Tendon xanthomas: Not always familial hypercholesterolemia.
Tendon xanthoma are most commonly associated with Familial Hypercholesterolemia, but the differential diagnosis includes sitosterolemia and cerebrotendinous xanthomatosis (CTX). The case presented here is of a 48-year old male with large tendon xanthomas attributable to CTX. CTX is a rare, recessive disorder caused by mutations in the CYP27A1 gene. The resultant defect in bile acid synthesis leads to cholestanol deposition in different tissues in the body, including tendons. CTX is associated with neurologic symptoms and a reduced life expectancy. Treatment consists of bile acid supplementation in combination with a statin. When patients present with tendon xanthomas and FH is ruled out, clinicians should consider CTX as a possible diagnosis.
Department of Vascular Medicine, University Medical Center Utrecht, The Netherlands.
Charlotte
C
Koopal
Department of Vascular Medicine, University Medical Center Utrecht, The Netherlands.
Frank L J
FL
Visseren
Department of Chemical Pathology, University of Cape Town, South Africa.
A David
AD
Marais
Department of Vascular Medicine, University Medical Center Utrecht, The Netherlands.
Jan
J
Westerink
Department of Vascular Medicine, University Medical Center Utrecht, The Netherlands. Electronic address: W.Spiering@umcutrecht.nl.
Wilko
W
Spiering
D001921:Brain / Q000000981:diagnostic imaging; D053493:Cholestanetriol 26-Monooxygenase / Q000235:genetics; D003937:Diagnosis, Differential; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000150:complications / Q000175:diagnosis*; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D013710:Tendons / Q000473:pathology*; D014973:Xanthomatosis / Q000150:complications / Q000175:diagnosis*
C506831:CYP27A1 protein, human; D053493:Cholestanetriol 26-Monooxygenase
CYP27A1 mutation; Case report; Cerebrotendinous xanthomatosis; Differential diagnosis; Familial hypercholesterolemia; Genetics; Pathophysiology; Tendon xanthoma