Researchers warn of severe pancreatitis during acute AIP attacks
Case report details rare pancreatic complication seen in young man
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A rare complication of acute intermittent porphyria (AIP) was identified in a man in his 20s whose worsening abdominal pain during an acute porphyria crisis was found to be caused by necrotizing pancreatitis, an advanced and severe stage of pancreatic inflammation, according to a case report from India.
Despite treatment, the young man required prolonged supportive care, the researchers noted.
“This case highlights the importance of recognizing pancreatic complications in AIP, as timely diagnosis and multidisciplinary management are crucial for favorable outcomes in this rare but serious association,” the team wrote.
The case report, “Acute Necrotizing Pancreatitis Secondary to Acute Intermittent Porphyria: A Rare Clinical Association,” was published in the ACG Case Report Journal.
Similar to other types of porphyria, AIP affects the body’s ability to make heme, the molecule needed for oxygen transport in the body. In AIP, this occurs because mutations in the HMBS gene reduce the activity of an enzyme called porphobilinogen deaminase. As a result, heme-building blocks such as porphobilinogen (PBG) accumulate to toxic levels, primarily affecting the nervous system.
Abdominal pain common in AIP, but not pancreatitis
AIP symptoms usually appear suddenly and include severe abdominal pain together with nausea, vomiting, and diarrhea or constipation. Because the nervous system is involved, people may also experience confusion, hallucinations, or muscle weakness. In more severe cases, patients may have trouble breathing.
Although abdominal pain is a hallmark symptom of AIP, the researchers noted that involvement of the pancreas — which aids in digestion and helps regulate blood sugar — is very rarely reported.
Now, however, doctors in India described the case of a 23-year-old man with AIP who developed an unusual and severe form of pancreatitis during an acute attack.
The man sought hospital treatment after several days of diarrhea, abdominal discomfort, and worsening shortness of breath. At admission, his blood oxygen level was low, and his breathing was accelerated. A physical exam revealed crackling sounds in both lungs and tenderness in the upper abdomen.
Despite normal chest and abdominal imaging, tests indicated signs of respiratory failure, and he was placed on noninvasive ventilation. Medications were given to manage his abdominal pain.
By the next day, he developed confusion and visual hallucinations. Because of a family history of porphyria and the combination of gastrointestinal, neurological, and respiratory symptoms, doctors tested his urine, which turned positive for PBG and confirmed a diagnosis of porphyria.
The man was given an intravenous, or into-the-vein, glucose infusion to provide the high-carbohydrate support needed to suppress the production of toxic heme precursors. Antibiotics were also started due to concerns about a possible gastrointestinal infection. His breathing gradually improved, and by day nine, he no longer needed ventilation.
A few days later, his abdominal pain suddenly worsened and began radiating to his back. Blood tests showed a sharp rise in pancreatic enzymes, and a CT scan revealed a swollen, inflamed pancreas with changes in the surrounding fat — findings consistent with acute pancreatitis.
Routine causes such as gallstones, alcohol use, high levels of certain fats in the blood, medication reactions, and viral infections were excluded.
6 months after long hospitalization, man remained symptom-free
Despite supportive care, the pancreatitis progressed. A follow-up CT scan showed a large collection of dead, or necrotic, tissue and fluid in the pancreas that extended into surrounding areas of the abdomen, a condition called necrotizing pancreatitis.
Doctors placed a drain through the stomach and another through the skin to remove the infected material. Over the following weeks, the persistent fluid drainage prompted the doctors to perform an endoscopic procedure, which revealed a pancreatic duct leak — meaning that digestive fluid was leaking out of the main pancreatic tube instead of flowing normally into the intestine, due to damage caused by inflammation.
Once the drain was repositioned to allow the fluid to empty safely into the stomach, the leak slowly healed, and the drainage decreased. Genetic testing later identified a disease-causing mutation in the HMBS gene, confirming an underlying diagnosis of AIP.
Persistent or recurrent abdominal pain during an AIP attack should prompt early evaluation for pancreatitis to prevent diagnostic delay and complications.
After nearly 10 weeks of hospitalization, the man was discharged with instructions to maintain a high-carbohydrate diet and avoid known porphyria triggers. By two months, imaging showed full resolution of the pancreatic collections, and by six months, he remained symptom-free.
The researchers say the man’s case highlights the need to identify early on any pancreatic complications in people experiencing acute attacks.
“Persistent or recurrent abdominal pain during an AIP attack should prompt early evaluation for pancreatitis to prevent diagnostic delay and complications,” the researchers wrote. “Awareness of this unusual association is essential for timely diagnosis, rational management, and avoidance of therapeutic pitfalls in patients with porphyria crises.”
