Cerebrovascular disease in Fabry

1. Cerebrovascular
Disease in Fabry
The Case of Ms. D
By Nancy Smith

2. Cerebrovascular Disease in
Fabry – Ms. D
 52 yo female, with lifelong acroparesthesias and
hypohidrosis, found to have bilateral corneal whorls by
ophthalmologist at age 22; with likely diagnosis of Fabry.
She began vegan diet to help protect her kidneys at that
time.
 For the past 15 years, Ms. D has had chronic diarrhea with
5-15 watery stools per day, accompanied by colicky lower
abdominal pain and urgency.
 Ms. D has angiokeratomas on bilateral thighs, lips and oral
mucosa. She also has tinnitus in both ears.

3. Cerebrovascular Disease in
Fabry – Ms. D
 Ms. D had become used to her symptoms and was working
FT until she had a minor stroke in 6/09 resulting in
paresthesia of left cranial nerve V. At that time, she
underwent genetic testing, which was diagnostic for Fabry
disease.
 ERT with non-FDA approved Replagal (due to ERT shortage
of FDA-approved Fabrazyme) was initiated in 3/10 through
6/12, when she started on Fabrazyme.
 Since 2010, Ms. D has had 6 other cerebrovascular events
with no sequelae until her most recent one in 10/15, which
has resulted in right-sided weakness.

4. Cerebrovascular Disease in
Fabry – Ms. D
 Ms. D is currently receiving OT and PT and has improved
her ability to walk with a walker to being able to walk with a
cane; and her handwriting is becoming legible.
 Cardiac involvement is minimal with stable aortic stenosis.
Ms. D has not shown any signs of renal involvement until
8/15, when a 24-hour urine collection revealed slightly
increased levels of protein and creatinine.
 Since starting ERT, her GI dysmotility has decreased to 3
watery stools per day every other week and she is able to
sweat.