AIP Patient, 21, Successfully Treated Despite Delays Due to Misdiagnosis
Case study: woman wrongly diagnosed with Guillain-Barré disease
A 26-year-old woman with acute intermittent porphyria (AIP) was successfully treated with hemin and is recovering, despite delays due to an initial misdiagnosis with the rare neurological disorder Guillain-Barré syndrome, according to a case report.
The patient ended up on invasive ventilation at a hospital in Ecuador before being airlifted to the U.S., where she ultimately was correctly diagnosed with AIP. Researchers in Miami treated the woman with hemin — an approved medicine for AIP sold under the brand name Panhematin — which improved her condition.
“Although [a] few cases of AIP masquerading as [Guillain-Barré syndrome] have been previously described, many reported fatal outcomes due to diagnosis and hemin administration delay,” the researchers wrote, adding, “Fortunately, despite [the] delay, this patient received adequate tailored treatment.”
The report, “Time is of the Essence: Using Extended Hemin Treatment for a Case of Severe Acute Intermittent Porphyria,” was published in ACG Case Reports Journal.
A hard-to-diagnose disorder
Neurological symptoms also may occur as a result of AIP — and these may include seizures and autonomic dysfunction. With autonomic dysfunction, the nerves that control automatic body functions, such as breathing and blood pressure, become damaged and do not work properly. Because these bodily systems operate independent of conscious thought, such impairments can potentially be fatal.
Here, scientists at the University of Miami Miller School of Medicine described the case of a young woman who went to a hospital in Ecuador with abdominal pain, intermittent diarrhea and vomiting, loss of appetite, and generalized weakness.
She had undergone surgery to remove a cyst in her ovary just over a week prior, and she also had recently started on oral birth control. The day before she was admitted to the hospital, she experienced a seizure that resulted in her losing consciousness.
After her hospital admission, the patient was started on anticonvulsants to prevent further seizures.
A battery of clinical tests was performed. Results of an electromyogram — a test that evaluates the electric activity of muscles in response to nerve stimulation — suggested polyneuropathy, a condition in which the nerves that are found outside the brain and spinal cord are not functioning correctly. This led to a suspicion of Guillain-Barré, known as GBS, which is characterized by polyneuropathy.
Nine days after the woman was admitted to the hospital, her polyneuropathy worsened. Clinicians started her on a treatment for GBS called intravenous immunoglobulin. However, her condition continued to worsen, to the point that she required intubation on a ventilator in order to breathe.
“Without improvement on intravenous immune globulin, her symptoms raised concern for porphyria. Diagnosis was limited because porphyria biochemical testing is not available in Ecuador,” the researchers wrote. After she was intubated, the woman was airlifted to the researchers’ facility in Miami.
Because porphyria was already suspected, the patient was immediately started on hemin infusions, while further laboratory tests were carried out. Ultimately, these tests confirmed the diagnosis of AIP.
After five days of treatment, the patient’s neurological symptoms started to ease. Over the next two weeks, she slowly regained strength in her extremities, and was able to be safely taken off the ventilator.
“The patient continues to receive weekly hemin with improvement in pain and is now able to stand from sitting and walk short distances without assistance,” the researchers wrote.
They also noted that the patient is in the process of switching to preventive treatment with Givlaari (givosiran), in an effort to reduce the risk of side effects from long-term hemin use. Such side effects can include iron overload.
The team noted that “time is of the essence” in treating AIP, noting that the disorder “can be severely debilitating and even fatal if not diagnosed and treated in a timely fashion.”