Dear Ophthalmologist:

You may have seen them during slit lamp ophthalmoscopy: characteristic whorlings in the cornea and lens of pediatric, adolescent or adult patients that do not affect vision. These opacities may be caused by deposits of a glycolipid, globotriaosylceramide, that cannot be degraded due to an enzymatic defect in the lysosomal enzyme alpha–galactosidase A, causing Fabry disease. This disease follows an X-linked inheritance, so your male patients are homozygotes, while female heterozygotes may exhibit only mild symptoms. In the early stages, your patients’ other complaints may be episodic paresthesia, hypohidrosis and heat and cold intolerance.

Since the deposits are not affecting vision, you may have made only a note of them in your charts and not followed up on them further. However, it is important for these patients to be diagnosed early with this disease, since the progressive accumulation of glycolipids, mainly in the walls of blood vessels, causes multiple organ impairment and dysfunction. Most patients are diagnosed only in adulthood and succumb in their forties or fifties to renal failure, cardiovascular and/or cerebrovascular disease.

Enzyme replacement therapy is now available to prevent the progression to heart and kidney damage, stroke and untimely death, and provide relief for early symptoms. The FDA has approved the therapy for treatment of patients. Your patients are eligible for TESTING. If their diagnosis is confirmed by a simple test of alpha-galactosidase activity in their blood sample, they can be evaluated for treatment.

We would like to solicit your help in identifying patients with Fabry disease. Please check your charts for patients displaying the above-mentioned symptoms, and then send them a letter informing them of the availability of testing. Enclosed please find a draft of that type of letter providing the relevant information on how to obtain a testing kit that maybe used in any physician’s office. You may copy this letter onto your letterhead and modify it in any way you feel is appropriate. It will be the patient’s decision to follow up on this letter, but we would appreciate your encouragement. Enzyme replacement therapy for a similar disease, Gaucher’s disease, is one of the most successful applications of modern science and has helped many patients to lead normal lives without the pain and complications of that disease. We hope to provide similar relief to patients with Fabry disease by replacing the missing alpha-galactosidase enzyme. Their lives may depend on it.

We thank you for your efforts and cooperation, and we are certain your patients will, too.

Dear Ophthalmologist Patient Draft