cbr25_1p049f3

Clinical manifestations of FH: Top left panel: arcus cornealis is a thin white crescentic line due to cholesterol deposition, typically on the lower aspect of the cornea. Top right panel: thickening of the Achilles tendons above the heels due to xanthoma formation. Bottom left panel: the tendons of the middle and ring fingers of this hand have visible thickening due to xanthoma formation adjacent to the knuckles and there are two small xanthomas in the skin. Bottom right panel: skin xanthomata on the hands of a child with homozygous FH, the planar xanthomata on the webs between the fingers being highly specific for this condition. Tendon xanthomata appear later. | Marais A. D. (2004). Familial hypercholesterolaemia. The Clinical biochemist. Reviews, 25(1), 49–68.

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