Misdiagnoses with anxiety delay correct ID of woman’s LOPD: Case
After genetic testing, patient treated for severe respiratory failure
A woman in her 30s with severe respiratory failure and muscle weakness due to late-onset Pompe disease (LOPD) repeatedly experienced misdiagnoses of anxiety attacks — with “multiple admissions in the psychiatric sector with anxiety disorder” — before genetic testing eventually led to a correct diagnosis, according to a Danish case report.
Clinicians reviewing her detailed medical history ultimately began to suspect a neurological disorder and ran a series of tests that ruled out more common conditions and confirmed LOPD. The woman was able to start on appropriate treatment, including enzyme replacement therapy (ERT), along with ongoing breathing support and intensive physical therapy.
“Due to the rarity of [Pompe] disease and its similar presentation to more common diseases, clinicians must be aware of and actively exclude neuromuscular disease when treating respiratory failure that persists despite relevant treatment,” the researchers wrote.
Further, the team added: “Any patient not responding to treatment should urge clinicians to re-evaluate their differential diagnoses.”
The study, “Late onset of Pompe’s disease: a rare cause of respiratory failure,” was published in the journal BMJ Case Reports.
Medical team suspected neurological disorder, began testing
A rare genetic condition, Pompe disease is caused by mutations in the GAA gene, which lead to a lack of functional acid alpha-glucosidase (GAA) enzyme. GAA breaks down a large sugar molecule called glycogen, so its deficiency causes glycogen to toxically accumulate and damage cells, especially muscle cells.
LOPD, a form of the disease in which symptoms usually emerge in childhood or adulthood, is characterized by muscle weakness and breathing problems. Because Pompe is rare, it’s easy for its symptoms to be misdiagnosed as other, more common issues.
The woman in this case report was admitted to the hospital for severe respiratory failure that required ongoing breathing support.
Her symptoms persisted despite antibiotics for potential pneumonia and treatment for a possible medication overdose. Meanwhile, the doctors performed a series of tests to explore why she might be in respiratory failure.
Blood levels of creatine kinase, a nonspecific marker of muscle damage, were elevated. The physicians ruled out common causes of respiratory failure, such as drug overdose, chest abnormalities, infections, or chronic obstructive pulmonary disease. There also was no evidence of autoimmune diseases, such as myasthenia gravis, that can cause respiratory muscle weakness.
The woman was underweight with visible signs of fatigue. Her medical history revealed that the patient had experienced symptoms of generalized muscle weakness since childhood.
More recently, she’d had increasing difficulties with daily activities like holding and lifting objects or climbing stairs. She’d also had worsening breathing problems that required her to sleep sitting up and were interfering with her ability to do her job.
Patient attributed misdiagnoses to her history of anxiety disorder
The woman had been admitted to the hospital several times over the previous few years for symptoms that included tremors, muscle fatigue, breathlessness, and palpitations. She also had experienced feelings of being near to fainting. The symptoms had been mainly misinterpreted as anxiety attacks, as she had a history of anxiety disorder.
“The patient sought help from healthcare professionals on several occasions … however, her symptoms were repeatedly put down to poor physical shape and anxiety attacks,” the researchers wrote, noting that antidepressants and anxiety medications had not helped.
In a patient’s perspective portion of the report, the woman wrote that, “throughout the entire process, I have consistently been met with a recurring feeling of not being taken seriously.” She said the doctors were “unresponsive” to her feelings about her own health.
“When you are mentally ill, apparently, you cannot be physically ill,” she noted.
During this hospitalization, a neurological exam showed generalized muscle weakness, and findings from electromyography, which assesses the health of muscles and the nerve cells that control them, were consistent with a muscle disease. A muscle tissue biopsy showed large deposits of glycogen, and GAA enzyme activity was unmeasurable, consistent with Pompe disease.
Genetic testing ultimately revealed a GAA mutation that confirmed LOPD.
The woman was in the hospital for two months overall, during which she received breathing support and extensive physical therapy to help her regain functional abilities.
After being discharged, she still had significant muscle weakness but could resume some daily activities. She could walk alone with a walking stick or crutch, but needed a wheelchair for longer distances.
When you are mentally ill, apparently, you cannot be physically ill. … It is now a struggle for me to get through various examinations and doctor visits, out of fear of being doubted, ignored, and not taken seriously again
Now, she receives daily respiratory support, along with physical and occupational therapy twice per week. She is unable to work, and receives daily home care and disability support. The woman recently started treatment with the ERT Nexviadyme (avalglucosidase alfa), sold as Nexviazyme in the U.S.
Given her experiences, the patient now feels hesitancy in her interactions with the healthcare system. She is seeking compensation for the repeated misdiagnoses.
“It is now a struggle for me to get through various examinations and doctor visits, out of fear of being doubted, ignored, and not taken seriously again,” she said.
The researchers noted that respiratory failure is a leading cause of death in LOPD. According to the team, an earlier diagnosis and appropriate treatment can help delay more serious breathing issues.
“Timely diagnosis is essential to facilitate multidisciplinary care … to improve rehabilitation and patients’ quality of life,” the researchers noted in a learning points section.
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