Homozygous Familial Hypercholesterolemia: Case Series and Review of the Literature

Abstract

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 accumulation in tissues produces common clinical manifestations including cutaneous xanthomas, coronary artery disease, and aortic stenosis. Treatment options consist of lifestyle modifications, lipid-lowering medications, LDL aphaeresis, and orthotopic liver transplantation (OLT). Case Presentation. Two patients with FH presented at young ages due to characteristic cutaneous xanthomas. The patients underwent cardiac testing that revealed atherosclerotic changes. The patients received maximal medical therapy, but only experienced a small decrease in serum cholesterol and LDL levels. After several years of medical treatment without improvement of symptoms, the patients were listed for OLT. The transplantations were successful, and only one patient had a postoperative complication of acute rejection, treated successfully. Currently, both patients are doing well with regression of the cutaneous xanthomas and atherosclerotic changes. Conclusion. OLT is a safe and effective option for patients with homozygous FH refractory to maximal medical therapy and may represent the optimal treatment for these patients.

The Agenda for Familial Hypercholesterolemia

“…In patients with advanced cardiac disease, combined heart/liver transplantation has been performed. [179][180][181] …”

Microsomal Transfer Protein Inhibitors, New Approach for Treatment of Familial Hypercholesterolemia, Review of the Literature, Original Findings, and Clinical Significance

“…Familial hypercholesterolemia is a common autosomal dominantly inherited disorder characterized by elevated plasma LDL cholesterol concentration leading to cholesterol deposits in the corneas, eyelids, and extensor tendons, rapidly progressing vascular disease, and aortic valve disease [11].…”

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“…15 The major complication of familial hypercholesterolemia is that hypercholesterolemia leads to premature atherosclerosis, with early death from cardiovascular complications (eg, aortic valve disease, coronary artery disease). The other manifestation of familial hypercholesterolemia is cutaneous xanthomas, which is especially found on the elbows, hands, knees, and Achilles tendon.…”

“…16 The definitive treatment of familial hypercholesterolemia is liver transplant. [15][16][17] In our institution, orthotopic liver transplants were performed in 4 patients (aged 11, 12, 19, and 19 y) for familial hypercholesterolemia. Before orthotopic liver transplant, aortic valve replacement was performed in 2 patients and coronary artery stenting was performed in 1 patient.…”