Real World Analysis of Symptoms, Diagnostic Patterns, and Provider Perspective on Acute Hepatic Porphyrias
Notice bibliographique
Résumé
Introduction: Acute hepatic porphyrias (AHPs) are rare genetic diseases caused by mutations of enzymes involved in hepatic heme synthesis. Neurotoxic heme intermediates, aminolevulinic acid (ALA) and porphobilinogen (PBG), accumulate and can cause potentially life-threatening attacks and chronic symptoms. The study objective was to understand physician experiences diagnosing AHPs and to characterize the AHP patient population in a real-world setting. Methods: Physicians (n=175) from the US (29%), EU-5 (57%), Canada (9%), and Japan (6%) who actively managed or treated AHP patients (with and without recurrent attacks) in the year prior were recruited from 9/2017-10/2017 to complete an online survey collecting information on demographics, familiarity with AHPs and diagnostic tests, perspective on symptoms important to diagnosis, referral patterns, and treatment preferences. Subsequently, physicians reviewed 1-4 of their AHP patients' charts (n=546; 32% US), sharing data on anonymized patient demographics, medical history, number of porphyria attacks, and symptoms. Results: Physicians had a mean of 18 years of experience, 51% worked in academic settings, and the most common specialty was gastroenterology (25%). Symptoms considered informative for AHP diagnosis included abdominal pain (88%), red/dark urine (75%), muscle weakness (63%), vomiting (62%), fatigue (59%), and nausea (57%). AHP diagnostic tests considered informative included ALA in urine (73%) and PBG in urine (68%); however, other nonspecific tests were also commonly considered informative. Among charts reviewed, patients' mean age was 40 years, 53% were female, and 82% had acute intermittent porphyria (AIP). Initially, 26% of AHPs were misdiagnosed and 31% were diagnosed correctly (43% did not know this information). Most common misdiagnoses were nonspecific abdominal pain (32%), irritable bowel syndrome (27%), depression (25%), and fibromyalgia (25%). Patients had a mean of 1.8 attacks and 1.1 hospitalizations in the past year. Most common chronic symptoms reported between attacks were abdominal pain (50%), fatigue (36%), and nausea (32%). Conclusion: This research revealed there may be underdiagnoses or misdiagnoses due to common symptomology associated with AHPs and/or lack of understanding of appropriate laboratory and genetic testing procedures. Among patients diagnosed with AHPs, both acute attacks as well as chronic symptoms were reported indicating AHPs have both acute and chronic manifestations.
Récupéré en direct depuis OpenAlex et désinversé. Les résumés ne sont pas conservés dans cette base de données : les index inversés représentent 8,6 Go des 9,3 Go de texte de la base, et le serveur dispose de 13 Go libres.
Comment cette classification a été obtenuedéplier
Prédiction distillée sur la base complète
Imitation des enseignantsNi prévalence calibrée, ni vérité terrain. Validation humaine à venir. Apprise à partir de 10 348 étiquettes directes de Codex et de 10 348 étiquettes directes de Gemma. Le mode candidate est l'union des têtes enseignantes seuillées; le consensus est leur intersection. Ces sorties portent le statut machine_predicted_unvalidated et ne sont ni des étiquettes humaines ni des étiquettes directes de modèles de pointe.
Scores Codex et Gemma par catégorie
| Catégorie | Codex | Gemma |
|---|---|---|
| Métarecherche | 0,000 | 0,000 |
| Méta-épidémiologie (sens strict) | 0,000 | 0,000 |
| Méta-épidémiologie (sens large) | 0,000 | 0,000 |
| Bibliométrie | 0,000 | 0,000 |
| Études des sciences et des technologies | 0,000 | 0,001 |
| Communication savante | 0,000 | 0,000 |
| Science ouverte | 0,000 | 0,000 |
| Intégrité de la recherche | 0,000 | 0,000 |
| Charge utile insuffisante (le modèle a refusé de juger) | 0,000 | 0,000 |
Scores machine (provisoires)
Les deux têtes enseignantes du modèle étudiant, lues sur ce travail. Un score ordonne la base pour la relecture; il n'affirme jamais une catégorie, et le statut de validation accompagne chaque rangée tel quel.
Scores de référence d'un modèle non mature (critères de maturité non atteints, 7 itérations). Un score ordonne; il n'affirme jamais une catégorie.
score_only:v0-immature-baseline · tel quel depuis la passe de notation : score_only signifie que le nombre peut ordonner les travaux, et qu'aucune étiquette de catégorie n'en découleClassification
machine, non validéePrédiction automatique; un appel candidat d’une seule tête enseignante, pas un consensus.
Le détail, modèle par modèle et score par score, se trouve en fin de page sous « Comment cette classification a été obtenue ».