Clinical Snapshot
Treatment-Refractory Hypercholesterolemia in a Child
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A 9-year-old girl was referred for a diagnostic evaluation of hypercholesterolemia. On physical examination, xanthomas and corneal arcus were striking (Figure). Laboratory tests revealed significantly elevated levels of total cholesterol (471 mg/dL) and LDL cholesterol (414 mg/dL). Statins (pravastatin 20 mg) failed to lower cholesterol levels. Genetic testing for familial hypercholesterolemia was normal. Extended genetic testing revealed the presence of a homozygous mutation in the ABCG8 gene (c.2T, p.?, loss of the translational start codon of ABCG8 mRNA), consistent with sitosterolemia. This is characterized by a massive increase in plant sterols in the blood and increased cholesterol absorption. The patient’s sterol determination revealed strongly elevated levels of campesterol (1368 µmol/L, reference <20 µmol/L) and sitosterol (576 µmol/L, reference <9 µmol/L), thereby confirming the diagnosis. Following a treatment switch to the cholesterol absorption inhibitor ezetimibe (10 mg daily) and dietary reduction of plant sterols, phytosterol levels decreased (campesterol 360 µmol/L, sitosterol 227 µmol/L) and LDL cholesterol normalized to 76 mg/dL.
Prof. Dr. med. Clemens Kamrath, Zentrum für Kinderheilkunde und Jugendmedizin, Allgemeine Pädiatrie und Neonatologie, Universitätsklinikum Gießen und Marburg GmbH, Standort Gießen, clemens.kamrath@paediat.med.uni-giessen.de
Prof. Dr. rer. nat. Hubert Scharnagl, Klinisches Institut für Medizinische und Chemische Labordiagnostik, Medizinische Universität Graz
Prof. Dr. Winfried März, SYNLAB Holding Deutschland GmbH, Augsburg, Medizinische Fakultät Mannheim, Universität Heidelberg
Conflict of interest statement: The authors declare that no conflict of interest exists.
Translated from the original German by Christine Rye.
Cite this as: Kamrath C, Scharnagl H, März W: Treatment-refractory hypercholesterolemia in a child. Dtsch Arztebl Int 2023; 120: 517. DOI: 10.3238/arztebl.m2022.0382
