1. Definition: a severe inherited disorder that results from abnormal fat deposits throughout the body.
a. Primary problem with this disease is alpha-galactosidase-A deficiency; defaults lipid metabolism
b. Fabry disease can be a cause of end-stage-renal-disease
c. A lot of people die due to complications such as strokes, heart failure, or kidney failure
2. Symptoms:
a. Common signs and symptoms
b. Intermittent episodes of severe pain in the extremities
c. Dark spots ranging from the umbilicus to the knees
d. Change on the cornea of the eye with no vision change
e. Sweating dysfunction; diminished perspiration
3. Diagnosis: commonly seen with rheumatologic conditions or rheumatic fever
a. Males:
i. Family history Fabry disease
ii. Low alpha-Gal A activity in leukocytes or plasma
b. Female carriers:
i. Family history of Fabry disease
ii. Mutation analysis of the alpha-Gal A gene
4. Treatment:
a. Enzyme replacement therapy
b. For pain
i. Carbamazapine (Tegretol)
ii. Dilantin or Neurontin
iii. Metoclopramide
iv. NSAIDs should be avoided
5. More information:
- National Fabry Disease Foundation: http://www.fabrydisease.org/index.php?57049bce
- National Organization for Rare Disorders: http://rarediseases.org/rare-diseases/fabry-disease/
6. Reference:
- http://eurheartj.oxfordjournals.org/content/early/2012/06/26/eurheartj.ehs166
- http://www.uptodate.com.jerome.stjohns.edu:81/contents/clinical-features-and-diagnosis-of-fabry-disease?source=search_result&search=Fabry+Disease&selectedTitle=1~44#H6526061
- http://www.fabry.org/fsig.nsf/pages/fabry
- https://ghr.nlm.nih.gov/condition/fabry-disease
- https://www.amrita.edu/news/audio-conference-fabry-disease
