Fabry Disease
last authored:
last reviewed:
Introduction
Fabry Disease is due to a mutation in the enzyme ceramide trihexosidase, or alpha-galactosidease-A, responsible for lipid metabolism. It affects 1:40,000 males.
The Case of...
a simple case introducing clincial presentation and calling for a differential diagnosis to get students thinking.
Causes and Risk Factors
The gene is carried on the X-chromosome, meaning males who inherit the mutation will develop the disease while daughters have a 50% chance of being a carrier. However, some women may also have symptoms of the disease.
Pathophysiology
Mutation results in insufficient lipid breakdown, resulting in deposition in the eyes, kidneys, autonomic nervous system, and cardiovascular system.
Signs and Symptoms
- history
- physical exam
History
Symptoms usually begin in childhood or adolescence. These can include:
- burning sensations in the hands can worsen with exercise or hot weather
- anhydrosis
- fever
- gastrointestinal hypermotility, leading to frequent bowel movements
- joint pain and back pain
- tinnitus
Physical Exam
Small, reddish-purple angiokeratomas may be present on the skin, most densely from the umbilicus to the knees.
Eye manifestations can include cloudiness of the cornea, though vision tends not to be affected.
Investigations
- lab investigations
- diagnostic imaging
Lab Investigations
Diagnostic Imaging
Differential Diagnosis
Treatments
Enzyme replacement can help slow progression.
Anticonvulsants such as phenytoin or carbamazepine can help with pain in hands and feet.
Metaclopramide can help delay gastric emptying.
Kidney failure can lead to dialysis or transplantation.
Fabry disease has diverse manifestations, requiring treatment from a variety of health care professionals.
- Nephrologists monitor and treat kidney function, providing dialysis or transplantation if indicated.
- Dietitians can suggest low-protein, renal-friendly diets, as well as cardiovascular diets and low-fat diet for gastric hypermotility.
- Hematologists or neurologists are involved in prevention of cerebral thrombosis.
- Dermatologists treat angiokeratomas, often with laser treatment.
- Cardiologists are involved in prevention and treatment of cardiovascular disease, employing valve replacement, pacemaker insertion, angioplasty, and CABG.
- Gastroenterologists provide advice and treatment for motility problems
Consequences and Course
Survival into adult is common, but strokes, heart disease, and kidney failure often begin between ages of 30-45.
Resources and References
Patient and Family Organizations include:
Fabry Support and Information Group (outside link)
National Tay-Sachs and Allied Diseases Association (outside link)
Video explaining lysosomal disease
Topic Development
authors:
reviewers:
 |