Fabry Disease
About the Disease | Signs / Symptoms | Diagnosis | Sample Requirements l Results and Turnaround Time l Shipping l CPT Codes
About the Disease
Fabry Disease is also known as Alpha-Galactosidase A Deficiency (GLA Deficiency) or Anderson-Fabry Disease.
How common is Fabry Disease?
Fabry disease is a lysosomal storage disease. It is estimated that about 1 in 40,000 males are affected with Fabry disease. The incidence in females is not well documented in the literature at this time. Fabry disease can occur in all ethnic / demographic groups.
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What are the symptoms of Fabry Disease?
Fabry disease is caused by decreased activity of an enzyme called alpha-galactosidase A. This enzyme is supposed to break down fats that the body has made. When these fats cannot be broken down, they are stored in the lysosomes of certain types of cells. Disease symptoms and signs are caused by this storage and chemicals that are released from these cells.
Signs and symptoms tend to present at distinct ages. Males typically present in childhood with hand pain temperature intolerance, and unexplained high fevers. Around puberty, they may develop flat or slightly raised vascular lesions, abdominal pain, nausea, diarrhea, and absence of sweating or diminished sweating. Life-threatening complications of kidney failure, heart disease, and strokes may present as early as the third to fourth decade. Without any medical intervention males with Fabry disease typically die in their mid forties. Modern medical interventions, such as kidney transplant and enzyme replacement therapy, may extend the lives of affected males.
Heterozygote females for Fabry disease may be completely asymptomatic or as severely affected as males. The majority of heterozygote women will have a combination of signs and symptoms that present later than affected males. They remain at risk for kidney failure, heart disease, and early strokes. The same medical interventions available for affected males can be used in symptomatic females.
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How is Fabry Disease Diagnosed?
Fabry disease should be suspected in a male or female when hand pain, flat or slightly raised vascular lesions, diminished sweating, stroke at an early age, left ventricular hypertrophy, and / or kidney insufficiency of unknown etiology are present. Family history of early death from kidney failure, heart disease, or stroke, particularly in males, should increase suspicion.
In males, the disease is confirmed by measuring decreased enzyme activity in plasma, leukocytes, or cultured skin fibroblasts. This can be done by obtaining a blood sample and sending it to a special laboratory that measures the enzyme activity. In addition to enzyme testing, it is recommended that males also have molecular testing to identify the mutation in the GLA gene resulting in Fabry disease. This result becomes very important when testing other at risk family members, in particular, females.
In females, enzyme testing is unreliable. Therefore, in order to accurately diagnose heterozygote females, determination of the mutation in the GLA gene is essential.
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Sample Requirements
Blood samples should be collected in EDTA (lavender topped) tubes. A minimum of 5cc on adult or 3cc on child is required for analysis. Blood collected on Friday may be stored in refrigerator until Monday for overnight shipment. For other tissue requirements please call 1-800-344-2462, extension 4474.
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Results and Turnaround Time
Reports are routinely available within 3 weeks of sample receipt. Abnormal results will be called to the referring physician. Reports will be faxed to the referring physician and followed up with a mailed original.
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Blood Sample Packaging and Shipping Instructions
Blood samples must be sent to the laboratory by overnight courier (Federal Express). DO NOT SHIP SAMPLES ON A FRIDAY.
All samples must be clearly labeled with the patient's name and birth date and should be initialed by the phlebotomist to attest to the patient's identity on the label.
- Please enclose the appropriate test requisition with sample. All information must be completed before sample can be processed.
- All samples must be clearly labeled with the patient's name and birth date and initialed by the phlebotomist.
- All samples should be wrapped, cushioned against breakage and sealed in a plastic bag before placement in the shipping container.
- All samples should be sent at room temperature.
- Do not allow to freeze.
- Samples should be sent by overnight carrier to arrive Monday through Friday.
- Keep a copy of requisition form for your records.
Ship Samples To
Molecular Genetics Laboratory
Cincinnati Children's Hospital Medical Center
3333 Burnet Ave., NRB 1042
Cincinnati, OH 45229
513-636-4474
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CPT Codes
Please call 866-450-4198 for current pricing.
| Test | CPT Code |
|---|
| Alpha-Galactosidase (GLA) Full Gene Sequence |
83890, 83898 (x7), 83894 (x7), 83891 (x7), 83904 (x14), 83912 |
| Alpha-Galactosidase Known Mutation |
83890, 83898, 83894, 83891, 83904, 83912 |
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