Familial hypercholesterolemia: The skin speaks.

Area of Science:

• Genetics and Molecular Biology
• Cardiovascular Medicine
• Metabolic Disorders

Background:

• Familial hypercholesterolaemia (FH) is an autosomal dominant genetic disorder affecting lipoprotein metabolism.
• It is characterized by elevated low-density lipoprotein (LDL) cholesterol, leading to premature cardiovascular disease (CVD).
• Defects in the low-density lipoprotein receptor (LDLR) gene are the primary cause of FH.

Observation:

• A 26-year-old male presented with multiple nodular eruptions on his limbs.
• Physical examination revealed lesions consistent with tendon xanthomas.
• The patient had a positive family history and abnormal lipid profile.

Findings:

• The case was diagnosed as Familial hypercholesterolaemia (FH).
• Biopsy confirmed tendon xanthomas, a hallmark of FH.
• Diagnostic criteria included family history, lipid abnormalities, and clinical presentation.

Implications:

• This case demonstrates that FH can be diagnosed and managed effectively at the primary care level.
• Early diagnosis and intervention in FH can mitigate the risk of premature cardiovascular disease.
• Primary care physicians play a crucial role in identifying and managing patients with FH.