clinical features

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Presentation is with peripheral nerve involvement, which causes pain in the extremities in the teens. These can be worse after exertion.

  • two types of pain are recognised:
    • acroparaesthesia - typically a tingling, burning pain, chronic pain in the hands and feet
    • Fabry crises - often excrutiating; commencing in the hands and feet and radiating to other parts of the body - lasts for minutes to several days; the painful crises may be accompanied by pyrexia and a raised ESR.

Patients with Fabry disease are often chronically tired.

In addition there is a distinctive rash of blue-black telangiectasia in a bathing trunk distribution (angiokeratoma corporis difusum) which occurs in patients with Fabry disease. Other features of the rash:

  • this generally appears shortly before puberty.
  • the lesions gradually become more numerous and darker in colour
  • the rash tends to have a grouped appearance - occurring especially on the thighs, shaft of penis, scrotum, hips, buttocks and periumbilically

Other manifestations include:

  • ocular manifestations
    • conjunctival and retinal vessel dilatation and tortuosity
    • corneal verticillata - spoke-like corneal opacities visualised on slit-lamp examination - present in nearly all hemizygotes
    • anterior capsular lens depositis
    • posterior Fabry cataracts - appear as granular, whitish spoke-like deposits on the posterior lens - seen in about 37% of hemizygotes
  • gastroinstinal manifestations
    • include episodic diarrhoea and cramping, postprandial pain and bloating
  • renal manifestations
    • often proteinuria develops in late adolescence; the continuing accumulation of glycosphingolipid in glomerular, vascular, interstitial cells and renal tubules, will lead to renal failure
  • cardiac manifestations
    • valvular disease - particularly mitral valve prolapse
    • left ventricular hypertrophy
    • coronary heart disease
    • arrhythmias
    • congestive cardiac failure
  • cerebrovascular manifestations
    • include premature transient ischaemic attacks, stroke; also may present with vertigo and nystagmus

Previously, death commonly occurred in the fourth or fifth decade - before renal dialysis and transplantation, the average age at death was 41 years.


  1. Dermatology in Practice (2003), 11(6), 24-7.

Last reviewed 01/2018