The Program for Lysosomal Storage Disorders at
Albany Medical Center
Fabry Disease Screening Questionnaire

Please complete and submit this questionnaire to Albany Medical Center to determine testing for Fabry Disease.



Name:


Date of Birth:


Street Address:


City:


State/Province:


Zip Code:

Country:


Phone (Home):


Phone (Work):

Email:


Have you been diagnosed with Fabry Disease?
Yes No Carrier

Has anyone in your family been diagnosed?
Yes No

If yes, what relationship?

Are you currently recieving enzyme replacement therapy for Fabry Disease?
Yes No

If yes, where are you recieving treatment?


Have you ever been affected by any of the following symptoms?
Select as many as apply:

Episodes of pain and or a burning sensation in the feet or hands

Inability to perspire

Intolerance to extreme changes in temperature

Recurrent fever for unknown reason

Growth Retardation

Delayed Puberty

Changes in the cornea and lens (i.e. cloudiness, whorl like structures), but unaffected vision (observed by an opthomologist)

Spotted rash in belt to knee area (blue, purple or red colored)

Stomach or intestinal pain after meals

Diarrhea after meals

20 or more bowel movements per day

Fatigue

Kidney Problems:
Proteinuria
High Blood Pressure
Uremia
Dialysis
Kidney Transplant

Heart Problems:
Heart Attack
Chest Pain
Heart Failure
Enlarged Heart
High Blood Pressure
Mitral Valve Insufficiency
Shortness of Breath
Congestive Heart Failure
Irregular Heart Rhythm
Left Ventricular Hypertrophy
Leg Swelling not related to low blood protein problem

Stroke

Hearing loss and ringing in the ears

Chronic Bronchitis

History of Osteoporosis

Have seen any of the following specialist?
Nephrologist
Cardiologist
Neurologist
Dermatologist
Rheumatologist
Pain Management Specialist
Gastroenterologist

How did you find our web site?
Surfing the web
Brochure
Magazine article
Newspaper article
Other

May we contact your physician to send information?
Yes No

Physician's Name:


Mailing Address:
     Street Address  
     City                      
     State, Zip            

Phone:

Fax:

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