A case report suggests that rapid and severe damage to peripheral nerves, which transmit sensory and motor information from the brain and spinal cord to the rest of the body, is a rare sign of acute intermittent porphyria.
According to the researchers, early detection of AIP is critical in preventing serious nerve damage.
The study was published in the Journal of International Medical Research and was titled "Severe neuropathic attack in a woman with acute intermittent porphyria: a case report."
Due to mutations in the HMBS gene, AIP is characterized by low levels of the enzyme hydroxymethylbilane synthase.
Porphyrins accumulate inside cells, including nerve cells, due to this deficiency.
AIP attacks affect the peripheral nervous system in 10 to 40% of patients, with the majority of them being mild.
Researchers in China described the case of a woman who developed severe and rapidly progressing damage to her peripheral nerves, a condition known as peripheral neuropathy, after being diagnosed with AIP.
Creatinine and urea nitrogen levels in the blood were high, indicating kidney problems.
The cerebrospinal fluid, which surrounds the brain and spinal cord, contained no autoreactive antibodies indicative of peripheral neuropathy.
Electromyography, a test for muscle and nerve health, revealed signs of peripheral nerve damage.
Guillain-Barré syndrome, a neurological disease in which the body's immune system attacks nerve cells, was diagnosed and treatment began at this point.
An examination of the cranial nerves revealed changes affecting the nose and lips, as well as the patient's inability to close her eyelids.
The researchers wrote that "between 10% and 40% of patients with porphyria may exhibit symptoms of peripheral nerve damage during an AIP attack," but that "such patients are usually mildly affected, and it is rare for a patient to experience severe peripheral nerve damage." She had no more AIP attacks by the time the study ended, but she still had severe neurological damage.
"Despite the appearance of symptoms of common diseases in the ICU, AIP should be considered when a patient presents with severe progressive neuropathy," the researchers wrote.
They concluded, "Early diagnosis can prevent serious peripheral nerve damage, prevent recurrent episodes, and even save lives."
Read the original article "Acute Intermittent Porphyria Could Cause Severe Neuropathy" at https://porphyrianews.com/2021/02/26/severe-neuropathy-may-indicate-acute-intermittent-porphyria-case-report/
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