Fabry's Disease: A Case series report of a Libyan family

Abstract

Introduction Fabry's disease (FD) is a rare disorder due to the very low residual function of alpha galactosidase enzyme causing chronic kidney disease (CKD), with the incidence of 1/40,000 males. Heterozygous females may be asymptomatic. We hereby report a patient having CKD and other clinical findings like, dermatological, neurological and cardiological manifestations and pedigree analysis were strongly suggest the diagnosis of Fabry Disease. Case Presentation: A 40-year-old man with high renal profile the patient is normotensive, non-diabetic, in 2013 had history of left ophthalmoplegia which resulted from acute ischemia in midbrain, in 2014 had bilateral sensory neural hearing loss. In 2019 was noticed that he had a skin rash in a “bathing-trunk” distribution, they are small angiomas, by physical examination patient looks pale, he has mild pedal edema, CNS examination showed 7th, 8th and 9th cranial nerve palsy, his investigations showed raised s. creatinine 3.2 mg/dl, Urine protein++, eGFR 22.4/min/1.73m2. Ultrasound abdomen showed small kidneys and echocardiography showed LVH. A pedigree analysis showed recipient was third in birth order and has two brothers a known case of CKD on regular hemodialysis, The CKD of the brothers was a result of Fabry Disease, was evaluated for a-galactosidase activity which was found markedly decreased (12.10; normal enzyme activity level >60). According to clinical manifestations and strong family history of FD, Conclusion & Recommendations: This case report highlights the importance of careful evaluation of cases of CKD due to unusual causes, particularly when there's positive family history, in order to avoid misdiagnosis and also for early and proper therapy.