What Is Fabry disease? 

Fabry disease is a rare genetic condition. It results from the buildup of a particular type of fat, called globotriaosylceramide, in the body's cells. Beginning in childhood, this buildup causes signs and symptoms that affect many parts of the body. Characteristic features of Fabry disease include; episodes of pain, particularly in the hands and feet (acroparesthesias); clusters of small, dark red spots on the skin called angiokeratomas; a decreased ability to sweat (hypohidrosis); cloudiness of the front part of the eye (corneal opacity); problems with the gastrointestinal system; ringing in the ears (tinnitus); and hearing loss. Fabry disease also involves potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke. Some affected individuals have milder forms of the disorder that appear later in life and affect only the heart or kidneys. Reference: https://ghr.nlm.nih.gov/condition/fabry-disease


The Understanding Fabry Disease brochure produced by Fabry Australia and reviewed by the Fabry Australia Medical Advisory Committee is an excellent resource for reading when first diagnosed or explaining Fabry Disease to a loved one, friend or GP. 
















What is OMIM?

Online Mendelian Inheritance in Man® or OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily. The full-text, referenced overviews in OMIM contain information on all known mendelian disorders and over 15,000 genes. OMIM focuses on the relationship between phenotype and genotype. It is updated daily, and the entries contain copious links to other genetics resources. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

The OMIM for Fabry disease is # 301500

To view all detailed information about Fabry disease which is most helpful to health professionals who have little knowledge on the disease, look up the specific OMIM link for Fabry disease here; http://omim.org/entry/301500

Why is the disease called 'Fabry disease'?

Fabry disease was first identified in 1898 by two dermatologists working independently, Dr William Anderson in England and Dr Johannes Fabry in Germany. They separately published papers in which they described patients with skin lesions, known as angiokeratomas, which are now recognised as a common sign of Fabry disease. The disease has a number of names and was for many years known as Anderson-Fabry disease, but is now usually referred to simply as Fabry disease. 

Misdiagnosis of Fabry disease

Misdiagnosis is common in Fabry disease due to its rarity. Fabry disease has been mistaken for;

  • Meniere's disease

  • Crohn’s disease

  • Multiple sclerosis

  • Rheumatic fever

  • Arthritis

  • Raynaud syndrome

  • Irritable bowel syndrome

  • Erythromelalgia