کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
5615426 1405969 2016 14 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Tendon xanthomas: Not always familial hypercholesterolemia
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی کاردیولوژی و پزشکی قلب و عروق
پیش نمایش صفحه اول مقاله
Tendon xanthomas: Not always familial hypercholesterolemia
چکیده انگلیسی
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.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of Clinical Lipidology - Volume 10, Issue 5, September–October 2016, Pages 1262-1265
نویسندگان
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