Project Description

Author: Rahman et al.


Familial Hypercholesterolemia (FH) is an autosomal dominant disorder characterized by elevated serum low-density lipoprotein cholesterol (LDL-C) levels, tendon xanthomas, and an increased risk of atherosclerotic heart disease. Diagnosing Familial Hypercholesterolemia (FH) at an early age is crucial due to its potential to lead to severe cardiovascular complications, including heart failure, joint deformities and strokes. Early detection allows for timely intervention, such as lifestyle modifications and pharmacological treatments, which can significantly reduce these risks.

Case Presentations: In this case report, we present a case of FH in a 13-year-old girl residing in Faridpur, Bangladesh. The patient presented with a distinctive clinical profile including the presence of tendon xanthoma in hands and eruptive xanthoma in elbow, knee and buttocks as well as recent development of aortic valvular diseases. The patient was diagnosed early and underwent treatment through both lifestyle changes and medication. Additionally, her family received genetic counselling and she was scheduled for regular follow-up.

This case underscores the significance of identifying the early physical signs in the diagnosis and management of FH, particularly in settings where genetic testing may be limited. Moreover, the unique coexistence of FH with hand joint deformity and aortic valvular heart disease serves as a clinical clue that can facilitate early diagnosis and appropriate therapeutic interventions. Early diagnosis, as exemplified by this case, is essential in timely and tailored management, thus reducing the burden of atherosclerotic heart disease in affected individuals.

Keyword: Familial Hypercholesterolemia, Case Report, Autosomal Dominant Disorder, Tendon Xanthoma, Aortic Valve disease

Status: Ongoing

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