,Enzyme Replacement Therapy ,Female ,Child ,Pain Measurement - Abstract
Fabry disease is an X-linked hereditary lysosomal storage disorder with deficiency of the enzyme α-galactosidase A and lysosomal deposits of the glycosphingolipid globotriaosylceramid-3 (Gb-3). Males are predominantly affected by this multisystem disorder; however, females may develop any grade of disease severity. Cardiac, renal, and cerebral involvement may be life limiting-the latter due to stroke in young age. The peripheral nervous system is affected in terms of small fiber neuropathy with characteristic heat-induced acral pain. Pain is the most frequent first symptom of Fabry disease, but is often misjudged and undertreated. Enzyme replacement therapy is available as a treatment option. Fabry-associated pain is treated following the principles of analgesic treatment in neuropathic pain conditions, but some special features need to be considered and will be discussed.
- Published
- 2012
39. [Recent developments in genetic kidney diseases]
- Author
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M C, Liebau and T, Benzing
- Subjects
Adult ,Nephrotic Syndrome ,Polymorphism, Genetic ,Glomerulosclerosis, Focal Segmental ,Podocytes ,DNA Mutational Analysis ,Infant, Newborn ,Nephritis, Hereditary ,Sequence Analysis, DNA ,Polycystic Kidney, Autosomal Dominant ,Proteinuria ,Phenotype ,Rare Diseases ,Fabry Disease ,Humans ,Kidney Diseases ,Genetic Testing ,Child ,Alleles ,Aged ,Glomerular Filtration Rate - Abstract
The improved understanding of genetic kidney diseases has given rise to a more detailed understanding of kidney function within the last decade. Insights into the pathophysiological principles of frequent kidney diseases - partly inherited, partly acquired - have been obtained by the investigation of rare genetic disorders and can now serve as a starting point for the development of novel therapeutic strategies. In this way various clinical multicenter trials, which are based on the observations made in basic science have been established for the very common autosomal dominant polycystic kidney disease. Furthermore, the influence of genetic aspects on frequent kidney diseases, e. g. diabetic nephropathy, is becoming more obvious. This article aims to give an overview over essential recent development in the field of genetic kidney diseases.
- Published
- 2011
40. [Lysosomal storage diseases]
- Author
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B, Manger
- Subjects
Adult ,Gaucher Disease ,Adolescent ,Mucopolysaccharidoses ,Glycogen Storage Disease ,Sphingolipidoses ,Diagnosis, Differential ,Lysosomal Storage Diseases ,Young Adult ,Phenotype ,Rare Diseases ,Mucolipidoses ,Fabry Disease ,Humans ,Enzyme Replacement Therapy ,Interdisciplinary Communication ,Cooperative Behavior ,Child - Abstract
Lysosomal storage diseases are a heterogeneous group of disorders caused by lysosomal enzyme dysfunction. Individually they are very rare, but this group as a whole has a prevalence of more than 1:8,000 live births. While severe phenotypes are easily diagnosed this can be a real challenge with attenuated forms. Because musculoskeletal complaints are frequently the first reason for the patient to seek medical advice, the rheumatologist plays a key role for the early recognition of these diseases. Since several of these can be treated very effectively by enzyme replacement, a timely diagnosis and start of therapy are essential to avoid irreversible organ damage and poor quality of life. Therefore, each clinical rheumatologist should be aware of the cardinal symptoms of lysosomal storage diseases.
- Published
- 2010
41. [Females with Fabry's disease - an interdisciplinary diagnostic and therapeutic challenge]
- Author
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Frank, Weidemann, Markus, Niemann, Claudia, Sommer, Meinrad, Beer, Frank, Breunig, and Christoph, Wanner
- Subjects
Adult ,DNA Mutational Analysis ,Kidney Glomerulus ,Genetic Diseases, X-Linked ,Cardiomyopathy, Hypertrophic ,Middle Aged ,Combined Modality Therapy ,Magnetic Resonance Imaging ,Diagnosis, Differential ,Stroke ,Proteinuria ,Young Adult ,alpha-Galactosidase ,Fabry Disease ,Humans ,Female ,Interdisciplinary Communication ,Genetic Testing ,Cooperative Behavior ,Alleles ,Glomerular Filtration Rate - Abstract
Fabry's disease is a rare genetic storage disorder leading to an accumulation of globotriaosylceramides in the lysosomes of various organs. Being X-chromosomal-linked, most studies in the past focused on involvement in male patients. However, it has been elucidated recently that female patients can present typical organ involvement and, thus, have to be treated respectively. This synopsis wants to systematically review the typical organ involvement in female Fabry patients. Moreover, therapy recommendations especially for female patients are discussed.
- Published
- 2010
42. M. Fabry: Neue klinische Erkenntnisse — Aktuelle therapeutische Perspektiven
- Author
-
Beck, Michael
- Published
- 2003
- Full Text
- View/download PDF
43. [Effect of enzyme replacement therapy (ERT) on renal function of patients with Fabry's disease]
- Author
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Thomas, Thomaidis, Manfred, Relle, Joerg, Reinke, Michael, Beck, and Andreas, Schwarting
- Subjects
Isoenzymes ,Treatment Outcome ,Creatinine ,Trihexosylceramides ,alpha-Galactosidase ,Fabry Disease ,Humans ,Kidney Failure, Chronic ,Enzyme Replacement Therapy ,Recombinant Proteins ,Follow-Up Studies ,Glomerular Filtration Rate - Abstract
Fabry's disease is an inherited lysosomal storage disorder characterized by the lack of enzyme alpha-galactosidase A (alpha-Gal A) which degrades globotriaosylceramides (Gb3) into products with lower molecular weight. The accumulation of Gb3 in different cell types is responsible for the variety of clinical manifestations. The renal function, estimated via proteinuria, hematuria and reduction of glomerular filtration rate (GRF), is heavily affected. Currently, substitution of alpha-Gal A remains the only therapeutic option for patients with Fabry's disease. Two products are approved for the treatment of Fabry's disease: agalsidase alfa and agalsidase beta. Both of these enzymes have shown a stabilization of renal function in various studies when evaluated by the creatinine clearance, estimated GFR, and serum creatinine. The pro gnosis has proven to be significantly better in cases of mild or moderate renal insufficiency from the baseline. For this reason, an early substitution of the lacking enzyme is necessary. Furthermore, enzyme replacement therapy (ERT) has proven efficient in reducing the amount of intracellular Gb3 and Gb3 in urine. Without treatment, an eGFR reduction of approximately 12 ml/min/year has been reported. After diverse studies of ERT, no significant correlation between enzyme substitution and improvement of patients' proteinuria could be shown. Furthermore, renoprotective drugs have not been consistently applied so far in the ERT trials. In any case, further studies to evaluate the long-term effect of ERT on the morbidity and mortality of patients with Fabry's disease are necessary.
- Published
- 2009
44. [Ocular motility disorders in a patient with Fabry's disease]
- Author
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B, Fiore, M, Klopfer, C, Schwebig, A, Wiescher, and I, Lanzl
- Subjects
Adult ,Male ,Ocular Motility Disorders ,Fabry Disease ,Humans - Abstract
Fabry's disease (FD) is a rare lysosomal storage disorder. Early cerebral manifestations are a major and often life-threatening burden of the disease. We present a 38-year-old male FD patient with a prior history of six different episodes of stroke and newly developing ocular disorders. He presented with nystagmus with different wave forms and directions and blepharospasm as well as cornea verticillata.
- Published
- 2009
45. [Division-related function and organ-related therapy in Fabry's disease. An interdisciplinary challenge]
- Author
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Frank, Weidemann, Claudia, Sommer, Thomas, Duning, Ines, Lanzl, Matthias, Möhrenschlager, Dennis, Naleschinski, Ralf, Baron, Frank, Breunig, Roland, Schaefer, Jörg, Strotmann, and Christoph, Wanner
- Subjects
Patient Care Team ,alpha-Galactosidase ,Fabry Disease ,Humans ,Medicine ,Cooperative Behavior ,Combined Modality Therapy ,Specialization - Abstract
Fabry's disease is a rare X-linked lysosomal storage disorder leading to an accumulation of globotriaosylceramides in the lysosomes of all tissues. As the accumulation occurs in all organs, different medical faculties are involved in the diagnostics and therapy of Fabry's disease. With this review the three main faculties (cardiology, nephrology and neurology) as well as the adjacent faculties (ophthalmology and dermatology) want to discuss the division-related function and also to suggest an organ-related additional therapy besides enzyme replacement therapy.
- Published
- 2008
46. [Fabry disease - complex clinical picture, simple diagnosis procedure, causal treatment]
- Author
-
B, Hoffmann, M, Beck, A, Rolfs, and H P H, Neumann
- Subjects
Male ,Trihexosylceramides ,alpha-Galactosidase ,Fabry Disease ,Humans ,Registries ,Prognosis ,Aged - Published
- 2008
47. [Cardiac involvement in Fabry's disease]
- Author
-
Frank, Weidemann and Frank, Breunig
- Subjects
Adult ,Male ,Time Factors ,alpha-Galactosidase ,Fabry Disease ,Humans ,Angiotensin-Converting Enzyme Inhibitors ,Drug Therapy, Combination ,Female ,Cardiomyopathies ,Magnetic Resonance Imaging ,Echocardiography, Doppler ,Hypolipidemic Agents - Abstract
Fabry's disease is a rare X-linked lysosomal storage disorder leading to an accumulation of globotriaosylceramides in the lysosomes of all tissues. The disease is characterized by a progressive involvement of important vital organs like the kidneys, the cerebrovascular system and the heart. Within the scope of this article an overview of Fabry's cardiomyopathy, the necessary cardiac diagnostic tests and, in addition, the new concept of enzyme replacement therapy is given.
- Published
- 2008
48. [Fabry disease. An interdisciplinary challenge]
- Author
-
M, Cybulla and H P H, Neumann
- Subjects
Male ,Heart Diseases ,Gastrointestinal Diseases ,Mental Disorders ,Trihexosylceramides ,Kidney ,Diagnosis, Differential ,alpha-Galactosidase ,Quality of Life ,Fabry Disease ,Humans ,Female ,Interdisciplinary Communication ,Eye Abnormalities ,Paresthesia ,Nervous System Diseases ,Sweat ,Skin - Abstract
Fabry disease is an inherited X-linked lysosomal storage disease due to a genetic defect of the GLA gene which encodes the protein of the enzyme alpha-galaktosidase A. Under normal concentrations this lysosomal enzyme is involved in degradation and catabolism processes of membrane glycosphingolipids in almost all cells of the human organism. The enzyme deficiency leads to a progressive accumulation of globotriaosylceramide (Gb3) in various tissues and organ systems and is responsible for the large variability of the clinical signs and symptoms of the disease. First signs and symptoms such as painful neuropathy (acroparethesia), hypo- or unhidrosis and gastrointestinal disturbances can be found already in childhood and mainly affect quality of life. In the following decades of life, renal cardiac, and cerebrovascular complications occur in hemizygous males and with some delay in a part of heterozygous females as well. If not treated, these complications result in increased morbidity and premature mortality. With the introduction of the enzyme replacement therapy (ERT) in 2001 a causal treatment is available. Published data from clinical trials and observational studies demonstrated that ERT mitigates signs and symptoms of the disease as well as quality of life, and has the potential to reduce mortality. The efficacy of ERT seems to be less pronounced in severe cases of the disease, which makes an early diagnosis and treatment more important in order to prevent or improve the progression of the disease.
- Published
- 2007
49. [Fabry disease: a little-known metabolic disorder with severe consequences]
- Author
-
Thomas, Jansen and Stephan, Grabbe
- Subjects
Adult ,Male ,Adolescent ,Infant, Newborn ,Infant ,Diagnosis, Differential ,Isoenzymes ,Child, Preschool ,alpha-Galactosidase ,Fabry Disease ,Humans ,Child ,Family Practice ,Angiokeratoma - Published
- 2007
50. [Fabry disease: demographic data since introduction of enzyme replacement therapy]
- Author
-
M, Cybulla, K, Walter, H P, Neumann, U, Widmer, M, Schärer, G, Sunder-Plassmann, T, Jansen, A, Rolfs, and M, Beck
- Subjects
Adult ,Male ,Adolescent ,Incidence ,Middle Aged ,Survival Analysis ,Austria ,Germany ,Fabry Disease ,Humans ,Regression Analysis ,Female ,Child ,Aged - Abstract
Fabry's disease is a rare, X-chromosome linked recessive lysosomal storage disorder. In its course multiple organ damage occurs, e.g. in skin, nerves, kidneys and heart. The disease not only markedly impairs the quality of life but also shortens life expectancy if untreated. As it is a rare and not widely known disease with considerable variability of its symptoms it is often not or only belatedly diagnosed. Since 2001, enzyme replacement has become available as an option in the causal treatment. It was the aim of this study to analyse the demography and clinical expression of the disease.Data were obtained from the Fabry Outcome Survey (FOS), a Europe-wide data bank for the documentation of the disease's clinical course, on 262 patients (130 males, 132 females; mean age 37.5 and 34 years, respectively on entry in the FOS) in Germany, Switzerland and Austria.Typical symptoms - acroparesthesias, joint pain, hypohidrosis, fever and angiokeratoma - have their onset in childhood (mean age nine years). Symptoms start significantly earlier in males than females. The interval between onset of the first symptoms and establishment of the diagnosis is about 15 years. The severity of the clinical picture, as measured in the POS Mainz severity score index (MSSI), correlates significantly with the person's age (p = 0.0001). Main causes of morbidity and death in Fabry's disease are involvement of the kidneys or heart, the one or other occurring in 75% of patients. 171 patients (38 [65.3%]: 92 males, 79 females) are at present being continually treated with enzyme-replacement (ERT), agalsidase-a, i.e. 70.8% of all male and 59.8 of all female patients in the FOS.It is of great importance for the prognosis and quality that Fabry's disease is diagnosed as early as possible and treated adequately before the onset of organ damage. If the listed symptoms by themselves remain unexplained, Fabry's disease should be considered in the differential diagnosis. National and international observational studies, such as the FOS, significantly contribute to gaining important clinical data on this heterogeneous disease.
- Published
- 2007
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