Catalina MosnaHospital de la Asociación Médica, Argentina
Title: Fabry disease: A case report
Fabry disease is a lysosomal storage disorder caused by a deficiency of alpha-galactosidase (?-Gal A). It is considered a rare condition due to its low frequency (incidence of approximately 1:117 000 live male births); in Bahía Blanca, Argentina there have been no records of patients affected in the last 20 years.
A 28-year-old man presented to hospital in July 2019 with skin angiokeratomas. He also reported other symptoms such as polyarthralgia and paresthesia in the upper and lower limbs, anhidrosis, exhaustion, and nonspecific digestive symptoms since the age of 9 years. His previous medical consultations were inconclusive. Due to the suspicion of lysosomal storage disease (Fabry disease), diagnostic studies were performed, which revealed deficient levels of ?-Gal A. Further evaluation showed cardiac and renal involvement so systemic enzyme replacement therapy with agalsidase alfa was initiated.
Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of ?-Gal A leading to an accumulation of glycosphingolipids in the lysosomes of the cells of different organs (such as the skin, heart, or kidneys). The classic phenotype is associated with early onset of symptoms (during childhood or adolescence), followed by a progressive multiorgan failure. Clinical manifestations include neuropathic pain and episodic severe pain crises, hypohidrosis, skin abnormalities (angiokeratomas), gastrointestinal disturbances, and a characteristic asymptomatic corneal opacity. Kidney injury findings are generally albuminuria and glomerulosclerosis. In male patients, the ?-Gal A activity testing is a standard diagnostic tool; however, confirmation of the disease-causing GLA gene mutation is important to establish the phenotype of the disease and rule out benign polymorphisms. It also allows the testing of at-risk family members. The management of Fabry disease includes enzyme replacement therapy by intravenous infusion; it is available in the form of agalsidase alfa and agalsidase beta. Adjunctive therapies aimed to treat symptoms of tissue injury and its progression are also important. The assessment of patients with Fabry disease should involve a multidisciplinary care team to assist in the management of organ-specific complications.
Catalina Mosna is a specialist in Internal Medicine and is doing a second specialization in nephrology, in Bahia Blanca, Argentina. She is working in two Dialysis Centers and a Public Hospital in her town and is the referring doctor of a family with Fabry’s Disease (the first patients diagnosed in Bahía Blanca).