For 10 years, I lived with a diagnosis of inflammatory
Transcription
For 10 years, I lived with a diagnosis of inflammatory
Patient Case History “For 10 years, I lived with a diagnosis of inflammatory myopathy.” The following case history chronicles a woman’s 10-year journey to being diagnosed with Pompe disease (also known as acid maltase deficiency). One morning in 2000, 23-year-old Monique woke up with a headache that was so severe she could not go to work. It persisted for nearly two weeks, despite over-the-counter painkillers. She was examined by a general practitioner at her HMO, who prescribed painkillers to help her sleep and suggested an eye examination. The results were normal. Multiple diagnoses Monique’s headaches continued and she insisted that something was wrong. Each time she visited her HMO she saw a different physician. Their diagnoses included caffeine withdrawal and cluster and stress headaches. Monique underwent a headache assessment, followed a “white diet,” and even checked her home and office for gas leaks. The headaches continued. A neurologist at her HMO ordered an MRI and CT scan. Follow-up Additional testing was ordered to try to determine the true cause of Monique’s symptoms. Several months later, blood testing revealed an elevated serum CK, and Monique was referred to a rheumatologist. TEST RESULTS The imaging tests ruled out a brain tumor. 1 The rheumatologist’s discovery Monique was rising to leave the rheumatologist’s office after her physical exam. He asked her to sit back down in the chair, cross her arms over her chest, and stand up again. “I couldn’t get up,” she said. “My muscle weakness was so slight that I did not even realize that I was using my arms to compensate for my weakening leg muscles.” The rheumatologist ordered Monique’s first muscle biopsy. Management: steroid regimen “They put me on steroids, which weren’t doing anything for me,” Monique said. “All I was getting was side effects, like insomnia and weight gain, so I asked to be taken off of them. My thinking at the time was that inflammatory myopathy was not lifethreatening and I could just make do.” TEST RESULT Monique received a diagnosis of inflammatory myopathy. Lost decade With a diagnosis of inflammatory myopathy, Monique was led to believe that the way to manage her condition was with physical therapy and steroids. “I went about my life and was slowly getting weaker,” she said. “But the progression was so slow that I was able to make adjustments.” In 2008, while getting groceries out of her car, she lost her balance and fell, hitting her head on the ground. “I didn’t have enough muscle strength to keep myself up,” she explained. After a trip to the emergency room for a concussion, she was referred by her GP to another neurologist. The mystery continues The neurologist Monique was referred to prescribed a six-day regimen of a low-dose steroid. When there was no improvement, he ordered a second muscle biopsy under anesthesia and an EMG. Next steps The neurologist suspected muscle disease and referred Monique to a neuromuscular specialist. 2 TEST RESULTS The muscle biopsy revealed that Monique did not have inflammatory myopathy. The EMG ruled out nerve disease. Steady decline After the second muscle biopsy, Monique’s headaches continued with a vengeance. She was convinced that she was getting worse. When she complained to the neuromuscular specialist, he told her, “I’ve never seen a muscle disease with related headaches. You need to see a headache specialist.” He ordered one test at a time over nine months, including a second EMG and a third muscle biopsy. Monique also complained that her chest felt “bound” and that she was coughing persistently. Without a referral from her physician, she went on her own to a pulmonologist who said, “I’ve never seen respiratory diseases connected with muscle diseases.” Monique was also continuing to see a neurologist during this time to try to get some relief for her headaches. Management The pulmonologist prescribed a high-dose steroid inhaler, which provided some relief. The neurologist prescribed painkillers for Monique’s escalating headaches and her leg, arm, and back muscles, which were now beginning to ache. TEST RESULTS The muscle biopsy was inconclusive.* The second EMG was negative for nerve disease. It may be Pompe disease By 2009, Monique’s headaches and sensitivity to light and sound became so debilitating that she took a permanent medical leave from her job. She was housebound. In December of that year, she visited the Mayo Clinic in Rochester, Minnesota, where a neurologist ordered another EMG and a cardiac work-up. TEST RESULTS The EMG and cardiac work-up were normal. The neurologist suspected Pompe disease, based on Monique’s medical history, combined with the elevated serum CK, inconclusive test results, and pulmonary problems. He ordered an enzyme assay and reviewed the results from Monique’s previous muscle biopsies. In January 2010, Monique was diagnosed with Pompe disease. *Muscle biopsy results may be normal in adult patients with Pompe disease,1 so the diagnosis may be missed. 3 Conclusion While Monique’s story may sound atypical, there is no singular story for patients with Pompe disease. Clinical manifestations, severity of signs and symptoms, rate of disease progression, and patient age at symptom onset can vary widely.2 As illustrated here, some of the common signs and symptoms are similar to those of other neuromuscular and metabolic disorders. You can screen for Pompe disease with a a rapid and reliable blood test. 3 Ask your Genzyme representative about free testing options. “Any of the Pompe disease literature that you read now, you see that morning headaches are very common.” – Monique References: 1. Winchester B, Bali D, Bodamer OA, et al; Pompe Disease Diagnostic Working Group. 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. 2. 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. 3. 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. For more information about Pompe disease, visit www.pompe.com ©2011 Genzyme Corporation. All rights reserved. POMP-US-P264f-11-11