Tendon xanthomas (TX) are pathognomonic lipid deposits commonly found in familial hypercholesterolemia (FH) patients. TX frequency increased with age from 6.9% in subjects 20 to 30 years to 38.3% at 51 to 60 years, with a decrease in those older than …
Tendon xanthoma are most commonly associated with Familial Hypercholesterolemia, but the differential diagnosis includes sitosterolemia and cerebrotendinous xanthomatosis (CTX). They are rarely seen in general practice but are pathognomonic for FH. Physical exam findings that suggest familial hypercholesterolemia Tendon xanthomas (a), a thickening of the soft tissue as a result of infiltration by lipid-rich cells, most commonly occur at the achilles and metacarpal tendons, but also can be seen at the patellar and triceps tendons. Introduction. CTX is a rare, recessive disorder caused by mutations in the CYP27A1 gene. Their presence is a clinical sign of familial hypercholesterolaemia (FH, OMIM # 143890), an inherited disorder characterized by high low-density lipoprotein (LDL) cholesterol levels and premature cardiovascular disease (CVD). Tendon xanthomas are white or yellow lumps of cholesterol deposits found around knuckles or Achilles tendons (Figures 1A, 1B).
Objective— To investigate the significance of tendon xanthomas (TX) in heterozygous subjects with familial hypercholesterolemia (hFH). Jump to Content Jump to Main Navigation. 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. Corneal arcus is a circular deposit of lipid material at the edge of the cornea (Figure 1C). Tendon xanthomas are cholesterol deposits in tendons. in Individuals With Heterozygous Familial Hypercholesterolemia: A Pilot Study Carolina L.Z. In young people aged <45 years, 2 it is suggestive of FH. Familial hypercholesterolemia (FH) is a genetic disorder of lipoprotein metabolism characterized by very high plasma concentrations of low-density lipoprotein (LDL) cholesterol, deposition of cholesterol in extravascular tissues, such as tendon xanthomas (TX), and increased risk of premature coronary heart disease (CHD). Methods and Results— 951 men and women with genetic diagnosis of hFH were studied, of whom 278 (29.2%) presented TX. Home About us Subject Areas Contacts About us Subject Areas Contacts The case presented here is of a 48-year old male with large tendon xanthomas attributable to CTX.