Patient Case History
“I steadily became
severely underweight.”
The following case history chronicles a woman’s six-year journey to being
diagnosed with Pompe disease (also known as acid maltase deficiency).
In 1996, 20-year-old college student Hillary started losing weight,
despite eating normally. She was also experiencing fatigue and
shortness of breath, which she attributed to her weight loss. Both
her campus physician and her primary care physician could
not explain her weight loss, which gradually continued over the
next two years. After a year she consulted a gastroenterologist
(GI), who ordered a series of tests over a 5-year period,
including routine blood work, a colonoscopy, an endoscopy,
an enteroclysis study, and an abdominal CT scan. “I did have a
sensitive stomach, but we couldn’t figure out what was wrong,”
said Hillary. “He would do some tests and say, come back in six
months. He would do some more tests and say, everything is
normal, let’s see what happens in six more months.”
Management
Various drug therapies to manage IBS.
Six frustrating years
“It was obvious that something was wrong, because I was
eating and taking in more than enough calories to gain weight,
but I still lost weight. The weight loss was very gradual, but it was
significant over a few years,” said Hillary. She persistently told the
GI that she was not getting better. Hillary eventually dropped
to 95 pounds on her 5’10” frame. In 2001, her future husband’s
uncle — who is a GI — asked to see Hillary’s medical records.
She recalls he said, “Wow, your liver enzymes are really elevated
and that’s really odd,” said Hillary. He advised her to alert her GI
and ask him to order a liver biopsy.
Test RESULTS
All test results were normal.
Hillary was diagnosed with
irritable bowel syndrome (IBS).
Test RESULT
The liver biopsy was normal.
The resident who performed
the biopsy accidently nicked
a muscle. The pathologist
who read this biopsy slide
noted elevated glycogen in
the muscle cells and referred
Hillary to a neuromuscular
specialist.
More tests
The neuromuscular specialist ordered an EMG, which was
borderline abnormal. The presence of myotonic discharge in the
paraspinous muscle raised the possibility of metabolic myopathy,
and the neuromuscular specialist ordered a muscle biopsy in
Hillary’s quadriceps muscle.
New physicians
When Hillary’s initial neurologist left his practice before she had
a diagnosis, she traveled out of state to see another highly
experienced neuromuscular specialist. He suspected limb girdle
muscular dystrophy (LGMD), but was doubtful that she had
Pompe disease. Hillary returned home and met with a third
neuromuscular specialist who pursued a chemical diagnosis
of Pompe disease. Although the glycogen content was within
normal limits in the muscle biopsy, the liver biopsy indicated
elevated glycogen in the muscle around the liver. He ordered a
dried blood spot test to screen for Pompe disease, which came
back positive. He then ordered a cultured skin fibroblast assay to
confirm the diagnosis.
Test RESULT
The biopsy showed minimal
myopathy, normal glycogen
content,* no significant
inflammation, and rare fibers
notable for rimmed vacuoles
with internal granules —
results consistent with
vacuolar myopathy.
Test RESULT
Hillary was diagnosed with
Pompe disease.
Conclusion
Hillary did not have many of the common symptoms normally attributed
to Pompe disease. When she was finally diagnosed, her neurologist noted
that her clinical presentation was “not typical of Pompe disease.” This is not
surprising. Clinical manifestations, severity of signs and symptoms, rate of disease
progression, and age at symptom onset can vary widely with Pompe disease.1
You can screen for Pompe disease with a rapid and reliable blood test. 2
Ask your Genzyme representative about free testing options.
“When I look at the list of common symptoms for Pompe disease, I don’t have many of them.”
– Hillary
*Muscle biopsy results may be normal in adult patients with Pompe disease,3 so the
diagnosis may be missed.
References: 1. Winkel LP, Hagemans ML, van Doorn PA, et al. The natural course of non-classic Pompe’s disease;
a review of 225 published cases. J Neurol. 2005;252(8):875-884. 2. Goldstein JL, Young SP, Changela M, et al. Screening
for Pompe disease using a rapid dried blood spot method: experience of a clinical diagnostic laboratory. Muscle Nerve.
2009;40(1):32-36. 3. Winchester B, Bali D, Bodamer OA, et al. Methods for a prompt and reliable laboratory diagnosis of
Pompe disease: report from an international consensus meeting. Mol Genet Metab. 2008;93(3):275-281.
Lotronex is a registered trademark of Prometheus Laboratories Inc. Prilosec is registered trademark of AstraZeneca
Pharmaceuticals LP. Kaopectate is a registered trademark of The Upjohn Company.
For more information about Pompe disease,
visit www.pompe.com
©2011 Genzyme Corporation.
All rights reserved.
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