Fabry disease


What are the symptoms of Fabry disease?

Fabry disease is often divided into two types, "classic" and "non-classic or late onset". Both forms lead to serious medical problems, but most often people with classic Fabry disease have earlier and more severe symptoms. Classic and non-classic Fabry disease affects both women and men, although symptoms vary more in women due to the way Fabry disease is passed through families.

In Classic Fabry disease, the early signs usually begin in childhood and include heat intolerance, sweating abnormalities, overheating while exercising, protein in the urine, a characteristic starburst pattern on the cornea seen during eye exams, a reddish-purple skin rash or lesions, burning or tingling pains in the hands and feet, chronic tiredness, and gastrointestinal issues, such as chronic diarrhea, bloating, and constipation. Usually the first signs of Fabry disease in kids are a tingling or pain in the hands and feet when overheated or sick and frequent bloating and diarrhea. In adults, these symptoms worsen and can also include decreasing kidney function, abnormal heart rhythms, severe abdominal pain, difficulty eating normal sized meals, numbness in the hands and feet, hearing loss, mini-strokes, fuzzy thinking, dizziness/vertigo, depression, anxiety, and panic attacks. Since the condition is progressive, untreated Fabry disease can lead to severe health problems such as kidney failure, heart disease, as well as nerve and brain problems, such as stroke. Not every person with Fabry disease will present with the same symptoms; however, without treatment, the disease will worsen over time. Some people with non-classic Fabry disease typically do not have childhood symptoms, but can have many of the same health problems as people with classic Fabry disease at a later age. Kidney and heart disease may occur much earlier than in the average person, so monitoring for Fabry-related health problems should start at the time of diagnosis.

To learn more about the health issues seen in Fabry disease, visit the Fabry Support and Information Group (FSIG) and the National Fabry Disease Foundation (NFDF).

There is also an excellent summary about Fabry disease written for doctors at Fabry Disease- GeneReviews.

Mehta, A. (2017, January 5). Fabry Disease. Retrieved November 22, 2019, from http://www.ncbi.nlm.nih.gov/books/NBK1292/.

Fabry Disease. (n.d.). Retrieved November 22, 2019, from http://rarediseases.org/rare-diseases/fabry-disease/.

Laney DA, Bennett RL, Clarke V, Fox A, Hopkin RJ, Johnson J, O'Rourke E, Sims K, Walter G Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors. J Genet Couns. 2013 Oct;22(5):555-64. http://www.ncbi.nlm.nih.gov/pubmed/23860966

Laney DA, Peck DS, Atherton AM, Manwaring LP, Christensen KM, Shankar SP, Grange DK, Wilcox WR, Hopkin RJ. Fabry disease in infancy and early childhood: a systematic literature review. Genet Med. 2015 May;17(5):323-30. http://www.ncbi.nlm.nih.gov/pubmed/25232851

National Fabry Disease Foundation. (n.d.). Retrieved from http://www.fabrydisease.org.

Fabry disease revisited: Management and treatment recommendations for adult patients. Ortiz A, Germain DP, Desnick RJ, Politei J, Mauer M, Burlina A, Eng C, Hopkin RJ, Laney D, Linhart A, Waldek S, Wallace E, Weidemann F, Wilcox WR. Mol Genet Metab. 2018 Apr;123(4):416-427. doi: 10.1016/j.ymgme.2018.02.014. Epub 2018 Feb 28. Review. https://www.sciencedirect.com/science/article/pii/S1096719217307680?via%3Dihub Retrieved 12DEC19.

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