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

Streszczenie

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.