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Management of a Patient With a Null Low-Density Lipoprotein Receptor Mutation

A Case Report

1st Cardiology Department, Athens, Greece, genkolovou{at}mail.gr

George V.Z. Dedoussis, PhD

Laboratory of Molecular Genetics, Department of Science of Nutrition and Dietetics, Harokopio University, Athens, Greece

Katherine K. Anagnostopoulou, BSc, MSc

1st Cardiology Department, Athens, Greece

George Ch. Hatzigeorgiou, MD

1st Cardiology Department, Athens, Greece

Klelia D. Salpea, BSc

1st Cardiology Department, Athens, Greece

Despoina M. Choumerianou, PhD

Laboratory of Molecular Genetics, Department of Science of Nutrition and Dietetics, Harokopio University, Athens, Greece

Spyridon Rammos, MD, PhD

Pediatric Cardiology Department, Onassis Cardiac Surgery Center, Athens, Greece

Dimitri P. Mikhailidis, MD

Department of Clinical Biochemistry, Vascular Disease Prevention Clinics, Royal Free Hospital, Royal Free and University College Medical School, London, United Kingdom

Dennis V. Cokkinos, MD

1st Cardiology Department, Athens, Greece

A 13-year-old Greek boy with severe dyslipidemia, large tuberous xanthomas over the knees and elbows, Achilles’ tendon xanthomas, and a bilateral corneal arcus was referred to the Lipid Clinic. He had a supravalvular aortic stenosis, 50% to 60% stenosis of both carotid arteries, and normal coronary arteries. Familial hypercholesterolemia was clinically diagnosed. A V408M null low-density lipoprotein receptor (LDLR) mutation was identified in homozygosity. He responded to lipid-lowering drugs by decreasing total cholesterol by 32%, low-density lipoprotein cholesterol by 33%, and triglyceride levels by 30%. Additional treatment with low-density lipoprotein-apheresis further decreased total cholesterol by 52%, low-density lipoprotein cholesterol by 55%, and triglycerides by 43%. Low-density lipoprotein cholesterol levels between apheresis sessions showed a declining pattern. A significant regression of tuberous xanthomas was noted. A suitable combination of lipid-lowering drugs is effective even in this case of homozygosity for a null LDLR mutation. Furthermore, the coadministration of statins, cholestyramine, and ezetimibe during low-density lipoprotein-apheresis tends to counterbalance the postapheresis relapse in low-density lipoprotein cholesterol levels.

Angiology, Vol. 57, No. 6, 729-732 (2007)
DOI: 10.1177/0003319706294421


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