TürkiyeDiagnosis and screening
In Istanbul, acute porphyria found in 5 of 104 patients with abdominal pain thought to have FMF
A study published in a journal and reviewed by independent scientists. Even so, a single study is not conclusive; it needs to be replicated.
A total of 104 patients followed for suspected FMF, but whose genetic test did not confirm it, were screened with a urine test during abdominal pain. Acute hepatic porphyria was identified in five of them. In these patients, diagnosis had been delayed by 16 years on average. Muscle weakness, numbness, high blood pressure, and urinary incontinence pointed to porphyria. Fever and joint swelling, on the other hand, pointed more toward FMF.
What does it mean for patients and families?
Porphyria should also be considered in recurrent abdominal pain. A simple urine test during an attack can help with diagnosis.
Source
Scientific paper: Acute hepatic porphyria masquerading as familial Mediterranean fever: results of a cross-sectional porphobilinogen screening. Orphanet Journal of Rare Diseases, 2026. DOI: 10.1186/s13023-026-04308-3 · PubMed 41857576
The source page was opened and read on October 7, 2026. Summary prepared by the Doktorclub editorial team and translated from Turkish; it has not yet been reviewed by a physician (a scientific board is being set up).
This page is translated from the Turkish original.
Related disease: Acute intermittent porphyria (AIP)
This page reports a development; it is not a treatment recommendation. Your doctor decides whether a treatment is right for you.