Homozygous Familial Hypercholesterolemia with Generalized Arterial Disease

Abstract

Objective: This report describes the clinical features and management of an 11-year-old boy with end-stage homozygous familial hypercholesterolemia (hoFH) and generalized arterial disease. Clinical Presentation and Intervention: The patient presented with recurrent anginal episodes. On examination, he was found to have multiple planar and tendinous xanthomas, an (LDL) cholesterol level of 24.6 mmol/l and family history of hypercholesterolemia. Resting electrocardiogram showed ST depression in the anterior and inferior leads. Coronary angiogram outlined 70% stenosis of the left main coronary, ostial stenosis of the right coronary artery and extensive atherosclerotic disease of the aorta and all its major branches. The lipid profile was grossly abnormal, but the other biochemical and hematological parameters were normal. The patient was managed with metoprolol 12.5 mg twice daily, nitroglycerin infusion, antithrombotics (aspirin 75 mg once daily and heparin infusion 150 units per hour), cholesterol-lowering drugs (simvastatin 10 mg once a day, cholestyramine 4 g twice a day) and analgesics. Conclusion: This case report emphasizes the need to diagnose early familial hypercholesterolemia in families with heart disease and the need to test the partners of affected persons so that the risk of conceiving children with hoFH can be counseled.

Multiple large xanthomas: A case report

“…The first step for the treatment of HoFH is a change in lifestyle and diet regulation. The diet of HoFH patients must be low in saturated fats and cholesterol (8,25). Combined drug therapy, including statins plus ezetimibe or bile acid resin, is recommended for patients with severe hypercholesterolemia (1,26).…”

Young Fatal Case of Familial Hypercholesterolemia: A Case Report

“…The main cause of FH is LDL receptor abnormalities that decrease the uptake of LDL into cells, particularly into the liver cells, from the blood, resulting in the increase of serum LDLcholesterol levels [1]. The incidence of homozygous FH (HoFH) is very low (1 in million people).…”

Homozygous Familial Hypercholesterolemia: Case report and Review of Literature

“…The main cause of FH is LDL receptor abnormalities that decrease the uptake of LDL into cells, particularly into the liver cells, from the blood, resulting in the increase of serum LDL-cholesterol levels. 1 The incidence of homozygous FH (HoFH) is very low (1 in million people). However, heterozygous FH occurs in 1of 500 people, and is frequently detected by routine medical health check-up.…”