Tendinous xanthoma with familial hypercholesterolemia

Roy, Aravind; Das, Sudip; Chowdhury, Joyeeta; Bhanja, Dulal Chandra

doi:10.4103/2229-5178.144546

Cited by 7 publications

(4 citation statements)

References 2 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…[ 1 ] The features of FH is characterized by high LDL cholesterol levels, while triglycerides are generally normal and high-density lipoprotein (HDL) cholesterol either normal or reduced. [ 2 ] In our case, laboratory investigation showed total serum cholesterol level of 11.45 mmol/L and the low-density lipoprotein (LDL) 8.24 mmol/L, while levels of high-density lipoprotein (HDL) and triglyceride were normal.…”

Section: Discussionmentioning

confidence: 67%

Familial Hypercholesterolemia Presenting as Cerebral Ischemia and Xanthoma

Yang

Liang

Jiang

2022

Indian Journal of Dermatology

View full text Add to dashboard Cite

Familial hypercholesterolemia (FH) is one of the inherited metabolic diseases, demonstrating the low-density lipoprotein receptor (LDLR) abnormality and serum cholesterol level marked elevation. FH has become an extremely high incident cause of occlusive coronary heart disease. However, even though hemorheological disorder caused by hyperlipidemia is a risk factor of ischemic cerebrovascular disease, cerebral infarction caused by FH has not been given much attention. We present a 41-year-old man with a family history of hypercholesterolemia was admitted to our hospital with dizziness, vertigo, slurred speech, and weakness in his left limbs. Head CT scan showed multiple acute cerebral infarction in the right frontal and parietal lobes. He had arcus corneae and less obvious signs of cutaneous xanthomas in the hands and knees. Molecular analysis of the LDLR gene identified heterozygous and missense mutation in exon 12 of the LDLR gene. The final diagnosis was cerebral infarction caused by FH. It is worth noting that cerebral infarction may also occur in patients with FH. Even if the most patients do not have any sign or history of cerebral ischemia, they need more attention to precise examination of the brain.

show abstract

Section: Discussionmentioning

confidence: 67%

Familial Hypercholesterolemia Presenting as Cerebral Ischemia and Xanthoma

Yang

Liang

Jiang

2022

Indian Journal of Dermatology

View full text Add to dashboard Cite

show abstract

“…They appear as slowly enlarging papules or subcutaneous nodules attached to tendons, ligaments, fascia and periosteum and commonly affect the tendons of the dorsal surface of the hands and the achilles tendon. Their presence is a clinical sign of familial hypercholesterolemia [19].…”

Section: Discussionmentioning

confidence: 99%

Prevalence of Cardiovascular Risk Factors and Heterozygous Familial Hypercholesterolemia in Premature Atherosclerotic Patients Presenting with Acute Coronary Syndrome

Reda¹,

Soliman²,

Elkersh³

et al. 2021

WJCD

View full text Add to dashboard Cite

Background: Heterozygous familial hypercholesterolemia is an autosomal dominant genetic disorder with an estimated prevalence of 1/200-1/500 in the general population. Early identification of patient with familial hypercholesterolemia is important, because appropriate treatment may reduce the risk of premature atherosclerosis. Objective: Assessment of the prevalence of different modifiable cardiovascular risk factors and clinical diagnosis of heterozygous familial hypercholesterolemia. Methods: One hundred patients were enrolled, included young patients (males less than 50 years and females less than 60 years old) presented with first attack of acute coronary syndrome either ST elevation myocardial infarction (STEMI), non ST elevation myocardial infarction (NSTEMI) or unstable angina (UA). All patients were subjected to full history taking, general and local examination, Electrocardiogram, transthoracic Echocardiography, laboratory investigations, coronary angiography and Dutch score calculation for familial hyperlipidemias. Results: The mean level of serum cholesterol among studied group was 268.31 ± 59.33, HDL-C was 39.63 ± 7.52, LDL was 192.27 ± 60.61 and TG was 180.10 ± 39.64. With application of Dutch score, 20% of patients diagnosed definite familial hypercholesterolemia with Dutch score > 8. Twenty-six percent of patients diagnosed as probable familial hypercholesterolemia with Dutch score 6-8. Thirty-nine percent patients diagnosed as possible familial hypercholesterolemia with Dutch score 3-5 and 15% of patients were unlikely familial hypercholesterolemia with Dutch score < 3 with significant correlation between Dutch score and age, total cholesterol, LDL-C, serum creatinine. Conclusion: Familial hypercholesterolemia (FH) is one of the most common serious genetic disorders of cholesterol metabolism.

show abstract

“…These macrophages are filled with lipid droplets that are dissolved and removed during tissue processing. [ 1 ]…”

Section: Discussionmentioning

confidence: 99%

Familial hypercholesterolemia: The skin speaks

Johnson

Paul

Cherian

et al. 2020

J Family Med Prim Care

View full text Add to dashboard Cite

Familial hypercholesterolaemia (FH) is an autosomal dominant inherited disorder of lipoprotein metabolism caused by defects in the low-density lipoprotein receptor (LDLR) gene. It is characterized by high low-density lipoprotein (LDL) cholesterol levels, premature cardiovascular disease (CVD), and tendon xanthomas. We present the case of a 26-year-old gentleman who presented with multiple nodular eruptions over the extensor aspects of upper and lower limbs and was diagnosed as FH on the basis of positive family history, typical lipid profile abnormalities, and biopsy of the nodule consistent with tendon xanthomas. The diagnosis and management of this case is deftly feasible at the primary care level.

show abstract

Tendinous xanthoma with familial hypercholesterolemia

Cited by 7 publications

References 2 publications

Familial Hypercholesterolemia Presenting as Cerebral Ischemia and Xanthoma

Familial Hypercholesterolemia Presenting as Cerebral Ischemia and Xanthoma

Prevalence of Cardiovascular Risk Factors and Heterozygous Familial Hypercholesterolemia in Premature Atherosclerotic Patients Presenting with Acute Coronary Syndrome

Familial hypercholesterolemia: The skin speaks

Contact Info

Product

Resources

About