Schmidt, Hartmut H-J. and Tietge, Uwe J. F. and Buettner, Janine and Barg-Hock, Hannelore and Offner, Gisela and Schweitzer, Susanne and Dedoussis, Giorgos V. and Rodeck, Burkhard and Kallfelz, Hans C. and Schlitt, Hans-Juergen and Oldhafer, Karl and Klempnauer, Juergen (2008) Liver transplantation in a subject with familial hypercholesterolemia carrying the homozygous p.W577R LDL-receptor gene mutation. CLINICAL TRANSPLANTATION, 22 (2). pp. 180-184. ISSN 0902-0063, 1399-0012
Full text not available from this repository. (Request a copy)Abstract
Mutations within the low density lipoprotein (LDL)-receptor gene result in familial hypercholesterolemia, an autosomal dominant inherited disease. Clinical homozygous affected subjects die of premature coronary artery disease as early as in early childhood. We identified a girl at the age of five yr with clinical homozygous familial hypercholesterolemia presenting with achilles tendon xanthomas and arcus lipoides. Her total cholesterol reached up to 1050 mg/dL. Molecular characterization of the LDL-receptor gene revealed a homozygous p.W577R mutation. Despite intensive treatment interventions with the combination of diet, statins, colestipol, and LDL-apheresis, the patient developed symptomatic coronary artery disease at the age of 16 yr. Subsequently, orthotopic liver transplantation was performed to cure the defective LDL-receptor gene. Clinical follow-up for almost nine yr post-transplantation revealed excellent liver function, normal liver enzymes, normal LDL-cholesterol, and regression of both tendon xanthomas and symptomatic coronary artery disease. In conclusion, liver transplantation can effectively reduce LDL-cholesterol in a familial hypercholesterolemia recipient with subsequent regression of xanthomas and atherosclerosis. Timing is extremely important in these exceptional cases to exclude the demand for heart transplantation due to severe coronary artery disease. In addition, the identification of the LDL-receptor as etiology of clinical homozygous hypercholesterolemia is a prerequisite once liver transplantation is considered as therapeutic option.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | DEFICIENT RABBITS; PLASMA-EXCHANGE; CHOLESTEROL; LIPOPROTEIN; THERAPY; HEPATOCYTES; PATIENT; CHILD; familial hypercholesterolemia; gene therapy; LDL receptor gene; transplantation |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Chirurgie |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 05 Nov 2020 13:14 |
| Last Modified: | 05 Nov 2020 13:14 |
| URI: | https://pred.uni-regensburg.de/id/eprint/31221 |
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