Familial Hypercholesterolemia with Tendinous Xanthomas and Achilles Tendinitis – A Forgotten Dermato-Rheumatologic Association

Abstract

Abstract Familial hypercholesterolemia (FH) is a disorder of lipoprotein metabolism with dermatological and rhematological manifestations. Tendinous xanthomata (TX) are a hallmark of this disease. They are associated with recurrent tendinitis and tendon damage, an aspect of the clinical presentation, which is not well-known among dermatologists. We report two cases of heterozygous familial hypercholesterolemia, where the patients started developing tendinous xanthomata early in their life, with progressive increase in the number and size of lesions. However, they presented late, only when the recurrent attacks of tendinitis became severe. We present these cases to highlight the rheumatologic features, which may be the first symptom of heterozygous familial hypercholesterolemia.