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Although guidelines are available for hereditary hemochromatosis, a high percentage of the recommendations within them are not shared between the different guidelines. Our main aim is to provide an objective, simple, brief, and practical set of recommendations about therapeutic aspects of HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype, based on the published scientific studies and guidelines, in a form that is reasonably comprehensible to patients and people without medical training. This final version was approved at the Hemochromatosis International meeting on 12th May 2017 in Los Angeles

Item does not contain fulltext

Item does not contain fulltext

Although guidelines are available for hereditary hemochromatosis, a high percentage of the recommendations within them are not shared between the different guidelines. Our main aim is to provide an objective, simple, brief, and practical set of recommendations about therapeutic aspects of HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype, based on the published scientific studies and guidelines, in a form that is reasonably comprehensible to patients and people without medical training. This final version was approved at the Hemochromatosis International meeting on 12th May 2017 in Los Angeles

Udgivelsesdato: null-null, BACKGROUND: Blau syndrome is a chronic granulomatous disease with an autosomal dominant trait characterized by the triad granulomatous dermatitis, arthritis, and uveitis. It is caused by mutations in the NOD2 gene, also termed the CARD15 gene. OBJECTIVE: To report a novel mutation in the NOD2 gene associated with Blau syndrome. METHODS AND RESULTS: The proband was a 68-year-old ethnic Norwegian male who had uveitis and arthritis since 10 years of age followed by lifelong recurrent arthritis and chronic eye involvement. Genetic analysis showed a heterozygous c.1814 C>A, T605N mutation in NOD2 that has not previously been described. All of his three children had Blau syndrome and had inherited the NOD2 mutation. The proband's first son had exanthema, arthritis, and uveitis from 10 years of age and later presented with granulomatous lymphadenopathy, granulomatous parotitis, and granulomatous intestinal inflammation. The proband's daughter had arthritis, uveitis, and exanthema from 3 years of age. The proband's second son had uveitis, exanthema, and arthritis from 1.5 years of age. None of the cases had any involvement of the heart or lungs. CONCLUSION: We report a novel Blau syndrome-associated mutation with an autosomal dominant heritage. Most likely the mutation has arisen de novo in the proband. Genetic counselling and antenatal diagnostics should be available to the involved families.

Udgivelsesdato: null-null, BACKGROUND: Blau syndrome is a chronic granulomatous disease with an autosomal dominant trait characterized by the triad granulomatous dermatitis, arthritis, and uveitis. It is caused by mutations in the NOD2 gene, also termed the CARD15 gene. OBJECTIVE: To report a novel mutation in the NOD2 gene associated with Blau syndrome. METHODS AND RESULTS: The proband was a 68-year-old ethnic Norwegian male who had uveitis and arthritis since 10 years of age followed by lifelong recurrent arthritis and chronic eye involvement. Genetic analysis showed a heterozygous c.1814 C>A, T605N mutation in NOD2 that has not previously been described. All of his three children had Blau syndrome and had inherited the NOD2 mutation. The proband's first son had exanthema, arthritis, and uveitis from 10 years of age and later presented with granulomatous lymphadenopathy, granulomatous parotitis, and granulomatous intestinal inflammation. The proband's daughter had arthritis, uveitis, and exanthema from 3 years of age. The proband's second son had uveitis, exanthema, and arthritis from 1.5 years of age. None of the cases had any involvement of the heart or lungs. CONCLUSION: We report a novel Blau syndrome-associated mutation with an autosomal dominant heritage. Most likely the mutation has arisen de novo in the proband. Genetic counselling and antenatal diagnostics should be available to the involved families.

BACKGROUND: The objectives of this study were to assess the frequency and severity of pulmonary hypertension (PH) and the effect of sildenafil treatment in patients with recalcitrant pulmonary sarcoidosis. METHODS: This investigation was a single-center, retrospective study of all patients (n = 25) with end-stage pulmonary sarcoidosis referred for lung transplantation. Hemodynamic measurements were evaluated by right-side cardiac catheterization in 24 of 25 patients. Sildenafil treatment for patients with sarcoidosis-associated PH was introduced in April 2004. RESULTS: The study group of 24 patients (16 men, 8 women) had a median age of 45 (range 35 to 58) years, and duration of sarcoidosis of 11 (range 2 to 38) years. Mean pulmonary arterial pressure (MPAP) was median 36 (range 18 to 73) mm Hg. PH (MPAP >25 mm Hg) was present in 19 of 24 patients (79%). Sildenafil was administered to 12 of 13 patients at a dose of 150 (range 75 to 225) mg/day for 4 (range 1 to 12) months. Sildenafil treatment was associated with reductions in MPAP of -8 mm Hg (CI -1 to -15 mm Hg), and PVR -4.9 Wood units (CI -7.2 to -2.6 Wood units). Cardiac output and cardiac index also increased during treatment (p = 0.01, respectively). There were no consistent changes in 6-minute walk distance. CONCLUSIONS: Patients with severe pulmonary sarcoidosis have a high prevalence of PH. Sildenafil treatment was associated with significant improvements in hemodynamic parameters Udgivelsesdato: 2008/3

Heart transplantation (HTx) is a well-established treatment for severe cardiac failure. However, HTx for cardiac sarcoidosis is rare; less than 80 patients have been reported worldwide. In many patients, the diagnosis was not made prior to HTx. The aim of this study was to describe the use of HTx in the treatment of severe cardiac sarcoidosis. The series was comprised of four Caucasian patients (1 male, 3 females), aged 25-57 years. HTx were performed in the period 1990-2006. None of the patients had clinically overt extra-cardiac sarcoidosis. In one patient the diagnosis of sarcoidosis was proven prior to HTx. In three patients, all with dilated cardiomyopathy due to myocardial sarcoidosis, the final diagnosis was obtained by examination of the explanted heart. Arrythmias (supraventricular and ventricular), heart block, mitral valve insufficiency and dilated cardiomyopathy were prominent clinical features. None of the patients had recurrence of sarcoid disease in the allograft. Two patients are long-term survivors and two are deceased, one of primary graft failure, the other from Cytomegalovirus myocarditis. In conclusion, HTx is a viable treatment for cardiac sarcoidosis with end stage cardiac failure. Cardiac sarcoidosis is difficult to diagnose. Myocardial biopsy has a low diagnostic sensitivity. However, when the newest non-invasive diagnostic methods, including magnetic resonance imaging and positron emission tomography, are applied, an endomyocardial biopsy should not be mandatory to make a diagnosis of cardiac sarcoidosis Udgivelsesdato: 2008/9

Background and aims: In elderly Danes, reference intervals for hemoglobin (Hb) concentrations are derived from younger population groups. The aim was to examine reference intervals for Hb and cut-off limits for anemia by application of criteria for normality to a representative population of 80-year-olds. Methods: Participants in this epidemiological health survey cohort were 358 subjects (171 men) 80 years of age. A dietary survey was performed in 232 subjects. Blood samples included Hb, red cell indices, serum ferritin, serum C-reactive protein, renal and hepatic function tests. Normality criteria for Hb were: 1) values in all participants; 2) values in apparently healthy subjects; 3) values in 10-year survivors. Hb was compared with muscle strength, physical performance and diet. Results: In the entire series, median Hb was 140 g/L, 5-95 percentile 116-160 g/L in men, and 131 g/L, 5-95 percentile 114-147 g/L in women (p<0.001). The prevalence of anemia, as defined by World Health Organization (WHO) criteria, was 18% in men and 17% in women. Apparently healthy iron-replete men (n=129) and women (n=141) had median Hb of 141 g/L and 131 g/L. Median Hb levels were higher in 10-year surviving men (143 g/L) than in deceased men (139 g/L whereas surviving and deceased women had similar median Hb (131 g/L). Hb and muscle strength were significantly correlated. Subjects with physical performance score >= 20 had a lower frequency of anemia. There was no correlation between Hb and dietary or supplemental iron intake. In men, Hb was correlated to meat consumption. Conclusions: WHO decision limits for anemia should not be lowered in 80-year-old subjects. "Optimal" Hb concentrations with respect to survival appear to be at least 140 g/L in men and 131 g/L in women. Further research should evaluate whether not only treating anemia, but also increasing Hb by using erythropoietin and hematinics, may improve functional status and survival in the elderly Udgivelsesdato

Trefoil factors (TFF1-3) are 7-12 kDa peptides secreted by mucosal surfaces, with changing levels of expression reflected in serum concentrations. The genes for the peptides are located on chromosome 21, the chromosome duplicated in trisomy 21. We studied the levels of circulating TFFs in pregnant women carrying trisomy 21 foetuses and in women with normal pregnancies, throughout pregnancy and postpartum.

BACKGROUND: The objectives of this study were to assess the frequency and severity of pulmonary hypertension (PH) and the effect of sildenafil treatment in patients with recalcitrant pulmonary sarcoidosis. METHODS: This investigation was a single-center, retrospective study of all patients (n = 25) with end-stage pulmonary sarcoidosis referred for lung transplantation. Hemodynamic measurements were evaluated by right-side cardiac catheterization in 24 of 25 patients. Sildenafil treatment for patients with sarcoidosis-associated PH was introduced in April 2004. RESULTS: The study group of 24 patients (16 men, 8 women) had a median age of 45 (range 35 to 58) years, and duration of sarcoidosis of 11 (range 2 to 38) years. Mean pulmonary arterial pressure (MPAP) was median 36 (range 18 to 73) mm Hg. PH (MPAP >25 mm Hg) was present in 19 of 24 patients (79%). Sildenafil was administered to 12 of 13 patients at a dose of 150 (range 75 to 225) mg/day for 4 (range 1 to 12) months. Sildenafil treatment was associated with reductions in MPAP of -8 mm Hg (CI -1 to -15 mm Hg), and PVR -4.9 Wood units (CI -7.2 to -2.6 Wood units). Cardiac output and cardiac index also increased during treatment (p = 0.01, respectively). There were no consistent changes in 6-minute walk distance. CONCLUSIONS: Patients with severe pulmonary sarcoidosis have a high prevalence of PH. Sildenafil treatment was associated with significant improvements in hemodynamic parameters Udgivelsesdato: 2008/3

Heart transplantation (HTx) is a well-established treatment for severe cardiac failure. However, HTx for cardiac sarcoidosis is rare; less than 80 patients have been reported worldwide. In many patients, the diagnosis was not made prior to HTx. The aim of this study was to describe the use of HTx in the treatment of severe cardiac sarcoidosis. The series was comprised of four Caucasian patients (1 male, 3 females), aged 25-57 years. HTx were performed in the period 1990-2006. None of the patients had clinically overt extra-cardiac sarcoidosis. In one patient the diagnosis of sarcoidosis was proven prior to HTx. In three patients, all with dilated cardiomyopathy due to myocardial sarcoidosis, the final diagnosis was obtained by examination of the explanted heart. Arrythmias (supraventricular and ventricular), heart block, mitral valve insufficiency and dilated cardiomyopathy were prominent clinical features. None of the patients had recurrence of sarcoid disease in the allograft. Two patients are long-term survivors and two are deceased, one of primary graft failure, the other from Cytomegalovirus myocarditis. In conclusion, HTx is a viable treatment for cardiac sarcoidosis with end stage cardiac failure. Cardiac sarcoidosis is difficult to diagnose. Myocardial biopsy has a low diagnostic sensitivity. However, when the newest non-invasive diagnostic methods, including magnetic resonance imaging and positron emission tomography, are applied, an endomyocardial biopsy should not be mandatory to make a diagnosis of cardiac sarcoidosis Udgivelsesdato: 2008/9

Background and aims: In elderly Danes, reference intervals for hemoglobin (Hb) concentrations are derived from younger population groups. The aim was to examine reference intervals for Hb and cut-off limits for anemia by application of criteria for normality to a representative population of 80-year-olds. Methods: Participants in this epidemiological health survey cohort were 358 subjects (171 men) 80 years of age. A dietary survey was performed in 232 subjects. Blood samples included Hb, red cell indices, serum ferritin, serum C-reactive protein, renal and hepatic function tests. Normality criteria for Hb were: 1) values in all participants; 2) values in apparently healthy subjects; 3) values in 10-year survivors. Hb was compared with muscle strength, physical performance and diet. Results: In the entire series, median Hb was 140 g/L, 5-95 percentile 116-160 g/L in men, and 131 g/L, 5-95 percentile 114-147 g/L in women (p<0.001). The prevalence of anemia, as defined by World Health Organization (WHO) criteria, was 18% in men and 17% in women. Apparently healthy iron-replete men (n=129) and women (n=141) had median Hb of 141 g/L and 131 g/L. Median Hb levels were higher in 10-year surviving men (143 g/L) than in deceased men (139 g/L whereas surviving and deceased women had similar median Hb (131 g/L). Hb and muscle strength were significantly correlated. Subjects with physical performance score >= 20 had a lower frequency of anemia. There was no correlation between Hb and dietary or supplemental iron intake. In men, Hb was correlated to meat consumption. Conclusions: WHO decision limits for anemia should not be lowered in 80-year-old subjects. "Optimal" Hb concentrations with respect to survival appear to be at least 140 g/L in men and 131 g/L in women. Further research should evaluate whether not only treating anemia, but also increasing Hb by using erythropoietin and hematinics, may improve functional status and survival in the elderly Udgivelsesdato

Trefoil factors (TFF1-3) are 7-12 kDa peptides secreted by mucosal surfaces, with changing levels of expression reflected in serum concentrations. The genes for the peptides are located on chromosome 21, the chromosome duplicated in trisomy 21. We studied the levels of circulating TFFs in pregnant women carrying trisomy 21 foetuses and in women with normal pregnancies, throughout pregnancy and postpartum.

Background: Single-meal and short-term studies have shown an enhancing effect of meat on iron absorption, but there are few interventions of longer duration comprising measurements of biomarkers of iron status. Aim of the study: To assess the impact of a meat-based and a vegetable-based diet on iron status of women of childbearing age. Methods: For 20 weeks, 57 women aged 19-39 years with low iron stores (serum ferritin = 120 g/l) consumed either a meat-based or a vegetable-based diet. Haemoglobin and serum ferritin concentrations were measured at baseline, after 10 and 20 weeks. Information about dietary intake before and during intervention, meat/fish intake, menstruation and contraceptive methods were recorded. Results: The women who consumed the meat-based diet had a significantly (P <0.001) higher intake of meat/fish, 152 (147-168) g/day (median (Q(1)-Q(3))) compared to the women consuming the vegetable-based diet 31 (24-36) g/day, while the total iron intake was similar in the two groups (mean +/- SE) 11.0 +/- 0.5 and 12.3 +/- 0.3/day mg/day, respectively. Serum ferritin remained unchanged in women on the meat-based diet (n = 29)(before intervention (median (Q(1)-Q(3))): 16.3 (12.7-25.3) mu g/l and after intervention: 16.5 (10.3-25.3) mu g/l, but declined from 17.3 (10.9-23.7) to 11.2 (8.8-14.6) mu g/l (P <0.001) in women on the vegetable-based diet (n = 28). Conclusiions: Our results emphasize the importance of the delicate balance between dietary iron content and iron bioavailability for the maintenance of blood indicators of iron stores in women with initially low iron status.

Background: Single-meal and short-term studies have shown an enhancing effect of meat on iron absorption, but there are few interventions of longer duration comprising measurements of biomarkers of iron status. Aim of the study: To assess the impact of a meat-based and a vegetable-based diet on iron status of women of childbearing age. Methods: For 20 weeks, 57 women aged 19-39 years with low iron stores (serum ferritin = 120 g/l) consumed either a meat-based or a vegetable-based diet. Haemoglobin and serum ferritin concentrations were measured at baseline, after 10 and 20 weeks. Information about dietary intake before and during intervention, meat/fish intake, menstruation and contraceptive methods were recorded. Results: The women who consumed the meat-based diet had a significantly (P <0.001) higher intake of meat/fish, 152 (147-168) g/day (median (Q(1)-Q(3))) compared to the women consuming the vegetable-based diet 31 (24-36) g/day, while the total iron intake was similar in the two groups (mean +/- SE) 11.0 +/- 0.5 and 12.3 +/- 0.3/day mg/day, respectively. Serum ferritin remained unchanged in women on the meat-based diet (n = 29)(before intervention (median (Q(1)-Q(3))): 16.3 (12.7-25.3) mu g/l and after intervention: 16.5 (10.3-25.3) mu g/l, but declined from 17.3 (10.9-23.7) to 11.2 (8.8-14.6) mu g/l (P <0.001) in women on the vegetable-based diet (n = 28). Conclusiions: Our results emphasize the importance of the delicate balance between dietary iron content and iron bioavailability for the maintenance of blood indicators of iron stores in women with initially low iron status.

Udgivelsesdato: 2007/11

Udgivelsesdato: 2007/11

The Danish Nutrition Council has examined the latest scientific literature on nutrition during pregnancy to evaluate the basis for the existing official recommendations. The recommendation to overweight women to gain only eight kilo should be accompanied with a recommendation to lose weight pre-conceptionally. Individualised recommendations should be provided in the prevention of iron deficiency, and the recommendation for calcium should include information on quantity. The recommendation of periconceptional folic acid supplementation does not benefit unplanned pregnancies. Arguments exist for adding a recommendation for vitamin D.

The Danish Nutrition Council has examined the latest scientific literature on nutrition during pregnancy to evaluate the basis for the existing official recommendations. The recommendation to overweight women to gain only eight kilo should be accompanied with a recommendation to lose weight pre-conceptionally. Individualised recommendations should be provided in the prevention of iron deficiency, and the recommendation for calcium should include information on quantity. The recommendation of periconceptional folic acid supplementation does not benefit unplanned pregnancies. Arguments exist for adding a recommendation for vitamin D.

Denmark, Gentotypes, Hemochromatosis, Mutations, Prevalence, Scandinavia

Denmark, Gentotypes, Hemochromatosis, Mutations, Prevalence, Scandinavia

Background and objectives: From 1954 to 1986, flour in Denmark was fortified with 30 mg carbonyl iron per kilogram. This mandatory enrichment of cereal products was abolished in 1987. The aim was to evaluate iron status in the Danish female population before and after abolishment of iron fortification. Methods: Iron status, serum ferritin and haemoglobin, was assessed in population surveys in 1983-1984 comprising 1221 Caucasian women (1089 non-blood-donors, 130 donors) and in 1993-1994 comprising 1261 women (1155 non-blood-donors, 104 donors) equally distributed in age cohorts of 40, 50, 60 and 70 yr. Results: In the 1984 survey, median ferritin values in the four age cohorts in non-blood-donors were 44, 57, 84 and 80 mug/L, and in the 1994 survey 40, 67, 97 and 95 mug/L, respectively. In 1984, premenopausal women had median ferritin of 43 mug/L and in 1994 of 39 mug/L (NS). In 1984, postmenopausal women had median ferritin of 75 mug/L and in 1994 of 93 mug/L (P <0.0001). The prevalence of depleted iron stores (ferritin <16 mug/L) was not significantly different in 1984 and 1994 either in premenopausal or in postmenopausal women. The prevalence of small + depleted iron stores (ferritin less than or equal to32 mug/L) was not significantly different in 1984 compared with 1994 either in premenopausal women (35.8% vs. 41.0%) (P = 0.15) or in postmenopausal women (9.7% vs. 7.4%) (P = 0.15). There was no significant difference between the two surveys concerning the prevalence of iron deficiency anaemia (ferritin 300 mug/L) was unchanged in premenopausal women and had increased from 2.4% to 5.5% in postmenopausal women (P = 0.003). During the study period there was an increase in body mass index both in premenopausal and postmenopausal women (P = 0.06 and P = 0.008). Postmenopausal women displayed an increase in alcohol consumption (P <0.0001) and a decrease in tobacco smoking (P <0.001). In premenopausal women, there was a marked increase in the use of non-ste

diabetes mellitus, ferritin, hemochromatosis, phlebotomy, transferrin

diabetes mellitus, ferritin, hemochromatosis, phlebotomy, transferrin