A Case of Type Iia Homozygous Familial Hypercholestrolemia with Cutaneous Xanthomas
نویسندگان
چکیده
Familial Hypercholestrolemia (FH) is characterized by presence of various types of cutaneous xanthomas with a deranged lipid profile. An 8 year old non-obese girl presented with multiple planes, tuberous and tendinous xanthomas and had associated abnormal lipid profile with elevated LDL cholesterol levels.
منابع مشابه
Homozygous familial hypercholesterolemia: Case report and review of literature
Familial hypercholesterolemia (FH) is a genetic disease presented by high levels of serum low density lipoprotein (LDL), xanthomas and early coronary artery disease (CAD). The diagnosis of Homozygous Familial Hypercholesterolemia (HoFH) is based on a family history of elevated cholesterol, persistent high LDL levels despite maximum medical treatment and the development of xanthomas and early at...
متن کاملHomozygous Familial Hypercholesterolemia: Case Series and Review of the Literature
Introduction. Familial hypercholesterolemia (FH) is caused by nonfunctioning low-density lipoprotein (LDL) receptors, resulting in high serum cholesterol. Two types of FH are described: the heterozygous form is diagnosed in adults and responds well to medical therapy; the homozygous form is rare, diagnosed in children, and often requires multiple treatments to prevent complications. Cholesterol...
متن کاملClinical outcome of patients with familial hypercholesterolemia and coronary artery disease undergoing partial ileal bypass surgery.
Familial hypercholesterolemia is characterized by high serum levels of total cholesterol and LDL-cholesterol. It may be homozygous or heterozygous. In homozygous patients, LDL-cholesterol levels range from 500 to 1000 mg/dL and coronary artery disease is precocious, usually manifesting itself between the 2nd and 3rd decades of life. The diagnosis is often made by the presence of xanthoma tubero...
متن کاملCutaneous Manifestations of Fanconi's Anemia in Two Siblings
1. Babu R, Venkataram A, Santhosh S, Shivaswamy S. Giant Tuberous Xanthomas in a Case of Type IIA Hypercholesterolemia. J Cutan Aesthet Surg 2012;5:204‐6. 2. Jain KS, Kathiravan MK, Somani RS, Shishoo CJ. The biology and chemistry of hyperlipidemia. Bioorg Med Chem 2007;15:4674‐99. 3. Van Aalst‐Cohen ES, Jansen AC, de Jongh S, de Sauvage Nolting PR, Kastelein JJ. Clinical, diagnostic, and thera...
متن کاملPhakomatosis pigmentovascularis type IIa
Phakomatosis Pigmentovascularis (PPV) is a rare cutaneous congenital malformation syndrome, defined as simultaneous occurrence of congenital cutaneous vascular and pigmentary anomalies. As most of the reported cases are from Far East countries, especially Japan, we reported a case of PPV type IIa in an Iranian patient. This case was unusual because of the coexistence of unilateral extensive por...
متن کامل