WORLD JOURNAL OF ADVANCE
HEALTHCARE RESEARCH

*Dr. Ibrahim Asi Ali Al Sabawi and Dr. Safana Yaman Wageeh

ABSTRACT

Fabry disease is caused by hereditary deficiency of the enzyme α galactosidase A (α-Gal A), resulting in theintracellular accumulation of neutral glycosphingolipids with terminal α-linked galactosyl moieties. Clinically,this leads to progressive CKD, pain crises, sweating abnormalities, vascular cutaneous lesions, and cardiac andeye abnormalities. Enzyme replacement therapy stabilizes and slow progression of Fabry disease, with morebenefit when started at an early age. We report a 32y old Asian Iraqi male who came to out-clinic as potentialkidney transplant Donor for his 34 y old brother who has end stage kidney disease of unknown etiology. Thedonor and during routine investigation discovered to have mild left ventricular hypertrophy by echo study whichwas unexplained, the patient only mentioned intermittent chest pain heavy in nature occur with activity, otherinvestigations was normal, a genetic screening of him and his brother came with fabry disease, genetic screeningof other siblings discovered another affected brother and two carriers female, fabrazyme was started to all affectedmales regardless of the symptoms and a complete resolution of left ventricular hypertrophy after 8 months wasachieved, this case report points to the importance of early diagnosis and treatment of Fabry disease relatedcomplications.