Homozygous Familial Hypercholesterolemia and severe involvement of aortic valve and aortic root- a case report of a 10-year old boy

Homozygous Familial Hypercholesterolemia (HFH) is a rare lipoprotein Disorder. Transmission is autosomal codominant. The prevalence of (HFH) is estimated at approximately 1:1000,000. Aortic root and valve leaflets become atherosclerotic and thick due to cholesterol deposition and then aortic insufficiency and stenosis appears which sometimes may be severe. We report a10 year-old boy with multiple Cutaneous and tendinous xanthomata, exertional angina from age 8 and severe atherosclerotic involvement of aortic valve and aortic root who was referred from one of villages of Birjand. Considering that 70% of the reported cases with aortic involvement have relatively mild aortic stenosis, our case is one of less frequent ones. His plasma total cholesterol was 766, LDL cholesterol was 658 mg/dl, Triglyceride 150 and HDL was 46 mg/dl. Diagnosis was confirmed by typical skin and tendon lesions, including typial yellowish orange skin xanthomas, achili xanthomas, corneal arcus and the typical type IIa Fredrickson dyslipoproteinemia, and echocardiographic changes of aortic valve and root. Considering very few reports in this regard in our country, and a relatively high prevalence of the disorder in nearby countries, such case reports may improve our knowledge and also help to find and treat many families of such patients with heterozygous FH who have not got pathognomonic skin or tendon lesions.