open access

Vol 15, No 2 (2020)
Case Reports
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Fabry disease — a long way to diagnosis in a 43-year-old patient. “Dr Google” is not always so bad…

Agnieszka Ciba-Stemplewska, Dorota Krzos, Beata Wożakowska-Kapłon
Folia Cardiologica 2020;15(2):173-175.

open access

Vol 15, No 2 (2020)
Case Reports

Abstract

Fabry disease (FD) is a rare genetic disease that leads to the accumulation of sphingolipids in cells due to the lack or deficiency of the alpha-galactosidase (alpha-GAL), lysosomal enzyme. It presents a lot of difficulties, despite typical pattern of symptoms.The drug program for patients with Fabry disease, which is avaiable in Poland is an enzyme replacement therapy with proven effectiveness. Starting treatment at an early stage delay or eliminate the symptoms, while at severe disease leads to regression of myocardial hypertrophy. We report a case study of a patient who was diagnosed unsuccessfully for over three decades by doctors of many specialities. Diagnosis, thanks to the skin and cardiological manifestation, owes his persistence and Internet search engine.

Abstract

Fabry disease (FD) is a rare genetic disease that leads to the accumulation of sphingolipids in cells due to the lack or deficiency of the alpha-galactosidase (alpha-GAL), lysosomal enzyme. It presents a lot of difficulties, despite typical pattern of symptoms.The drug program for patients with Fabry disease, which is avaiable in Poland is an enzyme replacement therapy with proven effectiveness. Starting treatment at an early stage delay or eliminate the symptoms, while at severe disease leads to regression of myocardial hypertrophy. We report a case study of a patient who was diagnosed unsuccessfully for over three decades by doctors of many specialities. Diagnosis, thanks to the skin and cardiological manifestation, owes his persistence and Internet search engine.

Get Citation

Keywords

Fabry disease, cardiomyopathy, keratomas, paresthesia

About this article
Title

Fabry disease — a long way to diagnosis in a 43-year-old patient. “Dr Google” is not always so bad…

Journal

Folia Cardiologica

Issue

Vol 15, No 2 (2020)

Pages

173-175

Bibliographic record

Folia Cardiologica 2020;15(2):173-175.

Keywords

Fabry disease
cardiomyopathy
keratomas
paresthesia

Authors

Agnieszka Ciba-Stemplewska
Dorota Krzos
Beata Wożakowska-Kapłon

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