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
- 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.
- Dermatology in Practice (2003), 11(6), 24-7.
Last reviewed 01/2018