<abstract xmlns="http://www.w3.org/1999/xhtml"><p>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.</p></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.

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

Serbian Journal of Dermatology and Venereology

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

Familial hypercholesterolemia (FH) is a disorder of lipoprotein metabolism with dermatological and rhematological manifestations. Tendinous xanthomata (TX) are...

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

Pubblicato online: 12 nov 2019

Pagine: 25 - 29

Ricevuto: 24 mar 2019

Accettato: 29 apr 2019

DOI: https://doi.org/10.2478/sjdv-2019-0004

Parole chiave
Hyperlipoproteinemia Type II, Xanthomatosis, Achilles Tendon, Heterozygote, Genetic Predisposition to Disease, Rheumatic Diseases

© 2019 Puspanjuli Sahu et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

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

Pubblicato online: 12 nov 2019

Pagine: 25 - 29

Ricevuto: 24 mar 2019

Accettato: 29 apr 2019

DOI: https://doi.org/10.2478/sjdv-2019-0004

Parole chiaveHyperlipoproteinemia Type II, Xanthomatosis, Achilles Tendon, Heterozygote, Genetic Predisposition to Disease, Rheumatic Diseases

© 2019 Puspanjuli Sahu et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

Parole chiave
Hyperlipoproteinemia Type II, Xanthomatosis, Achilles Tendon, Heterozygote, Genetic Predisposition to Disease, Rheumatic Diseases