Most males carrying the Fabry disease gene are affected with classical Fabry disease. Males with classical Fabry disease generally have less than 1% of the enzyme needed to carry out the normal metabolic processes in the body that prevent lipid accumulation and the resulting damage to tissues and organs. While at varying degrees of intensity, severity and age of onset, most untreated males will experience most or all of the common symptoms of Fabry disease over time.
According to studies, the average life-span for a male with classical Fabry disease was about 41 years old prior to the availability of kidney dialysis, kidney transplants or enzyme replacement therapy. Fortunately, early management and treatment with Enzyme Replacement Therapy has potential to allow individuals to avoid most of the diminished quality of life and life threatening consequences of this disease. At the same time, because of the delay in both diagnosis and subsequent treatment for Fabry disease, most of the Fabry disease population is still either unaware they have Fabry disease or they began treatment too late to avoid irreversible damage to some affected tissues and organs. This situation seems to be improving slowly with earlier diagnosis but a great deal of education, awareness and action is still needed.
Because all males carrying the Fabry gene that have classical Fabry disease will suffer the damaging effects of lipid (GL-3) accumulation in most cells in the body, the treatment recommendations for men are more straightforward for males with Fabry disease than for females and children.
The information about males below is extracted from the Genetics in Medicine article (September 2006, Vol 8, No 9) entitled Fabry disease: Guidelines for the evaluation and management of multi-system involvement. (link below):
"Current guidelines for instituting enzyme replacement therapy in Fabry disease patients: Adult males (16 years or older) should receive ERT at time of diagnosis of Fabry disease. Pediatric males should be given ERT at the development of significant symptoms, or if asymptomatic, consider at 10-13 years."
"Males with classical Fabry disease develop early symptoms including pain and hypohidrosis by the second decade of life reflecting disease progression in the peripheral and autonomic nervous systems. An insidious cascade of disease processes ultimately results in severe renal, cardiac, and central nervous system complications in adulthood. The late complications are the main cause of late morbidity, as well as premature mortality."
"In one study, onset of symptoms occurred earlier in males (mean age 10.9 years) than in females (22.6 years). The mean delay between first symptoms and diagnosis was 13.7 years for males and 16.3 years for affected women."
"Typically, reduced Gomerular Filtration Rate (GFR) and proteinuria associated with GL-3 accumulation develop during the third decade in affected males."
"Onset of Central Nervous System symptoms has been shown to occur earlier in males (age 34) than in females (age 40)."
"One study documented self-reported hearing loss in 41% of 98 male Fabry patients. An abnormal audiogram was obtained in 78% of these patients. Study of cochlear function including conventional audiometry, tympanometry, auditory brainstem response (ABR) audiometry, and otoacoustic emissions in 22 male patients disclosed a high prevalence of progressive hearing loss, both of sensorineural origin (23%) and sudden deafness (32%), as well as tinnitus aurium (27%)."
"Gastrointestinal symptoms may include postprandial abdominal pain and bloating followed by multiple bowel movements and chronic or intermittent diarrhea, nausea, vomiting and early satiety. Many affected males have difficulty gaining weight and are in general smaller in height and weight than their unaffected siblings. The symptoms typically begin in adolescence, sometimes before the age of 10 and often as a primary symptom. Generally, [GI] symptoms are more frequent and appear earlier among males."
"Based on current knowledge, every male Fabry patient should be offered ERT, irrespective of the stage of Chronic Kidney Disease."
