Clinical outcome of patients with familial hypercholesterolemia and coronary artery disease undergoing partial ileal bypass surgery

Abstract

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 tuberosum and tendinous xanthomas that appear between the 1st and 2nd decades of life. The use of high doses of statins or even unusual procedures (apheresis, partial ileal bypass surgery, liver transplantation, gene therapy), or both, is necessary for increasing survival and improving quality of life, because a reduction in cholesterol levels is essential for stabilizing the coronary artery disease and reducing xanthomas. We report our experience with 3 patients with xanthomatous familial hypercholesterolemia and coronary artery disease, who underwent partial ileal bypass surgery. Their follow-up over the years (approximately 8 years) showed a mean 30% reduction in total cholesterol, with a significant reduction in the xanthomas and stabilization of the coronary artery disease.

Familial Hypercholesterolemia: New Horizons for Diagnosis and Effective Management

“…and high cholesterol levels showed positive results in CHD-associated mortality when diet plus partial ileal bypass was compared to diet alone (Buchwald et al, 1998 ). In addition, the 8-year follow up after partial ileal bypass in three FH patients with xanthomas and CAD showed a 30% reduction in cholesterol and significant change in xanthomas, as well as CAD stabilization (Issa et al, 2000 ). Thus, partial ileal bypass appears an effective treatment option for FH patients, but more long-term studies are also needed to clarify its safety (Moghadasian et al, 2001 ).…”

Statins in homozygous familial hypercholesterolemia

“…Partial ileal bypass can decrease total cholesterol by 30% [19]. Though attractive as a mechanism of replacing the defective genes, liver transplantation does not necessarily have as good a long-term outcome as plasmapheresis.…”