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Diagnosis

How is Fabry disease diagnosed?

Many patients with Fabry disease are initially misdiagnosed as the clinical course is highly variable, with a broad range of possible differential diagnoses1.

Although awareness of Fabry disease is growing amongst medical professionals, on average, the mean time between onset of symptoms and diagnosis is 13.7 years for adult males and 16.3 years for adult females2.

Due to the lack of specificity of symptoms, the diagnosis of Fabry disease is often delayed. Delays of > 20 years are common2.

Early diagnosis is essential to manage appropriately the effects of the disease on the major affected organs3.

Fabry disease can be diagnosed through blood test by checking how well Alpha-galactosidase A (α-GAL A) is working. Urine will have presence of proteins (proteinuria), or increased levels of albumin (albuminuria). The presence of lyso-Gb3, another fatty substance that accumulates as a result of α-GAL A deficiency in blood or urine can also detect the presence of the disease4,5.

In males levels of Alpha-galactosidase A (α-GAL A) are predictive of the diagnosis which is further confirmed by genetic analysis of GLA gene4.

In females levels of Alpha-galactosidase A (α-GAL A) are less predictive than males so the genetic analysis of GLA gene is usually needed to confirm the disease4.

Overall, the molecular testing of the GLA gene allows for a definite diagnosis. One can perform full DNA sequencing tests for both men and women with symptoms. It is even effective to identify the faulty gene in asymptomatic women5.

What are the genetic factors?

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Citations
  1. Hoffmann B, Mayatepek E. Fabry disease-often seen, rarely diagnosed. Dtsch Arztebl Int. 2009;106(26):440-447. doi:10.3238/arztebl.2009.0440
  2. Mehta A, Ricci R, Widmer U, Dehout F, Garcia de Lorenzo A, Kampmann C, Linhart A, Sunder-Plassmann G, Ries M, Beck M. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest. 2004 Mar;34(3):236-42. doi: 10.1111/j.1365-2362.2004.01309.x.
  3. Jamboti J, Forrest CH. Fabry disease; early diagnosis improves prognosis but diagnosis is often delayed. J Nephropathol. 2017;6(3):130-133. doi:10.15171/jnp.2017.22
  4. Winchester B, Young E. Biochemical and genetic diagnosis of Fabry disease. In: Mehta A, Beck M, Sunder-Plassmann G, editors. Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis; 2006. Chapter 18.
  5. Curiati MA, Aranda CS, Kyosen SO, et al. The Challenge of Diagnosis and Indication for Treatment in Fabry Disease. Journal of Inborn Errors of Metabolism and Screening. January 2017. doi:10.1177/2326409816685735.