Naslov
Digital clubbing in hereditary hemorrhagic telangiectasia/juvenile polyposis syndrome

Autori
Mrzljak, Anna ; Popić, Jelena ; Ožanić Bulić, Suzana

Izvornik
Acta Dermatovenerologica Croatica (1330-027X) 29 (2021), 1; 56-57

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, pismo uredniku, stručni

Ključne riječi
digital clubbing ; hereditary hemorrhagic telangiectasia ; juvenile polyposis syndrome

Sažetak
Hereditary hemorrhagic telangiectasia (HHT) (Osler-Weber-Rendu Syndrome) is a rare autosomal dominant vascular disorder characterized by the presence of multiple arteriovenous malformations (AVMs) and recurrent bleeding episodes. The diagnosis is based on the Curacao criteria: (i) spontaneous recurrent epistaxis, (ii) mucocutaneous telangiectasia, (iii) AVMs of visceral organs, and (iv) first degree relatives with a similar condition. Due to a common genetic pathway and SMAD4 gene mutation, juvenile polyposis syndrome (JPS) may coexist with HHT. The disease burden is high in overlapping HHT/JPS, but digital clubbing may be the only physical finding. Continuous meticulous management may improve the quality of life and reduce the risk of complications.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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