Newborn screening initiatives have found an unexpectedly high prevalence of the disease, as high as one in about 3,100 newborns in Italy and have identified a surprisingly high frequency of newborn males around one in 1,500 in Taiwan. Research
Enzyme replacement therapy: Replacement of the missing enzyme to clear the lipids (GL-3) from the cells
Substrate synthesis inhibition, also called substrate reduction therapy: Inhibits the production of the lipid (GL-3) that accumulates in the cells
Chaperone therapy: Uses small-molecule drugs that bind to the defective enzyme and stabilize it to increase enzyme activity and increase cellular function
Gene editing: Technology that can potentially cut and fix a broken gene in a cell
Gene therapy: Genetically modifies the affected cells to produce the missing enzyme. History
Fabry disease was first described by  dermatologist Johannes Fabry and  surgeon William Anderson independently in 1898. It was recognised to be due to abnormal storage of lipids in 1952. In the 1960s, the inheritance pattern was established as being X-linked, as well as the molecular defect responsible for causing the accumulation of glycolipids.Ken Hashimoto published his classic paper on his electron microscopic findings in Fabry disease in 1965.The first specific treatment for Fabry disease was approved in 2001. Society and culture
House ("Epic Fail", season six, episode three) centers on a patient with Fabry disease. Scrubs ("My Catalyst", season three, episode 12) features a Fabry disease diagnosis. Crossing Jordan ("Theres No Place Like Home", season two, episode one) features a patient who died from Fabry disease.
Late gadolinium enhancement shows increased signal of the midwall at the inferolateral wall of the base of the left ventricle, usually in the non-hypertrophic ventricle. T1-weighted imaging can show low T1 signal due to sphingolipid storage in the heart even without ventricular hypertrophy in 40% of the those affected by the disease. Thus, MRI is a useful way of diagnosing the disease early. T2 signal is increased in inflammation and oedema. Treatment
The treatments available for Fabry disease can be divided into therapies that aim to correct the underlying problem of decreased activity of the alpha galactosidase A enzyme and thereby reduce the risk of organ damage, and therapies to improve symptoms and life expectancy once organ damage has already occurred. Therapies targeting enzyme activity
Enzyme replacement therapy is designed to provide the enzyme the patient is missing as a result of a genetic malfunction. This treatment is not a cure, but can partially prevent disease progression, and potentially reverse some symptoms. As of March 2022, two medical drugs based on enzyme replacement therapy are available for Fabry disease:
Agalsidase alfa, sold under the brand name Replagal by the company Takeda (since its acquisition of the company Shire), is a recombinant form of alpha-galactosidase A It received approval in the EU in 2001. FDA approval was applied for the United States. However, Shire withdrew their application for approval in the United States in 2012, citing that the agency will require additional clinical trials before approval. As of March 2022, Replagal has not received FDA approval.