Signs and symptoms

Signs and symptoms of Fabry disease arise from lysosomal GL-3 accumulation affecting the nervous system, kidneys, heart, gastrointestinal tract, skin, eyes and cerebral vasculature.1

Pain with onset in childhood, cornea verticillata, angiokeratomas, and anhidrosis or hypohidrosis are early hallmark features of classical Fabry disease.1

Progressive organ damage develops with age, with significant renal, cardiac and cerebrovascular complications typically occurring after the age of 20 years in classically affected individuals.2 The predominance of renal, cardiac and cerebrovascular disease differs among patients as progression in different organ systems occurs independently.3 The morbidity and mortality associated with these complications limits the life-expectancy of untreated males to approximately 50 years, and untreated females to 70 years.2 End-stage renal disease, cerebrovascular or cardiovascular complications are common causes of death.1,3

Characteristic signs and symptoms of Fabry disease are often absent in patients with atypical forms of the disorder.4,5 These individuals usually have milder disease and delayed presentation of symptoms arising from predominantly single-organ involvement.2

Disease Progression

Disease Progression

Accumulation of α-galactosidase A substrates over time triggers a cascade of events leading to secondary disease processes. Progressive damage to vital organ systems leads to significant renal, cardiac and cerebrovascular complications.

Early Symptoms

Early Symptoms

A wide range of signs and symptoms are observed in Fabry disease due to the storage of Gb3 in a variety of cell types.

Clinical presentation

Clinical presentation

Learn about clinical findings which may lead to a presumptive diagnosis of Fabry disease. 

References

  1. 1.Germain DP. (2010) Fabry disease. Orphanet J Rare Dis 5: 30.
  2. 2.El-Abassi R, Singhal D, England JD. (2014) Fabry's disease. J Neurol Sci 344(1-2): 5-19.
  3. 3.Zarate YA, Hopkin RJ. (2008) Fabry's disease. Lancet 372(9647): 1427-1435.
  1. 4.Nakao S, Takenaka T, Maeda M, et al. (1995) An atypical variant of Fabry's disease in men with left ventricular hypertrophy. N Engl J Med 333(5): 288-293.
  2. 5.Nakao S, Kodama C, Takenaka T, et al. (2003) Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype. Kidney Int 64(3): 801-807.