Diffuse giant tendon xanthomas in a patient with familial hypercholesterolaemia

Area of Science:

• Genetics
• Cardiovascular Medicine
• Metabolic Disorders

Background:

• Familial hypercholesterolaemia (FH) is an inherited condition characterized by elevated low-density lipoprotein cholesterol (LDL-C) levels.
• FH is a primary driver of atherosclerosis, a condition where artery walls thicken due to plaque buildup.
• The genetic basis of FH provides crucial evidence linking LDL-C to the development of atherosclerosis.

Observation:

• An 18-year-old female presented with noticeable swellings across her body.
• Physical examination and family history were indicative of xanthomas.
• Laboratory results confirmed the presence of giant tendon xanthomas, a hallmark of FH.

Findings:

• The patient was diagnosed with familial hypercholesterolaemia based on clinical presentation and diagnostic evaluations.
• Giant tendon xanthomas were identified as the cause of the patient's swellings.
• The case highlights the clinical manifestations of FH in a young adult.

Implications:

• Early diagnosis and management of FH are crucial to prevent premature cardiovascular events.
• Understanding the pathogenesis of FH aids in developing targeted therapeutic strategies.
• This case underscores the importance of recognizing xanthomas as potential indicators of underlying lipid disorders.