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Background: Autosomal recessive hypercholesterolemia (ARH), a genetic disorder of the affecting lipid metabolism. We present a child with this disorder wo was long undiagnosed, for many years. Clinical Description: An 8-year-old girl presented with multiple soft, painless, progressively increasing since the age of 2 years. Although lipid profiles had been found to be abnormal, she was not evaluated nor treated till 8 years of age. On examination, the swellings were present over upper and lower limbs and buttocks. Management and Outcome: Low-density lipoprotein (LDL) levels were elevated. Histopathology of the lesions confirmed xanthoma with immunohistochemistry being positive for CD 68 and ki67 index - 15%–20%. Next-generation sequencing homozygous mutation involving intron 15 of chromosome variant c2312-1G > A, causing loss of function variant in gene LDL receptor. The child was treated with gradually increasing doses of atorvastatin, with periodic echocardiography. There was progressive lowering of LDL over 6 months. Conclusion: Ignorance among pediatricians regarding this rare entity of ARH may result in lack of initiation of treatment for years, which may lead to detrimental cardiovascular complications in later life. Genetic analysis and prompt treatment can help in improving lipid parameters.

Key Clinical Message: Early recognition and management of familial hypercholesterolemia (FH) are crucial, especially in patients with extensive xanthomas and premature coronary artery disease. Prompt diagnosis and aggressive lipid‐lowering therapy can significantly reduce morbidity and mortality rates. Careful clinical assessment in resource‐limited settings is essential for optimal outcomes. Familial hypercholesterolemia (FH) is an autosomal dominant inherited disorder that causes chronically elevated levels of low‐density lipoprotein (LDL) cholesterol. Based on LDL levels, FH can be heterozygous or homozygous, further established through clinical features, laboratory findings, and genetic analysis. Elevated cholesterol levels cause atherosclerosis, coronary artery disease, myocardial infarction, and sudden death. Xanthomas are a clinical manifestation of FH that reveal the underlying systemic genetic disease. We present the case of a 47‐year‐old male with triple vessel coronary artery disease and widespread xanthomas, diagnosed with homozygous FH based on "The Dutch Lipid Clinic Network Diagnostic Criteria for Familial Hypercholesterolemia." Lifelong therapy with lipid‐lowering medications and lifestyle changes is necessary in such cases. [ABSTRACT FROM AUTHOR]

ABSTRACT: Familial hypercholesterolemia is a multi-gene disorder affecting 1 in 200-500 individual which is characterized by increased level of total cholesterol and low density lipoprotein (LDL) which deposit cholesterol reach protein leading to xanthomas, corneal arcus and prone to develop risk for atherosclerosis and coronary heart disease. 11 year female, born of consanguineous marriage attended with yellowish patches (Xanthelasma) bilaterally present over upper eyelid, buttock since 5-6 years. In family history younger girl along with both parents has Xanthelasma. In investigations, routine blood, urine and ECG& ECHO was normal except lipid profile of patient and sibling was abnormal. Child was treated with atorvastatin and dietary advice. In follow up after 3 month, child had complained of neck pain and swelling to left side. Then USG neck and Color Doppler showed reduced diastolic flow of left ICA and type two plaques and type 111 plaque in Rt common carotid artery. Anti-platelets was added and referred to cardiologist for coronary angiography which showed LAD – proximal mid distal diffuse plaque, LCX- proximal eccentric plaque. This case highlights the significance of conscious and proactive genetic screening for familial hypercholesterolemia especially in consanguineous marriage, to diagnose, treat and prevent mortality with premature coronary artery disease. [ABSTRACT FROM AUTHOR]

Key Clinical Message Early recognition and management of familial hypercholesterolemia (FH) are crucial, especially in patients with extensive xanthomas and premature coronary artery disease. Prompt diagnosis and aggressive lipid‐lowering therapy can significantly reduce morbidity and mortality rates. Careful clinical assessment in resource‐limited settings is essential for optimal outcomes. Abstract Familial hypercholesterolemia (FH) is an autosomal dominant inherited disorder that causes chronically elevated levels of low‐density lipoprotein (LDL) cholesterol. Based on LDL levels, FH can be heterozygous or homozygous, further established through clinical features, laboratory findings, and genetic analysis. Elevated cholesterol levels cause atherosclerosis, coronary artery disease, myocardial infarction, and sudden death. Xanthomas are a clinical manifestation of FH that reveal the underlying systemic genetic disease. We present the case of a 47‐year‐old male with triple vessel coronary artery disease and widespread xanthomas, diagnosed with homozygous FH based on “The Dutch Lipid Clinic Network Diagnostic Criteria for Familial Hypercholesterolemia.” Lifelong therapy with lipid‐lowering medications and lifestyle changes is necessary in such cases.

Introduction: Xanthelasma palpebrarum is considered to be a cutaneous marker for cardiovascular diseases, and there is a known association with hypertension, insulin resistance, diabetes mellitus, obesity and stroke. Objectives: Our aim was to study the association and identify the predictors of Metabolic Syndrome in patients of xanthelasma palpebrarum. Methods: An observational study was conducted on 55 patients in which patients of both sexes between the ages of 20-70 years without any other skin condition were included after written informed consent. After history and examination, blood pressure and waist circumference were measured in all the subjects. Investigations were sent for fasting blood sugar levels and serum lipid profile. The 2006 IDF Definition of Metabolic Syndrome was used as assessment criteria. Results: Among the 55 patients, metabolic syndrome was present in 23 patients (41.82%). There was a statistically significant (p

Abstract Background Homozygous familial hypercholesterolemia (HoFH) is an orphan metabolic disease characterized by extremely elevated low-density lipoprotein cholesterol (LDL-C), xanthomas, aortic stenosis, and premature atherosclerotic cardiovascular disease (ASCVD). In addition to LDL-C, studies in experimental models and small clinical populations have suggested that other types of metabolic molecules might also be risk factors responsible for cardiovascular complications in HoFH, but definitive evidence from large-scale human studies is still lacking. Herein, we aimed to comprehensively characterize the metabolic features and risk factors of human HoFH by using metabolic systems strategies. Methods Two independent multi-center cohorts with a total of 868 individuals were included in the cross-sectional study. First, comprehensive serum metabolome/lipidome-wide analyses were employed to identify the metabolomic patterns for differentiating HoFH patients (n = 184) from heterozygous FH (HeFH, n = 376) and non-FH (n = 100) subjects in the discovery cohort. Then, the metabolomic patterns were verified in the validation cohort with 48 HoFH patients, 110 HeFH patients, and 50 non-FH individuals. Subsequently, correlation/regression analyses were performed to investigate the associations of clinical/metabolic alterations with typical phenotypes of HoFH. In the prospective study, a total of 84 HoFH patients with available follow-up were enrolled from the discovery cohort. Targeted metabolomics, deep proteomics, and random forest approaches were performed to investigate the ASCVD-associated biomarkers in HoFH patients. Results Beyond LDL-C, various bioactive metabolites in multiple pathways were discovered and validated for differentiating HoFH from HoFH and non-FH. Our results demonstrated that the inflammation and oxidative stress-related metabolites in the pathways of arachidonic acid and lipoprotein(a) metabolism were independently associated with the prevalence of corneal arcus, xanthomas, and supravalvular/valvular aortic stenosis in HoFH patients. Our results also identified a small marker panel consisting of high-density lipoprotein cholesterol, lipoprotein(a), apolipoprotein A1, and eight proinflammatory and proatherogenic metabolites in the pathways of arachidonic acid, phospholipid, carnitine, and sphingolipid metabolism that exhibited significant performances on predicting first ASCVD events in HoFH patients. Conclusions Our findings demonstrate that human HoFH is associated with a variety of metabolic abnormalities and is more complex than previously known. Furthermore, this study provides additional metabolic alterations that hold promise as residual risk factors in HoFH population.

Abstract Background Familial hypercholesterolemia (FH) is an under-diagnosed autosomal co-dominant genetic disorder characterized by very high plasma levels of low-density lipoprotein cholesterol (LDL-C), premature coronary artery disease (CAD) with arcus cornealis, and xanthomas. Among patients with CAD, the frequency of FH is significantly higher than that of the general population, but little data are available in India in this regard. This study aimed to assess the prevalence of FH in patients with premature coronary artery disease for the first time in the Jharkhand population. Results The study was conducted on 200 premature CAD patients at RIMS hospital, Ranchi, from January 2020 to June 2021 with CAG-confirmed acute coronary syndrome. The study, without taking the aid of genetic profiling of the patients and using the Dutch Lipid Clinic Network Criteria, revealed quite a high (23.5%) prevalence of potential FH in patients with premature CAD apart from the conventional risk factors. Mean LDL-C levels among patients with definite, probable, possible, and no FH were recorded as 250.39, 184.32, 136.11, and 108.09 mg/dl, respectively. Arcus cornealis was seen in 55.31% of patients with potential FH, 90% in definite FH, and 44.40% with probable FH. Patients with potential FH were more likely to be younger (age

ABSTRACT: Diseases related to lipid metabolism disorders are reported in several orders of birds, especially in psittacines, and include obesity, atherosclerosis, hepatic lipidosis, egg yolk coelomitis, lipomas, liposarcomas, xanthomas and xanthogranulomas. This study describes epidemiological, clinical and anatomopathological aspects of 28 cases involving lipid-related lesions in wild and pet birds from Northeastern Brazil. The cases were selected from 313 avian patients referred to the UFPB Veterinary Hospital from 2018 to 2022. Lipid-related tumors were the most frequent lesions, followed by obesity, hepatic steatosis, egg yolk coelomitis, atherosclerosis and lipemia. The Psittaciformes order was the most affected, and an erroneous diet (excess consumption of sunflower seeds, bread, crackers, rice, etc.) was identified as the main risk factor for the development of these lesions, which reinforces the need to warn bird owners and caretakers about the importance of adequate nutrition. Forty-nine percent of the reported tumors were in the pericloacal region, which makes lipomas and xanthomas an important differential diagnosis for nodules in this location of birds, especially psittacids.

Background: Homozygous familial hypercholesterolemia (HoFH) is an orphan metabolic disease characterized by extremely elevated low-density lipoprotein cholesterol (LDL-C), xanthomas, aortic stenosis, and premature atherosclerotic cardiovascular disease (ASCVD). In addition to LDL-C, studies in experimental models and small clinical populations have suggested that other types of metabolic molecules might also be risk factors responsible for cardiovascular complications in HoFH, but definitive evidence from large-scale human studies is still lacking. Herein, we aimed to comprehensively characterize the metabolic features and risk factors of human HoFH by using metabolic systems strategies. Methods: Two independent multi-center cohorts with a total of 868 individuals were included in the cross-sectional study. First, comprehensive serum metabolome/lipidome-wide analyses were employed to identify the metabolomic patterns for differentiating HoFH patients (n = 184) from heterozygous FH (HeFH, n = 376) and non-FH (n = 100) subjects in the discovery cohort. Then, the metabolomic patterns were verified in the validation cohort with 48 HoFH patients, 110 HeFH patients, and 50 non-FH individuals. Subsequently, correlation/regression analyses were performed to investigate the associations of clinical/metabolic alterations with typical phenotypes of HoFH. In the prospective study, a total of 84 HoFH patients with available follow-up were enrolled from the discovery cohort. Targeted metabolomics, deep proteomics, and random forest approaches were performed to investigate the ASCVD-associated biomarkers in HoFH patients. Results: Beyond LDL-C, various bioactive metabolites in multiple pathways were discovered and validated for differentiating HoFH from HoFH and non-FH. Our results demonstrated that the inflammation and oxidative stress-related metabolites in the pathways of arachidonic acid and lipoprotein(a) metabolism were independently associated with the prevalence of corneal arcus, xanthomas, and supravalvular/valvular aortic stenosis in HoFH patients. Our results also identified a small marker panel consisting of high-density lipoprotein cholesterol, lipoprotein(a), apolipoprotein A1, and eight proinflammatory and proatherogenic metabolites in the pathways of arachidonic acid, phospholipid, carnitine, and sphingolipid metabolism that exhibited significant performances on predicting first ASCVD events in HoFH patients. Conclusions: Our findings demonstrate that human HoFH is associated with a variety of metabolic abnormalities and is more complex than previously known. Furthermore, this study provides additional metabolic alterations that hold promise as residual risk factors in HoFH population. [ABSTRACT FROM AUTHOR]

Purpose of Review: The purpose of this review was to summarize important and updated information on sitosterolemia. Sitosterolemia is an inherited lipid disorder consisting of high levels of plasma plant sterols. This sterol storage condition is caused by biallelic loss-of-function genetic variants in either ABCG5 or ABCG8, leading to increased intestinal absorption and decreased hepatic excretion of plant sterols. Clinically, patients with sitosterolemia usually exhibit xanthomatosis, high levels of plasma cholesterol, and premature atherosclerotic disease, but presentation can be highly heterogeneous. Therefore, recognition of this condition requires a high level of suspicion, with confirmation upon genetic diagnosis or through measurement of plasma phytosterols. Treatment of sitosterolemia with both a plant sterol-restricted diet and the intestinal cholesterol absorption inhibitor ezetimibe can reduce efficiently the levels of plasma plant sterols, consisting in the first-line therapy for this disease. Recent Findings: Since hypercholesterolemia is often present in individuals with sitosterolemia, it is important to search for genetic variants in ABCG5 and ABCG8 in patients with clinical criteria for familial hypercholesterolemia (FH), but no variants in FH implicated genes. Indeed, recent studies have suggested that genetic variants in ABCG5/ABCG8 can mimic FH, and even when in heterozygosis, they may potentially exacerbate the phenotype of patients with severe dyslipidemia. Summary: Sitosterolemia is a genetic lipid disorder characterized by increased circulating levels of plant sterols and clinically manifested by xanthomatosis, hematologic disorders, and early atherosclerosis. Awareness about this condition, a rare, but commonly underdiagnosed and yet treatable cause of premature atherosclerotic disease, is imperative. [ABSTRACT FROM AUTHOR]

Background Homozygous familial hypercholesterolemia (HoFH) is a rare, treatment‐resistant disorder characterized by early‐onset atherosclerotic and aortic valvular cardiovascular disease if left untreated. Contemporary information on HoFH in the United States is lacking, and the extent of underdiagnosis and undertreatment is uncertain. Methods and Results Data were analyzed from 67 children and adults with clinically diagnosed HoFH from the CASCADE (Cascade Screening for Awareness and Detection) FH Registry. Genetic diagnosis was confirmed in 43 patients. We used the clinical characteristics of genetically confirmed patients with HoFH to query the Family Heart Database, a US anonymized payer health database, to estimate the number of patients with similar lipid profiles in a “real‐world” setting. Untreated low‐density lipoprotein cholesterol levels were lower in adults than children (533 versus 776 mg/dL; P=0.001). At enrollment, atherosclerotic cardiovascular disease and supravalvular and aortic valve stenosis were present in 78.4% and 43.8% and 25.5% and 18.8% of adults and children, respectively. At most recent follow‐up, despite multiple lipid‐lowering treatment, low‐density lipoprotein cholesterol goals were achieved in only a minority of adults and children. Query of the Family Heart Database identified 277 individuals with profiles similar to patients with genetically confirmed HoFH. Advanced lipid‐lowering treatments were prescribed for 18%; 40% were on no lipid‐lowering treatment; atherosclerotic cardiovascular disease was reported in 20%; familial hypercholesterolemia diagnosis was uncommon. Conclusions Only patients with the most severe HoFH phenotypes are diagnosed early. HoFH remains challenging to treat. Results from the Family Heart Database indicate HoFH is systemically underdiagnosed and undertreated. Earlier screening, aggressive lipid‐lowering treatments, and guideline implementation are required to reduce disease burden in HoFH.

Background: Familial hypercholesterolemia (FH) is an under-diagnosed autosomal co-dominant genetic disorder characterized by very high plasma levels of low-density lipoprotein cholesterol (LDL-C), premature coronary artery disease (CAD) with arcus cornealis, and xanthomas. Among patients with CAD, the frequency of FH is significantly higher than that of the general population, but little data are available in India in this regard. This study aimed to assess the prevalence of FH in patients with premature coronary artery disease for the first time in the Jharkhand population. Results: The study was conducted on 200 premature CAD patients at RIMS hospital, Ranchi, from January 2020 to June 2021 with CAG-confirmed acute coronary syndrome. The study, without taking the aid of genetic profiling of the patients and using the Dutch Lipid Clinic Network Criteria, revealed quite a high (23.5%) prevalence of potential FH in patients with premature CAD apart from the conventional risk factors. Mean LDL-C levels among patients with definite, probable, possible, and no FH were recorded as 250.39, 184.32, 136.11, and 108.09 mg/dl, respectively. Arcus cornealis was seen in 55.31% of patients with potential FH, 90% in definite FH, and 44.40% with probable FH. Patients with potential FH were more likely to be younger (age < 40 years) males, having a history of CAD and a family history of premature CAD as compared to patients without FH. Conclusions: There was no previous report of large studies on FH or its epidemiology and its natural history from India. The present study is the first one to show a high prevalence of potential FH in premature CAD (about 23.5%). This preliminary study revealed that the prevalence of FH in patients with premature CAD who came to the tertiary care hospital of Ranchi, Jharkhand, was high, apart from the conventional risk factors. [ABSTRACT FROM AUTHOR]

Diabetic ketoacidosis (DKA) is the most common life-threatening complication of diabetes, especially in type 1 diabetes mellitus (T1DM). Severe dyslipidaemia causing extensive xanthomas is very rarely reported in DKA. We report the case of a 30-year-old male with T1DM who presented with features of ketoacidosis and had extensive eruptive xanthomas. Blood samples drawn on admission showed excessively lipemic serum and marked dyslipidaemia after analysis. The patient was treated with insulin, rehydration and statins with good clinical outcome. The present case highlights the importance of serial monitoring of lipids and early lipid-lowering therapy in DKA presenting with severe dyslipidaemia, especially when occurring with cutaneous symptoms.

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In the presented case report, 27-year-old female patient consulted a dermatologist and a lipidologist due to the appearance of small red spots on the skin. At the stage of examination in the lipid center, the patient was diagnosed with diabetes. During additional examination in the department of endocrinology, the following diagnosis was made: "Newlu-diagnosed type 1 diabetes. Target glycated hemoglobin level 6,5%. Secondary dyslipidemia. Skin xanthomatosis". After the start of therapy, laboratory parameters improved and the number of eruptive xanthomas decreased. Eruptive xanthomatosis in clinical practice is rare, and requires apprehensive attitude of doctors of various specialties. Timely detection of lipid metabolism disorders allows patients to recommend not only rational measures to prevent the development and progression of atherosclerosis, but also to diagnose the causes of secondary dyslipidemia.

Abstract Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of bile acid synthesis caused by pathogenic variants in the CYP27A1 gene encoding the mitochondrial enzyme sterol 27‐hydroxylase. Patients with CTX can present with a wide range of symptoms, but most often have evidence of tendon xanthomas along with possible cataracts, atherosclerosis, or neurological dysfunction. Regardless of clinical phenotype, CTX patients typically exhibit levels of cholestanol and bile acid precursors in the circulation that are many fold increased over normal control concentrations. Here we report two siblings, one with the rare spinal xanthomatosis phenotype and the other with a very mild form of CTX manifesting as minor tendon xanthomatosis and gastrointestinal complaints who both carry compound heterozygous variants in CYP27A1: NM_000784.3: c.410G > A (p.Arg137Gln) and c.1183C > T (p.Arg395Cys). However, biochemical analysis of these patients revealed normal levels of serum cholestanol and relatively mild elevations of the bile acid precursors 7α‐hydroxy‐4‐cholesten‐3‐one and 7α,12α‐dihydroxy‐4‐cholesten‐3‐one. The atypical biochemical presentation of these cases represents a diagnostic challenge for a disorder once thought to have a sensitive biomarker in cholestanol and highlight the need for thorough investigation of patients with symptomatology consistent with CTX that includes bile acid precursor biochemical testing and molecular analysis.

A 14-year-old girl presented with gradually progressive breathlessness for 3 weeks. On evaluation, it was found that she had left ventricular hypertrophy and nonprogressive R wave in ECG. An echocardiogram revealed aortic stenosis and severe left ventricular dysfunction.Computed Tomography (CT) imaging showed aortic annulus calcifications causing aortic stenosis. Over three years she had gradually developed asymptomatic cutaneous swellings over the small and large joints of the extremities suggestive of tuberous xanthomas. Skin biopsy revealed scattered foamy macrophages in the upper dermis and cholesterol clefts. Her lipid profile showed raised total cholesterol and low-density lipoprotein levels. With the above clinical, histological, and laboratory findings she was diagnosed as a case of familial homozygous hypercholesterolemia with tuberous xanthomas and cardiac failure. She was started on statins, ezetimibe, and other anti-failure measures. We present this case for its rarity. Early diagnosis of this condition based on skin findings, could have prevented cardiac failure by initiating early appropriate treatment.

Familial hypercholesterolemia (FH) is characterized by an increase in plasma low-density lipoprotein-cholesterol (LDL-C) levels. It presents with tendon/skin xanthomas and premature atherosclerotic cardiovascular disease. The most available treatment options for FH are lipid-lowering medications such as statins, lifestyle modification, and LDL apheresis. As per American Society for Apheresis guidelines 2019, the treatment of FH using LDL apheresis falls under Category I. Here, we are reporting an interesting case of a young patient who presented with chief complaints of progressively increasing yellowish lesions around eyes, neck, hands, and legs. She was thoroughly investigated and was diagnosed provisionally as a case of Type 2 FH. Her total serum cholesterol and LDL-C were 717.2 mg/dl and 690.6 mg/dl, respectively, at presentation. One cycle of LDL apheresis was planned for her. We found immediate post-procedural reduction of 55.8% and 55.3% for total serum and LDL cholesterol levels respectively while 70.58% and 77.41% reduction in the levels from the day of presentation to the hospital.

Diabetic ketoacidosis (DKA) is the most common life-threatening complication of diabetes, especially in type 1 diabetes mellitus (T1DM). Severe dyslipidaemia causing extensive xanthomas is very rarely reported in DKA. We report the case of a 30-year-old male with T1DM who presented with features of ketoacidosis and had extensive eruptive xanthomas. Blood samples drawn on admission showed excessively lipemic serum and marked dyslipidaemia after analysis. The patient was treated with insulin, rehydration and statins with good clinical outcome. The present case highlights the importance of serial monitoring of lipids and early lipid-lowering therapy in DKA presenting with severe dyslipidaemia, especially when occurring with cutaneous symptoms. [ABSTRACT FROM AUTHOR]

Background: Xanthelasma palpebrarum [XP] is the most common of the xanthomas with asymptomatic, symmetrical, bilateral, soft, yellow, polygonal papules around the eyelids. The surgical laser offers an extremely elegant and powerful solution to this problem. Aim of the work:To evaluate the efficacy of Argon Laser in treatment of xanthelasma palpebrarum, based on ultrasound biomicroscopy [UBM]. Preoperatively, full history and clinical examination had been carried out. Patients and Methods: The study included 45 eyelids of 27 patients [13 males and 14 females] presenting with xanthelasma lesion. They underwent single session treatment of XP by Argon Laser, which had been performed on an outpatient basis. Postoperative UBM had been used to ensure eradication of the lesion. Follow up of the patient every 2 weeks in the first month then after 6 months]. Results: The UBM was successfully used preoperatively to determine the maximal lesion thickness that can be effectively safely eradicated in only single session. The therapy was well tolerated, and all lesions responded to the therapy in only single session. There were no functional or relevant aesthetic complications. The cosmetic outcome was considered to be excellent in 80% and good in 6.7%of the cases. The study included 45 eyelids, 36 [80.0%] of them had excellent, 3 [6.7%] had good, 2 [4.4%] had satisfactory and only 4[8.9%] patients had poor cosmetic outcome. There were no recorded recurrent cases [0.0%] in the present study. Conclusion: Argon laser photocoagulation [single session] represents an alternative treatment in selected cases. It is easy to be performed well tolerated by the patients. In addition, UBM was important to determine the maximal lesion thickness that can be eradicated safely in only one session.

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• Sitosterolemia can be a multi-system disorder and is easily misdiagnosed. • Abnormal blood cell morphology is relatively distinctive feature of sitosterolemia. • Gene testing and plant sterols analysis help confirm a diagnosis of sitosterolemia. Sitosterolemia is a rare form of dyslipidemia that has diverse clinical manifestations, and insufficient knowledge of the disease frequently leads to a delay in diagnosis. We report a case of sitosterolemia in a 26-year-old Chinese woman, characterized by anemia, thrombocytopenia, persistent hypercholesterolemia, premature atherosclerosis, extensive xanthoma, and arthralgia-tenosynovitis. Successive misdiagnoses of Evans syndrome and familial hypercholesterolemia had been made, and the patient had responded minimally to steroid therapy, splenectomy, and statin treatment; therefore, she was referred to our hospital. On admission, a peripheral blood smear revealed the presence of abnormally shaped erythrocytes and giant platelets. Multiple atherosclerotic lesions, sites of tenosynovitis, and carotid sheath xanthomas were identified on ultrasonography. Compound heterozygous mutations of the ABCG5 gene, including a hot variant (c.1,336, exon10 C>T, p.(R446*)) and a novel variant (c.1,325-3(IVS9)_c.1325-2(IVS9)delCA) were separately identified in her parents by pedigree analysis. Plant sterols analysis by high performance liquid chromatography method revealed remarkably elevated plasma plant sterol concentrations after drug withdrawal but reduced rapidly after restarting ezetimibe during follow-up period. After 21 months of treatment with ezetimibe and a low-plant sterol diet, her hematologic abnormalities, tenosynovitis, and hypercholesterolemia had significantly improved; and ultrasonography showed that her skin and carotid sheath xanthomas had resolved or shrunk. This case demonstrates that morphological changes in blood cells on a peripheral blood smear, ultrasonographic findings and ABCG5/ABCG8 gene screening are valuable, and plant sterol analysis in serum is crucial to confirm diagnosis and assess treatment adequacy for sitosterolemia. [ABSTRACT FROM AUTHOR]

Introduction: Xanthelasma palpebrarum (XP) is the most common of all the xanthomas which presents as asymptomatic, often bilateral, soft, yellow, papules and plaques around the eyelids. Although, the lesions are benign, it is aesthetically upsetting. The surgical laser is the most effective treatment modality to this problem. Aim: To evaluate the efficacy and safety of ultrapulse Carbon dioxide (CO2 ) laser in XP in Indian patients. Materials and Methods: It is a prospective, interventional study carried out for two years in which 29 patients with 61 XP lesions were part of the study. Ultrapulse CO2 (Fraxis Duo laser; 10,600 nm) laser treatment was done in every patient for a single sitting. Statistical significance was calculated using Chi-square test using Statistical Packages for Social Sciences (SPSS) version 19.0. The p-value of 0.001 was considered statistically significant. Results: A total number of 29 patients with 61 xanthelasma lesions were included in the study, of which 11 were males and 18 were females with an age range of 27-54 years. In the present study XP lesions were completely resolved in majority (54 lesions in 25 patients) of treated patients. No intraoperative complications were observed. Two patients showed hypopigmentation. There was neither scarring nor recurrence seen after six months follow-up. Conclusion: Ultrapulse CO2 laser is a safe and effective option of treatment for xanthelasma. It is considered as less painful procedure with fewer side effects and recurrences in the present study.

Introduction: Xanthelasma palpebrarum (XP) is the most common of all the xanthomas which presents as asymptomatic, often bilateral, soft, yellow, papules and plaques around the eyelids. Although the lesions are benign, it is aesthetically upsetting. The surgical laser is the most effective treatment modality to this problem. Aim: To evaluate the efficacy and safety of ultrapulse carbondioxide (CO2) laser in xanthelasma palpebrarum in Indian patients. Materials and Methods: It is a prospective, interventional study carried out for two years in which 29 patients with 61 XP lesions were part of the study. Ultrapulse CO2 (Fraxis Duo laser; 10,600 nm) laser treatment was done in every patient for a single sitting. Statistical significance was calculated using Chi-square test using Statistical Packages for Social Sciences (SPSS) version 19.0. The p-value of 0.001 was considered statistically significant. results: A total number of 29 patients with 61 xanthelasma lesions were included in the study, of which 11 were males and 18 were females with an age range of 27 to 54 years. In the present study XP lesions were completely resolved in majority (54 lesions in 25 patients) of treated patients. No intraoperative complications were observed. Two patients showed hypopigmentation. There was neither scarring nor recurrence seen after six months follow-up. conclusion: Ultrapulse CO2 laser is a safe and effective option of treatment for xanthelasma. It is considered as less painful procedure with fewer side effects and recurrences in the present study. [ABSTRACT FROM AUTHOR]

These guidelines represent all current aspects of etiology, diagnosis, and treatment of the clinical and statistical group of familial hypercholesterolemia in both adults and children in accordance with the requirements of the Ministry of Health of Russia.

• Carotid sheath xanthoma could be a rare manifestation of lipid disorders. • Carotid sheath xanthoma provides a clue on the diagnosis of FH or sitosterolemia. • Treatment of the primary disease could contribute to the regression. Xanthomas are visibly deformed cholesterol deposits that are commonly associated with lipid disorders, such as familial hypercholesterolemia (FH) or rare sitosterolemia. We present the first report of two cases of carotid sheath xanthomas in patients with lipid disorders. Case 1 involved a 26-year-old woman presenting with two heterogeneous mutations on the ABCG5 gene—as noted on genetic testing—who was finally diagnosed with sitosterolemia. Ultrasonography (US) revealed hypoechoic masses centered in the bilateral carotid sheath, which gradually reduced in size after diet control and the use of ezetimibe. Case 2 involved a 27-year-old man who was diagnosed with possible FH and had recurrent bilateral buttock xanthomas, as well as bilateral carotid sheath masses detected by US. Postoperative pathological examination of the resected right neck mass confirmed a xanthoma with proliferation of multinucleated giant cells and deposition of cholesterol clefts. [ABSTRACT FROM AUTHOR]

A 14-year-old girl presented with gradually progressive breathlessness for 3 weeks. On evaluation, it was found that she had left ventricular hypertrophy and nonprogressive R wave in ECG. An echocardiogram revealed aortic stenosis and severe left ventricular dysfunction.Computed Tomography (CT) imaging showed aortic annulus calcifications causing aortic stenosis. Over three years she had gradually developed asymptomatic cutaneous swellings over the small and large joints of the extremities suggestive of tuberous xanthomas. Skin biopsy revealed scattered foamy macrophages in the upper dermis and cholesterol clefts. Her lipid profile showed raised total cholesterol and low-density lipoprotein levels. With the above clinical, histological, and laboratory findings she was diagnosed as a case of familial homozygous hypercholesterolemia with tuberous xanthomas and cardiac failure. She was started on statins, ezetimibe, and other anti-failure measures. We present this case for its rarity. Early diagnosis of this condition based on skin findings, could have prevented cardiac failure by initiating early appropriate treatment. [ABSTRACT FROM AUTHOR]

Sitosterolemia is an autosomal recessive and very rare disease. Its main characteristic is that there is a greater absorption and a decrease in the excretion of sterols, which leads to them being deposited in tissues. It is given by mutations in the ABCG5 or ABCG8 genes found on chromosome 2p21. In this clinical note, we describe the first two patients with familial sitosterolemia described in Colombia, brothers, one of them with xanthomas in extremities as the only symptom, and the other, completely asymptomatic. Genetic studies were performed as a diagnostic test in both patients, where a pathogenic homozygous variant could be identified in the ABCG8 gene in the first case (symptomatic), and a heterozygous variant in the ABCG8 gene in the second case (asymptomatic); the first patient has responded to treatment with ezetimibe. In conclusion, xanthomas should be studied in depth in pediatric age as they may be the only visible sign of such complex and hereditary diseases as familial sitosterolemia, which can be controlled and prevent cardiovascular complications of the disease., (Copyright © 2024 Sociedad Española de Arteriosclerosis. Publicado por Elsevier España, S.L.U. All rights reserved.)

We report here a case of an 11-year-old adolescent boy who presented with asymptomatic multiple yellowish skin lesions and corneal arcus. A family history of similar complaints was present in the elder male sibling who died with underlying coronary artery disease. Laboratory findings and family history were consistent with homozygous familial hypercholesterolemia. He was started on lipid-lowering drugs and is under regular follow-up. Early diagnosis and timely initiation of treatment helped to save the affected individual and the other family members.

Cerebrotendinous xanthomatosis is a rare autosomal recessive disorder. It occurs as a mutation in the CYP27A1 gene with nine exons in the Long arm of chromosome 2. The patient was diagnosed with epilepsy in our clinic for seven years and was diagnosed with cerebrotendinous xanthomatosis with a weakness in the lower extremities that appeared a few years ago. We think that especially it is worth mentioning that it is a rare disease in childhood and it is diagnosed early.

Familial hypercholesterolemia (FH) is characterized by an increase in plasma low-density lipoprotein-cholesterol (LDL-C) levels. It presents with tendon/skin xanthomas and premature atherosclerotic cardiovascular disease. The most available treatment options for FH are lipid-lowering medications such as statins, lifestyle modification, and LDL apheresis. As per American Society for Apheresis guidelines 2019, the treatment of FH using LDL apheresis falls under Category I. Here, we are reporting an interesting case of a young patient who presented with chief complaints of progressively increasing yellowish lesions around eyes, neck, hands, and legs. She was thoroughly investigated and was diagnosed provisionally as a case of Type 2 FH. Her total serum cholesterol and LDL-C were 717.2 mg/dl and 690.6 mg/dl, respectively, at presentation. One cycle of LDL apheresis was planned for her. We found immediate post-procedural reduction of 55.8% and 55.3% for total serum and LDL cholesterol levels respectively while 70.58% and 77.41% reduction in the levels from the day of presentation to the hospital. [ABSTRACT FROM AUTHOR]

Abstract Background Familial hypercholesterolemia (FH) is a genetic disorder that result in abnormally high low-density lipoprotein cholesterol levels, markedly increased risk of coronary heart disease (CHD) and tendon xanthomas (TX). However, the clinical expression is highly variable. TX are present in other metabolic diseases that associate increased sterol concentration. If non-cholesterol sterols are involved in the development of TX in FH has not been analyzed. Methods Clinical and biochemical characteristics, non-cholesterol sterols concentrations and Aquilles tendon thickness were determined in subjects with genetic FH with (n = 63) and without (n = 40) TX. Student-t test o Mann–Whitney test were used accordingly. Categorical variables were compared using a Chi square test. ANOVA and Kruskal–Wallis tests were performed to multiple independent variables comparison. Post hoc adjusted comparisons were performed with Bonferroni correction when applicable. Correlations of parameters in selected groups were calculated applying the non-parametric Spearman correlation procedure. To identify variables associated with Achilles tendon thickness changes, multiple linear regression were applied. Results Patients with TX presented higher concentrations of non-cholesterol sterols in plasma than patients without xanthomas (P = 0.006 and 0.034, respectively). Furthermore, there was a significant association between 5α-cholestanol, β-sitosterol, desmosterol, 24S-hydroxycholesterol and 27-hydroxycholesterol concentrations and Achilles tendon thickness (p = 0.002, 0.012, 0.020, 0.045 and 0.040, respectively). Conclusions Our results indicate that non-cholesterol sterol concentrations are associated with the presence of TX. Since cholesterol and non-cholesterol sterols are present in the same lipoproteins, further studies would be needed to elucidate their potential role in the development of TX.

Familial hypercholesterolemia (FH) is a form of genetic dyslipidemia characterized by high levels of serum low-density lipoprotein cholesterol, tendon xanthomas, and family history of heart disease or elevated cholesterol. We report the case of a 24-year-old young male who presented with acute coronary syndrome, multiple skin and tendon xanthomas, family history of premature cardiac death and diagnosed as FH with coronary artery disease which was treated with percutaneous coronary intervention and lipid-lowering therapy.

Familial Hypercholesterolaemia is a common genetic cause of premature Coronary heart Disease (CHD). It is an autosomal, dominant, inherited disorder of lipoprotein metabolism that results in a raised Low Density Lipoprotein Cholesterol (LDL-C) plasma concentration. The current study presented a 36 year old female having angina on exertion class 2 for past 1 year. She had large xanthomas over dorsal aspect of both the hands and feet and xanthelasma over eyelid. She was diagnosed as case of familial hypercholesterolemia. Her vascular profile revealed aortic root calcification, left main with triple vessel disease, right common carotid artery stenosis and atherosclerotic narrowing of aorta distal to left subclavian artery.

If undiagnosed and untreated, familial hypercholesterolemia can lead to serious cardiac complications, such as premature atherosclerotic cardiovascular disease. NPs should be familiar with the clinical presentation of this inherited metabolic disease to diagnose patients as early as possible and promptly begin treatment that may include lifestyle changes, statin therapy, and/or nonstatin therapy. [ABSTRACT FROM AUTHOR]

A 9-year-old male child presented with asymptomatic skin-colored-to-yellowish nodules over both the buttocks, feet, and over the right Achilles' tendon for 4 years. There was a history of similar complaints in elder sibling and also a history of premature sudden cardiac death in father. Biopsy from the lesions was suggestive of xanthoma. Fasting lipid profile was consistent with the pattern of Type IIa hyperlipoproteinemia. The child was further worked up for systemic involvement which was normal. He was started on rosuvastatin and fenofibrate and is under regular follow-up. The timely diagnosis of familial hypercholesterolemia, especially the homozygous variant, is important for early intervention and prevention of complications.