Fabry Disease

Abstract

Fabry disease is a rare genetic disease involving a deficiency of an enzyme. A decrease in the enzyme activity leads to a selective suffering of specific anatomic and functional structures resulting in heteromorphic clinical signs that increase the difficulty of early diagnosis. Knowing and identifying the clinical signs suggestive for this disease makes it easier to initiate the methods needed for confirming this diagnosis. The introduction of enzyme replacement therapy from the onset, slows down the complications of the disease, improves the quality of life and reduces the emotional and mental burden caused by the clinical symptoms. The patient presented in the reported case received clinical explorations according to the data presented in the literature, confirming the diagnosis of Fabry disease, thus enabling to start the therapy as soon as possible and including the patient in the National Program for Fabry disease. Following enzyme replacement therapy, the clinical symptoms and the quality of life were improved. The emotional, mental and physical impact of this disease can be greatly reduced by knowing the clinical signs that allows for the diagnosis and early initiation of the treatment.

Keywords

• fabry disease
• diagnosis
• treatment