Fabry disease
Shown below are possible signs and symptoms of Fabry disease. Absence of a particular symptom does not rule out this disease.
|
Musculoskeletal
|
- Osteopenia, osteoporosis
- Diffuse pain in joints, distal limb pain, muscle pain
|
|
|
Other Symptoms
|
Neurological:
- Pain crisis, burning pain in hands and feet (acroparesthesia)
- Stroke
- Transient ischaemic attacks
- Thrombosis
- Recurrent episodes of fever, inability to sweat (hypohidrosis)
|
|
|
|
burning pain in extremities
|
|
Ophthalmological:
- Corneal opacities, cornea verticillata (whorl-like corneal rays)
|
|
Dermatological:
- Dark red skin lesions (Angiokeratoma)
|
|
|
|
red skin lesions
(angiokeratoma) 2
|
|
Cardiac:
- Early cardiovascular disease (hypertrophic cardiomyopathy)
- Arrhythmias
- Vascular insufficiency
- Myocardial infarction
|
|
|
|
left ventricular hypertrophy in a 50-year-old Fabry patient. Note markedly thickened myocardium 3
|
|
| Renal:
|
|
|
|
Light micrograph of Fabry renal capillary endothelium. Arrows indicate areas of globotriaosylceramide (GL-3) lipid substrate deposition, which may play a role in renal failure.
|
|
Gastrointestinal:
- Nausea, vomiting
- Diarrhoea
|
|
Other:
- Hearing loss, sudden deafness, vertigo
- Coughing, wheezing
- Exercise intolerance
- Difficulty gaining weight
|
|
|
Do you recognise any of these symptoms in your patients?
 Download "Fabry disease overview"
|
Go to DIAGNOSIS to learn what to do if you suspect a patient of having a lysosomal storage disorder.
References:
1. Courtesy of Dr. R.J. Descnick
2. Courtesy of Dr T. Szymanska
3. Courtesy of R.J. Desnick, PhD, MD
|
