Delayed diagnosis of familial hypercholesterolemia: A case report of two patients from Egypt

►Two cases of homozygous familial hyperlipidemia from Egypt are reported.►Severe aortic stenosis was found in case 1, and premature coronary artery disease was found in both.►The delayed diagnosis resulted in death of case 1 and forearm amputation for case 2.►Early management can prevent premature atherosclerotic vascular disease and deaths.

Two young Egyptian women with homozygous familial hypercholesterolemia (HoFH) were diagnosed after the appearance of vascular complications despite the presence of family history and suggestive clinical features. The first patient was treated by repeated surgical excisions of disfiguring tendon xanthomas diagnosed as “lipomas”. The second patient, presenting with embolic ischemia, had an amputation of the forearm and repeated reconstructive surgical procedures. Each patient was diagnosed as HoFH after presenting with typical angina to a cardiologist. The first patient had severe aortic stenosis, left main and multi-vessel coronary artery disease, and died at age 21 years. The second patient had multivessel coronary artery disease that was treated by Percutaneous Coronary Intervention (PCI) with drug-eluting stents. These cases demonstrate that the delayed diagnosis of xanthomas and familial inheritance characteristic of HoFH leads to atherosclerosis and aortic stenosis early in life.