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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease hypercholesterolemia, familial
Comorbidity C1704436|peripheral arterial diseases
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PubMedID- 21191428 The values in children may vary, but hypercholesterolemia usually lead to atherosclerotic changes in coronary arteries, as well as formation of tendon xanthomas.1 familial hypercholesterolemia is also associated with increased peripheral arterial diseases, as well as increased thickness of intima media of femoral and carotid arteries, although reviews have shown that more evidence is needed to link a conclusive association between this disease and risk of stroke.8 tendon xanthomas that are caused by deposition of high cholesterol in tendons and skin are seen in elbows, knees, achilles tendon, hands, and other parts of the body (figures 1 and 2).

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