Fabry disease


What are the main symptoms of Fabry disease in children?

In classic Fabry disease, the early signs usually begin in childhood. Symptoms include tingling or burning pains in the hands and feet, sweating abnormalities, heat intolerance, protein in the urine, reddish-purple skin lesions called angiokeratomas, chronic tiredness, and gastrointestinal issue, such as chronic diarrhea, gas, and constipation. Usually the first signs of Fabry disease in kids are a tingling pain in the hands and feet when overheated or sick, frequent bloating, and diarrhea. Children with non-classic or late onset Fabry disease may have some or all of these symptoms and their health should be monitored in either type. Based on United States expert treatment recommendations and published guidelines from the European Fabry Working Group, patients of either sex with certain symptoms due to Fabry disease should be considered for treatment. Based on published cases of Fabry disease in children we have learned the following information about the possible timing of Fabry related health problems:

Ages 1 to 6:

Some children will have mild or no symptoms throughout their childhood, because the disease can vary in its severity and symptom presentation. As early as age 2, children with classic Fabry disease may have burning or tingling pain in their hands or feet when overheated. Doctors and medical professionals may refer to this pain as acroparethesias. Children may also experience Fabry "pain crises" that consist of episodes of severe pain lasting from a few minutes to several days, usually triggered by illness, fever, stressful conditions, or heat. As children as young as 3 ½ often cannot sweat, they have problems in hot conditions, while working, or during active play, as their body cannot cool correctly. Young children can begin having gastrointestinal problems, including diarrhea, nausea, bloating, abdominal pain, and vomiting as early as 1 year of age if they are affected by classic Fabry disease. They may begin to develop angiokeratomas, small, purple-red bumps that can be mistaken for a rash as early as age 4 years.

Ages 7 to 10:

As they progress through their childhood, many of the previously mentioned symptoms may worsen, such as the gastrointestinal problems, or become more obvious, like the angiokeratomas. On heart testing, children with Fabry may have a slow heartbeat (bradycardia) that doesn't appear to cause any symptoms. Some children will have undetectable symptoms in their early childhood and begin to develop obvious problems after age 10.

Ages 11 to 18:

Although young teens tend to have similar symptoms as children, older adolescents and young adults may, in addition, begin developing kidney disease (e.g. proteinuria and worsening kidney function), heart palpitations/chest pain, and an enlarged heart. Evidence of these effects include protein in the urine, more severe pain crisis, heart palpitations, panic attacks, and shortness of breath. Many patients will have have an eye finding called corneal verticillata or more commonly described as a "propeller whorl". Most optometrists can diagnosis this eye finding with a slit lamp examination.

As the symptoms of Fabry disease progress, the quality of life can diminish and living with Fabry disease can cause depression (~46% of patients) and severe clinical depression (~28%). It is important to seek evaluation for depression.

The best place to learn more about the early signs of Fabry disease in children, is a Fabry center. Find a Fabry center nearby at the National Fabry Disease online resource.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/fabry-disease/symptoms/563 • DATE UPDATED: 2019-12-12


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

Hopkin RJ, Jefferies JL, Laney DA, Lawson VH, Mauer M, Taylor MR, Wilcox WR; Fabry Pediatric Expert Panel. The management and treatment of children with Fabry disease: A United States-based perspective. Mol Genet Metab. 2016 Feb;117(2):104-13. http://www.ncbi.nlm.nih.gov/pubmed/26546059

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

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