clinical features

Last reviewed 11/2022

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.