Autosomal recessive hypercholesterolemia and bilio-pancreatic diversion: A case report

SummaryFamilial hypercholesterolemia (FH) is typically an autosomal dominant disorder but a rare variant, autosomal recessive FH (ARH) does also exist. The most serious symptom is sudden death, myocardial infarction, or angina due to atherosclerotic coronary artery disease. Therefore, treatment of ARH is aimed to alter the course of disease before the onset of CAD. Multiple treatment options available varying from life style modification to organ replacement with favourable outcome. We report a case of autosomal recessive hypercholesterolemia (ARH) who was treated with bilio-pancreatic diversion (BPD) with satisfying results.