About Fabry disease
What is Fabry disease?
Fabry disease is a progressive, multisystemic disease1 that can manifest in a multitude of ways due to its impact on a range of cells and organs throughout the body.2
In the classic phenotype, neurological symptoms such as pain, abnormal tingling and numbness sensation especially in the fingers or toes and dermatological conditions such as angiokeratomas (reddish-purple, non-blanching maculopapular lesions) are early signals of Fabry disease.2,3
Gastrointestinal symptoms such as diarrhoea, constipation and abdominal pain are often reported early in the course of the disease.1 The gastrointestinal symptoms of Fabry disease are very similar to those seen in other more common conditions such as irritable bowel syndrome, which may lead to delays in diagnosis.4,5
Diagnosing Fabry
An example of the diagnostic flow following the first clinical suspicion of Fabry disease is shown in this flowchart.2,9
Diagnosing Fabry
An example of the diagnostic flow following the first clinical suspicion of Fabry disease is shown in this flowchart.2,9
*Sometimes, if there is very high clinical suspicion, the clinician may choose to do GLA genotyping even if the enzyme activity is normal.9
References
- Hoffmann B, Mayatepek E. Fabry disease-often seen, rarely diagnosed. Dtsch Arztebl Int. 2009;106(26):440-447.
- Germain DP. Fabry disease. Orphanet J Rare Dis. 2010;5:30. doi:10.1186/1750-1172-5-30.
- Desnick RJ, Brady R, Barranger J, et al. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med. 2003;138(4):338-346.
- Hoffman B, Schwarz M, Mehta A, et al. Gastrointestinal symptoms in 342 patients with Fabry disease: prevalence and response to enzyme replacement therapy. Clin Gastroenterol Hepatol. 2007;5(12):1447–53.
- Zar-Kessler C, Karaa A, Bustin Sims K, et al. Understanding the gastrointestinal manifestations of Fabry disease: promoting prompt diagnosis. Ther Adv Gastroenterol. 2016;9(4):626–34.
- Hughes DA, Evans S, Milligan A et al. A multidisciplinary approach to the care of patients with Fabry Disease. In Mehta A, Beck M, Sunder-Plassmann G, editors. Fabry Disease: Perspectives from 5 Years of FOS.Oxford:Oxford PharmaGenesis; 2006. Chapter 35
- Martins A, Almeida V, Obikawa Kyosen S. Guidelines to Diagnosis and Monitoring of Fabry Disease and Review of Treatment Experiences. The Journal of Paediatrics 2009; 155 (suppl 2):S19-S31
- Yousef Z, Elliott PM, Cecchi F, et al. Left ventricular hypertrophy in Fabry disease: a practical approach to diagnosis. Eur Heart J. 2013;34(11):802-808.
- Ortiz A, Germain DP, Desnick RJ, et al. Fabry disease revisited: Management and treatment recommendation for adult patients. Mol Genet Metab. 2018:123(4):416-427.