SAT-251 Massive Tissue Deposition Of Cholesterol Leading To Multi-organ Failure In Cholestatic Hypercholesterolemia

Abstract Disclosure: D.R. Barros: None. B.G. Ballios: None. Y. Patoida: None. S. Singer: None. C.F. Rosen: None. M.A. Seidman: None. R.A. Hegele: None. G.F. Lewis: None. Background: Cholestasis-induced severe hypercholesterolemia can result in various complications, including xanthomas, although atherosclerosis is not a consistent feature. However, deposition of lipids in organs beyond the skin and tendons secondary to hepatobiliary dysfunction, to the point of eliciting organ dysfunction or failure, has not previously been reported. Case Presentations: Here we present two cases of marked hypercholesterolemia resulting from hepatobiliary disease. Patient 1 presented at a later stage of disease progression, with markedly elevated plasma cholesterol at 62.2 mmol/L (N<5.2 mmol/L) and triglycerides at 3.83 mmol/L (N<1.7 mmol/L). Massive cholesterol deposition in his retinas led to profound vision loss, while myocardium and kidney lipid infiltration ultimately resulted in fatal cardiorenal failure. Patient 2 presented with a lesser degree of hypercholesterolemia, with plasma cholesterol at 18.4 mmol/L. He was noted to have retinal cholesterol deposition without vision loss, along with extensive pruritic and painful tuberoeruptive xanthomas. Management and Outcome: Both patients were treated with weekly or biweekly plasmapheresis to prevent further disease progression, which successfully lowered plasma cholesterol to 6.92 and 5.88 mmol/L in patients 1 and 2, respectively. The multi-organ lipid deposition of patient 1 proved to be irremediable despite plasma exchange therapy. In contrast, six months of biweekly plasmapheresis in patient 2 yielded marked resolution of xanthomas and halted progression of retinal disease and vision loss. These cases reveal previously unappreciated non-atherosclerotic clinical consequences of severe hypercholesterolemia secondary to cholestatic liver disease, which can be ameliorated if detected early and treated with serial plasma exchange. Presentation: Saturday, July 12, 2025