Identifying Fabry

Recognising Fabry disease in clinical practice is challenging. The disease presentation is heterogeneous and some early signs and symptoms of Fabry disease (e.g. neuropathic pain) have an extensive differential diagnosis.1

Fabry disease has a wide variety of signs and symptoms due to multiple organ involvement. This means that a number of different medical specialists can play an important role in detecting Fabry disease. The signs and symptoms most likely to be identified by specialty are outlined in the table below.

Common presenting features of Fabry disease by specialty1-3

Specialty Signs and symptoms
Paediatricians
  • Neuropathic pain and/or acroparesthesias
  • Angiokeratomas
  • Hypohidrosis/anhidrosis
  • Heat and cold intolerance
  • Gastrointestinal symptoms (eg. abdominal pain, vomiting)
Primary care physicians
  • Neuropathic pain and/or acroparesthesias
  • Angiokeratomas
  • Hypohidrosis/anhidrosis
  • Heat and cold intolerance
  • Gastrointestinal symptoms (eg. abdominal pain, vomiting)
  • Fatigue
Nephrologists
  • Gb3 accumulation in glomerular endothelial, mesangial, intersticial cells, in podocytes, in epithelium of the loop of Henle and the distal tubules, and in endothelial and smooth muscle cells of the renal arterioles
  • Unexplained chronic kidney disease
  • Proteinuria
  • Tubular dysfunction
Cardiologists
  • Impaired heart rate variability
  • Arrhythmias
  • ECG abnormalities (eg. shortened PR interval)
  • Mild valvular insufficiency
  • Ventricular hypertrophy
  • Angina
  • Dyspnea
  • Myocardial infarction
  • Fibrosis
Eye care professionals
  • Cornea verticillata
Dermatologists
  • Angiokeratomas
  • Hypohidrosis/anhidrosis
  • Heat/cold and exercise intolerance
Rheumatologists
  • Neuropathic pain and/or acroparesthesias, which may be accompanied by fever, deep ache, joint pains, and elevated erythrocyte sedimentation rate (ESR)
Neurologists
  • Transient ischemic attacks
  • Premature stroke
  • Hearing loss, tinnitus
  • Vertigo, dizziness
  • Neuropathic pain and/or acroparesthesias
  • Heat/cold and exercise intolerance

 

References

  1. 1.Germain DP. (2010) Fabry disease. Orphanet J Rare Dis 5: 30.
  2. 2.Cimaz R, Guillaume S, Hilz MJ, et al. (2011) Awareness of Fabry disease among rheumatologists--current status and perspectives. Clin Rheumatol 30(4): 467-475.
  1. 3.El-Abassi R, Singhal D, England JD. (2014) Fabry's disease. J Neurol Sci 344(1-2): 5-19.