ArticleOrphanet journal of rare diseases2026
Acute hepatic porphyria masquerading as familial Mediterranean fever: results of a cross-sectional porphobilinogen screening.
Article in Orphanet journal of rare diseases, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors.
Funding
Abstract
backgroundAcute hepatic porphyria (AHP) is a heme metabolism disorder characterized by acute abdominal pain episodes, with diagnostic delays and misdiagnosis due to heterogeneous presentations and symptom overlap with other diseases. Timely diagnosis is crucial as untreated attacks can lead to life-threatening complications such as hepatocellular carcinoma, chronic kidney disease, neuropathy and chronic pain. AHP often mimics various conditions such as lead poisoning, Guillain-Barré syndrome, vasculitis and surgical abdominal conditions, leading to diagnostic challenges and inappropriate treatment. Familial Mediterranean fever (FMF), another disease with recurrent abdominal pain as its main feature, has a similar symptomatology to AHP. The aim of this study was to investigate the prevalence of AHP in patients with clinically suspected FMF without a confirmatory genotype using cross-sectional urinary porphobilinogen (PBG) screening during abdominal pain episodes.
resultsThis cross-sectional study included a total of 104 patients under rheumatology follow-up for suspected FMF and two control groups (genetically confirmed FMF patients and healthy controls). Patients presenting with severe abdominal pain and had a spot urinary PBG/creatinine ratio of ≥ 10 µmol/mmol were diagnosed with AHP together with at least one clinical manifestation defined by the European Porphyria Network. Among 104 suspected-FMF patients, 5 (4.8%) were diagnosed with AHP, with a diagnostic delay of 16.4 ± 10.38 years. AHP patients frequently exhibited neurological (muscle weakness, paresthesia), psychiatric, and gastrointestinal (nausea, vomiting) symptoms. In likelihood ratio analyses, urinary incontinence, hypertension and neuropathic symptoms were strong discriminative indicators of AHP, whereas fever, arthritis, rash and chest pain were more indicative of FMF, aiding differential diagnosis.
conclusionsDue to diagnostic challenges and overlapping symptoms, AHP should be considered in the differential diagnosis of FMF, particularly in patients with neurological or systemic features. Urinary PBG screening and identifying predictive markers may improve diagnostic accuracy and early management of AHP.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.