Fabry Patient Survey Results

In August of 2003, Fabry disease questionnaire, sponsored by Genzyme Corporation, was mailed to a total of 848 people, including 500 FSIG members in the United States. A total of 256 people responded to the survey. The high number of respondents shows that, overall, people have an interest in sharing their Fabry experience.

The results from the survey help Genzyme better understand the experience and informational needs of people with Fabry disease, as well as help Genzyme better understand what leads people with Fabry disease to first see their doctors, which types of doctors they see, which type of doctor often ultimately makes the diagnosis of Fabry disease, and how long the process usually takes.

Results from the survey will also help Genzyme design Fabry disease educational resources for people living with Fabry disease, their families, and their healthcare providers.

Survey questions and the results are below:

Who was the first to notice signs and symptoms of Fabry disease?

63% say they (the patient) were the first to notice
26% say family members were the first to notice
11% say their physician/s were the first to notice

This information indicates people are often aware of signs and symptoms before their physicians, and may be especially true when there is a known family history of Fabry disease.

At the time signs and symptoms were first noticed, had any other family members already been diagnosed with Fabry disease?

This question was designed to help Genzyme better understand whether people and their physicians are more likely to link the signs and symptoms to Fabry disease if other people in the family have already been diagnosed with the disease.

This information might also help determine whether the disease is often diagnosed earlier in people who have other family members with the disease.

Who was the first physician you saw about your condition? (choose all that apply)
57% first saw their primary care physician or family doctor
13% first saw their pediatrician
7% first saw an ophthalmologist (eye doctor)
4% first saw a gastroenterologists (stomach problems)
3% first saw a cardiologist (heart problems)
2% first saw a dermatologist (skin problems)
2% first saw a nephrologist (kidney problems)

What led the physicians you saw to suspect you might have Fabry disease?
17% said kidney problems
14% said burning pain in arms/fingers or legs/toes
14% said family history/family member diagnosed
11% said dark red/purple skin spots (angiokeratomas) on stomach or buttocks
11% said corneal whorling (a pattern on the cornea of the eye)

What were the first signs and symptoms that were noticed? (choose all that apply)
The most common signs and symptoms that were first noticed were pain in arms/fingers or legs/toes, sensitivity to heat or coldness, and inability or decreased ability to sweat. Earlier awareness of these signs and symptoms among physicians may lead to an earlier diagnosis.

What are the signs and symptoms you currently experience? (choose all that apply)
Comparing these current signs and symptoms to early signs and symptoms that people experienced demonstrates that Fabry disease is progressive, and that symptoms like pain may be early indicators of an underlying disease progression. This information is consistent with information that is already published and available to physicians.

When did you first visit a doctor about your symptoms?
Half the people were over age 14 and half were under age 14 when they first saw a doctor about those symptoms.

How old were you when you were formally diagnosed with Fabry disease?
Half the people were over age 30 and half were under when they were diagnosed with Fabry disease.

These results show that, on average, many years pass between the time that people with Fabry disease first visit a doctor for their symptoms and the time that they are actually diagnosed with Fabry disease. During that period, Fabry disease continues to progress.

Which doctors do you currently see for the management of Fabry disease? (choose all that apply)
56% see primary care physician or family doctor
41% see a nephrologist (physician who specializes in the kidney)
30% cardiologist (physician who specializes in the heart)
28% see a geneticist (physician who specializes in inherited diseases)

How are those symptoms currently being treated?
40% are on enzyme replacement therapy, and at the time of the survey had been so for 1-3 months.

In addition, 43% take pain medications, 7% are on dialysis (for severe kidney problems), and 47% manage symptoms through other medications, lifestyle changes, or other non-medical methods (such as drinking lots of water).

Thinking about the long-term health consequences of Fabry disease, what are the signs and symptoms that concern you most?
59% said heart problems
54% said kidney problems
48% said cerebrovascular problems

Are you aware of comprehensive Fabry disease treatment centers and/or physicians experienced in treating patients in your area?
68% said yes

If you would like information about treatment centers in your area, please call Genzyme Corporation at 617-768-9000 or toll-free 800-745-4447 or email Genzyme Medical Information.

Are you male or female?

There is a growing understanding that women can be affected by signs and symptoms of Fabry disease to varying degrees. More information is still needed, however. That is why Genzyme’s Fabry Registry is tracking clinical information on people with Fabry disease, including women.

For more information on participating in the Fabry Registry, please speak with your doctor and go to the Fabry Registry page.

Have any of your family members been tested by a physician for Fabry disease?
88% said yes

On average, 5 family members have been tested for the disease. Answers ranged from 1 to 30 people per family.

How many of your family members are affected with Fabry disease?
On average, 4 people per family have Fabry disease. Answers ranged from 1 to 26 people per family.

These results show the importance of testing family members for Fabry disease, since Fabry disease is passed down in families.

Nearly everyone who responded (99%) say they have talked with a medical professional, such as a genetic counselor, about how Fabry disease is inherited. Most people who responded (90%) have talked with a medical professional about testing their family members for Fabry disease.

Genzyme can provide information on genetic counselors in your area. Call toll-free 800-745-4447 or email us.

Thank you to all who participated in this survey
Those people who shared their experiences by participating in this survey are helping the entire Fabry community better understand Fabry disease. Genzyme would like to thank each of you, and would like to encourage others to share their experiences, as well.

To participate in future surveys
If you are interested in participating in future surveys relating to Fabry disease, please contact Genzyme’s Medical Information department at 617-768-9000 or toll-free 800-745-4447 or by email.