Fabry Disease

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.

How and when was Fabry disease first discovered?

Fabry disease was first discovered in 1898 by Dr. William Anderson and Dr. Johann Fabry. They discovered Fabry disease through having patients with particular skin lesions.

What is the incidence rate of Fabry disease?

Fabry Disease is estimated to affect 1 in 40,000 to 60,000 males. This disorder also occurs in female although the occurence is unknown.

6. Are any specific populations of people affected more than others?

Fabry disease affects more males than females.

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
  • dizziness
  • tinnitus - ringing in the ears
  • headaches
  • fevers

How is the disease diagnosed?

Fabry disease can be hard to diagnosis because it is very uncommon. It can be diagnosed by a test of the amount of leukocyte alpha-Galactosidase A enzyme activity. It can sense the presence of the mutation in Fabry disease in males.

How is Fabry disease treated?

  • Diphenylhydantoin-pain
  • 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

Works Cited

Cunha, John P. "Fabry Disease." MedicineNet.com, edited by William C. Shiel, 2017, www.medicinenet.comm/script/main/art.asp?articlekey=1956. Accessed 3 Feb. 2017.

---. "Fabry Disease." MedicineNet.com, edited by William C. Shiel, 2017, www.medicinenet.comm/script/main/art.asp?articlekey=1956. Accessed 3 Feb. 2017.

www.amrita.edu/news/audio-conference-fabry-disease. Accessed 5 Feb. 2017.

"Fabry Disease." Fabry Disease. NIH.gov, Genetic And Rare Diseases Information Center, rarediseases.info.nih.gov/diseases/6400/fabry-disease#ref_4005.

"Fabry Disease." Genetic Home Reference, U.S. Department of Health and Human Services, 31 Jan. 2017, ghr.nlm.nih.gov/condition/fabry-disease. Accessed 4 Feb. 2017.

"Fabry Disease Diagnosis." Fabry Disease Diagnosis, www.keyword-suggestions.com/ZmFicnkgZGlzZWFzZSBkaWFnbm9zaXM/. Accessed 5 Feb. 2017.

"Fabry Disease Discovery." Who Discovered Fabry Disease?, 2017, www.fabry.com.au/page/13/what-is-fabry-disease. Accessed 5 Feb. 2017.

"Fabry Disease Overview." Fabry Community, Genzme corporation, a Sanofi company, 2017, www.fabrycommunity.com/en/Patients/Education/Overview.aspx. Accessed 3 Feb. 2017.

"Fabry Disease Treatment." Treatment For Fabry Disease, 2017, www.globaldata.com/healthcare/media-center/press-releases/pharmaceuticals/fabry-disease-treatment-market-value-will-reach-125-billion-by-2024-says-globaldata. Accessed 5 Feb. 2017.

"Fabry Research." Fabry Puzzle, 2014, www.slideshare.net/FSIG_ORG/laney-emory-lsdc-fsig-feb-2014. Accessed 5 Feb. 2017.

"Life Expectancy Of Male and Female." Genetic in Medicine, 2017, www.nature.com/gim/journal/v11/n11/fig_tab/gim2009120f1.html. Accessed 12 Feb. 2017.

"NATIONAL FABRY DISEASE POPULATION." National Fabry Disease Foundation, 2017, www.fabrydisease.org/index.php/about-fabry-disease/how-many-people-have-fabry-disease. Accessed 5 Feb. 2017.

"Signs and Symptoms of Fabry Disease." Learn About Fabry Disease, July 2016, fabrydisease.info/fabry-disease-symptoms/. Accessed 5 Feb. 2017.

"Stroke in Fabry Disease." Stroke, 23 Feb. 2009, stroke.ahajournals.org/content/40/3/788. Accessed 5 Feb. 2017.

"What Fabry Disease Does." Fighting Fabry Disease, 2013, www.kindsnacks.com/foundation/causes/cause/fighting-fabry-disease/. Accessed 5 Feb. 2017.

"X Linked Trait." DiseaseZoom, 2015, diseaseszoom.com/fabry-disease-pictures-symptoms-diagnosis-treatment/. Accessed 5 Feb. 2017.

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