AIP possibly linked to type of liver cancer in woman, 72: Case study
Cancer arose almost 30 years after her original porphyria diagnosis
A 72-year-old woman with acute intermittent porphyria (AIP) developed a type of liver cancer that arose nearly 30 years after her original porphyria diagnosis, a case study from Italy reported.
“Our case report strongly suggests that punctual and serial laboratory and instrumental surveillance is necessary for acute hepatic porphyria patients,” the researchers wrote, noting that these patients are known to be at an increased risk of developing primary liver cancer.
The team also acknowledged, however, that the woman’s cancer might be sporadic and not strictly related to her porphyria diagnosis.
The case study, “Intrahepatic Cholangiocarcinoma and Acute Intermittent Porphyria: A Case Report,” was published in the Journal of Clinical Medicine.
Cancer found in bile ducts in patient’s liver
AIP is the most common form of acute porphyria. It is characterized by the lack of an enzyme that’s required for the production of heme — a molecule that enables red blood cells to transport oxygen through the body. This enzyme deficiency is caused by the presence of certain mutations.
Consequently, heme precursor molecules called porphyrins accumulate to toxic levels in different organs, causing damage.
Like other acute porphyria types, AIP is characterized by sudden and potentially severe attacks that most often cause abdominal pain with nausea.
AIP patients also are at an increased risk of developing primary liver cancers, including a rare type of cancer in the bile ducts — the tiny tubes that carry bile through the digestive system.
In this report, researchers described the case of a woman with AIP who developed cancer in the bile ducts inside the liver more than years after her porphyria diagnosis.
The woman was diagnosed with AIP at age 43 based on laboratory evaluations. In December 2022, she underwent an MRI due to weight loss of more than 10 kg (around 22 pounds), left groin pain, and persistent lameness.
She had been hospitalized in the orthopedic unit of the Perrino Hospital, in Brindisi, for a fracture in the left thigh bone, called the femur, and evidence of bone cancer. The bone cancer was thought to have originated in the bile ducts.
The diagnosis was confirmed by further examinations. Due to abdominal pain, together with shortness of breath and confusion, the patient was transferred to a porphyria unit.
At admission, she showed pain upon deep palpation of the abdomen, and was found to have an enlarged spleen. Laboratory analysis showed an increase in porphyria features that were consistent with her progressive clinical and functional decline.
Genetic testing then confirmed the AIP diagnosis. Further examinations confirmed the diagnosis of bone cancer, probably caused by primary cancer in the bile ducts.
The woman’s clinical condition rapidly deteriorated due to septicemia — a life-threatening condition of blood poisoning by bacteria that’s part of the body’s response when infection damages tissues — caused by the bacteria Staphylococcus hominis.
The woman also experienced a series of additional complications, including thrombosis, acute kidney failure, and marked anemia that required blood transfusions.
Her serious condition did not allow her to be started on any cancer therapy, and she died shortly after.
As a therapeutic option for primary liver tumors in patients with acute hepatic porphyria, liver transplantation should be taken into account, especially considering that this therapeutic option will also allow for curing acute hepatic porphyria.
According to researchers, “the possible diagnosis of a primary liver tumor must be taken into consideration in any form of acute hepatic porphyria, especially in patients with unexplained liver function test derangement.”
The team also noted that this consideration should be extended to porphyria patients showing signs of acute liver disease, especially in those older than 50.
“As a therapeutic option for primary liver tumors in patients with acute hepatic porphyria, liver transplantation should be taken into account, especially considering that this therapeutic option will also allow for curing acute hepatic porphyria,” they wrote.