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Clinical features

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

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.

Reference:

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

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