What is Fabry disease? What is the gene mutation that causes Fabry disease? What is the protein produced by the gene?
Fabry disease is an inherited disorder that is caused by the accumulation of a particular type of fat in the body cells. The Gene for Fabry disease is GLA. The protein is Alpha-Galactosidase.
What are the symptoms?
Symptoms in males start in childhood
- painful sensations in hands and feet
- young patients frequently develop a dark red skin spotted rash (angiokeratomas)
- decreased ability to sweat
- clouding of the cornea, which does not affect vision
- kidney, heart and neurologic involvement
- mitral valve prolapse in the heart
- stomach discomfort
- frequent bowel movements especially after eating
- joint and back pain
- hearing loss and ringing in the ears
Female symptoms are uncommon
- angiokeratoma - dark red skin rash
- acroparesthesias - numbness/tingling of hands/feet
- anhidrosis - decreased sweating
- gastrointestinal disturbance
- Vascular lesions (in the conjunctiva and retina)
- autonomic and other neurological complications
Symptoms in Children
- earliest symptoms - pain and angiokeratomas
- cardiac and renal involvement
- inability to sweat
- nausea and vomiting
- tinnitus - ringing in the ears
How is Fabry disease treated?
- Carbamazepine (gabapentin)- pain
- Dilatin (phenytoin)-pain
- Neurotin (gabapentin)- pain
- Opioids- serious pain
- ACE inhibitors- decrease amount of proteinuria
- Chronic hemodialysis- kidney failure
- Renal transplantation- kidney transplant
- Aspirin- ischemic stroke
- Ticlopidin- ischemic stroke
- Clopidogtel (Plavix)- ischemic stroke
- Aspirin-dipyridamole (aggrenox) - ischemic stroke
- Pancrelipase- Gastointestinal hyperactivity
- Metoclopramide- Gastointestinal hyperactivity
- H2 blockers (ranitidine;Zantac, cimetidine; Tagamet, famotidine; Pepcid, and others)- Gastointestinal hyperactivity
- Loperamide- Gastointestinal hyperactivity
- Enzyme replacement- prevent Agalsidase-alpha and regulate kidney and heart function, and blood supply to brain
What is the prognosis for a patient diagnosed with the disease?
The life expectancy of males with Fabry disease is about 58 years. For females, the life expectancy is 75 years. The most common cause of death for both genders is cardiovascular. The life expectancy has increased from 41 to 50 years for males due to kidney dialysis and transplant.
What is the genetic pattern of inheritance (autosomal or sex-linked, dominant or recessive)?
Fabry disease is inherited in an x-linked pattern, which means the gene mutation is carried on the X chromosome. Males only have one X chromosome leading to severe symptoms of the GLA . Females have two X chromosome leading to less severe symptoms.
What current research is being conducted on the disease or its treatments?
- Clinical trials- trials that are studying Fabry disease
- Research portfolio online reporting tool- allows access to to reports, data, and analyses of research activities at the National Institutes of Health (NIH)
- Fabry registry- Fabry Disease history, development, and treatment
- Lysomal disease network- group of doctors, nurses, and research coordinators working together to improve the lives of the people with Fabry disease