Unexplained abdominal pain and low sodium reveal AHP diagnosis
Case report shows importance of early suspicion and testing
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A young woman in Portugal was diagnosed with acute hepatic porphyria (AHP) after developing persistent abdominal pain and vomiting along with severe hyponatremia — dangerously low sodium levels in the blood — a case report shows.
Doctors ruled out more common causes before targeted testing confirmed the diagnosis, highlighting how difficult AHP can be to recognize and the need for greater awareness to avoid delays in treatment.
“Acute hepatic porphyria should be considered in young patients with unexplained abdominal pain, vomiting, and severe hyponatremia,” the researchers wrote, adding that “early suspicion and targeted testing are essential for diagnosis and timely therapy.”
What is acute hepatic porphyria
The case report, “Hyponatremia and Abdominal Pain: A Case Report of Acute Hepatic Porphyria,” was published in Cureus.
AHP refers to a group of genetic disorders that disrupt the body’s ability to produce heme, a molecule that enables red blood cells to carry oxygen. When this process is impaired, heme-building molecules — including delta-aminolevulinic acid (ALA) and porphobilinogen (PBG) — can build up in the body.
People with AHP experience sudden symptom attacks that vary in severity and may include intense abdominal pain and vomiting. Hyponatremia is also a common and potentially serious complication. It often occurs due to a condition called syndrome of inappropriate antidiuretic hormone secretion (SIADH), in which the body retains too much water, diluting sodium levels in the blood.
Because these symptoms are nonspecific and can resemble common conditions such as stomach infections, diagnosis is often delayed. Guidelines emphasize considering AHP in young patients with unexplained abdominal pain, particularly when severe hyponatremia is present.
In this report, researchers described the case of a 23-year-old woman whose diagnosis was prompted by persistent abdominal pain, vomiting, and severe hyponatremia.
A young woman’s diagnostic journey
The woman, who had no significant medical history, came to the emergency department after six days of worsening abdominal pain, frequent vomiting, muscle aches, and near-fainting episodes (lipothymia).
Blood tests showed low sodium levels. She was treated for a suspected stomach infection and discharged, but returned the next day as her symptoms continued. Repeat tests revealed severe hyponatremia. Additional lab results showed diluted blood and concentrated urine — findings consistent with SIADH.
She also showed signs of muscle injury and elevated liver enzymes, but imaging scans of her abdomen did not reveal a clear cause for her pain.
She was admitted to the intensive care unit for close monitoring and further testing. Doctors started treatment with a concentrated salt solution given intravenously, or into the vein, to raise her sodium to safe levels.
Because her symptoms could not be explained by more common conditions, doctors began to suspect AHP. They performed a rapid urine screening test for porphyria, which came back positive. Confirmatory testing later showed markedly high levels of ALA and PBG in her urine, establishing the diagnosis.
“The interval between sample collection during hospitalization and result confirmation after discharge illustrates a common challenge in the management of this disease,” the researchers wrote.
Managing AHP after diagnosis
The woman gradually improved and was discharged after 10 days. She was advised to avoid known porphyria triggers, such as certain medications, alcohol, and prolonged fasting.
Despite these precautions, she experienced another attack that required hospitalization and treatment with intravenous hemin, marketed as Panhematin in the U.S. and Normosang in Europe, which eased her symptoms.
“This case highlights the diagnostic challenge of acute porphyria, a disease often overlooked due to its nonspecific presenting symptoms,” the researchers wrote, emphasizing “the need for increased clinical awareness of this disease to avoid diagnostic delays and complications, and to prompt the initiation of targeted treatment.”
