Tago Masaki, Sasaki Yosuke, Katsuki Naoko E, Hirata Risa, Aihara Hidetoshi, Komatsu Fumiya, Une Kazunobu, Miyagami Taiju, Suzuki Yudai, Kawamura Ren, Takeoka Hiroaki, Yasuoka Yuka, Shimizu Taro, Nabeshima Shigeki, Naito Toshio, Tazuma Susumu
Department of General Medicine, Saga University Hospital, Saga, Japan.
Department of General Medicine and Emergency Care, Toho University School of Medicine, Tokyo, Japan.
Int J Med Sci. 2025 Jun 20;22(12):3014-3021. doi: 10.7150/ijms.107826. eCollection 2025.
The prevalence of acute hepatic porphyria (AHP) in Japan is unknown. To diagnose AHP, identifying populations with a high prevalence of AHP is essential. We focused on non-specific abdominal pain (NSAP); however, the criteria for NSAP vary across studies. Therefore, this study aimed to investigate the diagnostic process of undiagnosed abdominal pain in general medicine clinical practice before proposing a definition of NSAP. In addition, we aimed to examine the potential AHP-related symptoms and implementation of AHP testing in these patients. AHP is a rare but fatal and treatable disease; hence, its early diagnosis is essential. This retrospective observational study was conducted in the general medicine departments of six medical institutions in Japan over a 3-year period beginning on April 1, 2019. Patients with abdominal pain who underwent abdominal imaging examinations were included. The primary outcome was to characterize patients with undiagnosed abdominal pain. In addition, this study aimed to identify situations where physicians attempt to diagnose AHP in patients with abdominal pain. Of the 1915 eligible participants, 317 (16.6%) had undiagnosed abdominal pain, and none of them were diagnosed with AHP in diagnosed abdominal pain. The median patient age was 55 years, and 134 patients were male. Multivariate logistic analysis revealed that hospitalization, dull pain, and the absence of depressive symptoms were associated with abdominal pain. All patients with undiagnosed abdominal pain demonstrated two to four indicative symptoms of AHP. However, none underwent urinalysis for a definitive diagnosis of AHP. Depressive symptoms and the absence of dull pain were associated with undiagnosed abdominal pain. Hospitalization for examination contributed to improving the diagnosis of abdominal pain. Despite the presence of indicative symptoms, urinary markers for AHP diagnosis were not measured. Establishing a diagnostic strategy for undiagnosed abdominal pain would provide better opportunities for patients with NSAP and could help shorten the diagnostic journey for those with rare diseases such as AHP.
日本急性肝卟啉病（AHP）的患病率尚不清楚。要诊断AHP，识别AHP患病率高的人群至关重要。我们关注非特异性腹痛（NSAP）；然而，不同研究中NSAP的标准各不相同。因此，本研究旨在调查普通内科临床实践中未确诊腹痛的诊断过程，然后提出NSAP的定义。此外，我们旨在检查这些患者中潜在的AHP相关症状以及AHP检测的实施情况。AHP是一种罕见但致命且可治疗的疾病；因此，早期诊断至关重要。 这项回顾性观察研究于2019年4月1日开始的3年期间，在日本六家医疗机构的普通内科进行。纳入了接受腹部影像学检查的腹痛患者。主要结果是对未确诊腹痛患者进行特征描述。此外，本研究旨在确定医生试图诊断腹痛患者是否为AHP的情况。在1915名符合条件的参与者中，317人（16.6%）有未确诊的腹痛，且在确诊的腹痛患者中无人被诊断为AHP。患者的中位年龄为55岁，男性患者134人。多因素逻辑分析显示，住院、钝痛和无抑郁症状与腹痛相关。所有未确诊腹痛的患者均表现出两到四种AHP的指示性症状。然而，无人接受尿液分析以明确诊断AHP。抑郁症状和无钝痛与未确诊的腹痛相关。住院检查有助于改善腹痛的诊断。尽管存在指示性症状，但未检测AHP诊断的尿液标志物。为未确诊的腹痛建立诊断策略将为NSAP患者提供更好的机会，并有助于缩短AHP等罕见病患者的诊断过程。
