Fabry Disease: A Turkish Case with a Novel Mutation and Dermatological Manifestations

Year 2015, , 156 - 160, 09.10.2015

Neslihan Mungan Fatih Temiz Berna Yılmaz Mehmet Özbek Mehmet Karakaş Ali Topaloğlu Bilgin Yüksel

https://doi.org/10.17826/cutf.47675

Cited By: 1

Abstract

Fabry disease is a rare, X-linked disease, caused by the deficiency of lysosomal α-galactosidase. Clinical fetaures are; acroparesthesia, unexplained fever, hypohidrosis and angiokeratomas. Untreated cases die early from cardiac complications, renal insuffiency or stroke. Currently there is no cure for Fabry disease, enzyme replacement therapy is the only choice in this progressive disease. A 9-year-old boy admitted to the Dermatology Clinic with reddish papular skin lesions, joint pain and anhydrosis. Hystological examination of the skin biopsy revealed angiokeratoma. There was no renal dysfunction or proteinuria. Biochemical confirmation of Fabry disease was made by determining the deficient leukocyte α-galactosidase activity. Subsequently, the patient’s molecular analysis was identified a novel nonsense mutation c. 785G>T in the GLA gene. Enzyme replacement therapy with agalsidase beta was started. He is on enzyme replacement therapy for 8 years, significant improvement was obtained in severity and frequency of pain crisis and fatigue. We report this case to emphasize the importance of early diagnosis of Fabry disease restricted to dermatological findings, especially before renal and cardiac involvement occurs, while enzyme replacement therapy is now available. Also this patient is one of the first Fabry patients under enzyme replacement therapy in Turkey.

Keywords

Fabry disease, angiokeratoma, enzyme replacement therapy

Fabry Hastalığı: Yeni Bir Mutasyon ve Cilt Bulgulariyla Seyreden Bir Türk O

Abstract

Fabry hastalığı lizozomal α-galaktosidaz eksikliğine bağlı görülen, X’e bağlı kalıtılan nadir bir hastalıktır. Klinik bulgular; akroparestezi, açıklanamayan ateş, hipohidroz ve anjiyokeratomlardır. Tedavi edilmeyen vakalar erken kardiyak komplikasyonlar, renal yetmezlik veya inme nedeniyle kaybedilirler. Günümüzde Fabry hastalığı için kür bulunmamakla birlikte enzim replasman tedavisi, bu ilerleyici hastalık için tek seçenektir. 9 yaşındaki erkek olgu Dermatoloji kliniğine kırmızı papüler cilt lezyonları, eklem ağrısı ve anhidrozla başvurmuştur. Cilt biyopsisinin histolojik incelemesi anjiyokeratom ile uyumlu bulunmuştur. Renal disfonksiyon veya proteinüri saptanmadı. Fabry hastalığının biyokimyasal doğrulaması lökosit α-galaktosidaz eksikliğinin gösterilmesiyle yapıldı. Daha sonra da, hastanın moleküler incelemesiyle GLA geninde c. 785G>T tanımlanmamış mutasyonunu saptandı. 8 yıldır enzim replasman tedavisi altında izlenen hastanın halsizlik yakınmasında ve ağrı ataklarının ciddiyeti ve sıklığında belirgin iyileşme gözlendi. Bu hastayı, enzim replasman tedavisinin mümkün olduğu günümüzde, renal ve kardiyak bulgular ortaya çıkmadan sadece cilt bulguları varlığında konulan erken Fabry hastalığı tanısının önemini vurgulamak amacıyla sunduk. Ayrıca bu hasta Türkiye’de enzim replasman tedavisi uygulanan ilk olgulardan biridir.

Keywords

Fabry hastalığı, anjiyokeratom, enzim replasman tedavisi

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