Homozygous Familial Hypercholesterolemia Associated with Symmetric Subcutaneous Lipomatosis

Area of Science:

• Genetics
• Metabolic Disorders
• Cardiovascular Diseases

Background:

• Familial hypercholesterolemia (FH) is an autosomal dominant lipid metabolism disorder.
• Characterized by impaired low-density lipoprotein-cholesterol (LDL-C) clearance, leading to premature cardiovascular disease.
• Homozygous FH (HoFH) is a rare, severe form with an incidence of approximately one in one million.

Purpose of the Study:

• To report a case of HoFH in two young Egyptian siblings.
• To describe the clinical presentation, including rare associated symptoms.
• To contribute to understanding the phenotypic spectrum of HoFH.

Main Methods:

• Clinical case report.
• Patient history and physical examination.
• Diagnostic evaluation for lipid metabolism disorders.

Main Results:

• Two siblings diagnosed with HoFH.
• Clinical features included xanthomas and corneal arcus.
• One sibling presented with symmetric subcutaneous lipomatosis, a previously unreported association with HoFH.

Conclusions:

• HoFH diagnosis in young siblings from Egypt.
• The presence of lipomatosis expands the known clinical manifestations of HoFH.
• Highlights the importance of recognizing diverse presentations of rare genetic disorders.