University of Texas Medical Branch, Galveston, TX, USA.
Quest Diagnostics, Nichols Institute, San Juan Capistrano, CA, USA.
Am J Med Sci. 2021 Aug;362(2):113-121. doi: 10.1016/j.amjms.2021.03.004. Epub 2021 Apr 16.
Acute hepatic porphyria (AHP) is a group of rare, metabolic diseases where patients can experience acute neurovisceral attacks, chronic symptoms, and long-term complications. Diagnostic biochemical testing is widely available and effective, but a substantial time from symptom onset to diagnosis often delays treatment and increases morbidity. A panel of laboratory scientists and clinical AHP specialists collaborated to produce recommendations on how to enhance biochemical diagnosis of AHP in the USA. AHP should be considered in the differential diagnosis of unexplained abdominal pain, the most common symptom, soon after excluding common causes. Measurement of porphobilinogen (PBG) and porphyrins in a random urine sample, with results normalized to creatinine, is recommended as an effective and cost-efficient initial test for AHP. Delta-aminolevulinic acid testing may be included but is not essential. The optimal time to collect a urine sample is during an attack. Substantial PBG elevation confirms an AHP diagnosis and allows for prompt treatment initiation. Additional testing can determine AHP subtype and identify at-risk family members. Increased awareness of AHP and correct diagnostic methods will reduce diagnostic delay and improve patient outcomes.
急性肝性卟啉症（AHP）是一组罕见的代谢性疾病，患者可能会经历急性神经内脏发作、慢性症状和长期并发症。诊断性生化检测广泛可用且有效，但从症状发作到诊断的时间往往会延迟治疗并增加发病率。一组实验室科学家和临床 AHP 专家合作，提出了如何在美国提高 AHP 生化诊断的建议。在排除常见原因后不久，应在鉴别诊断不明原因腹痛（最常见的症状）时考虑 AHP。建议将随机尿液样本中的卟胆原（PBG）和卟啉的测量结果与肌酐标准化，作为 AHP 的有效且具有成本效益的初始检测方法。可以包括 delta-氨基酮戊酸（ALA）检测，但并非必需。收集尿液样本的最佳时间是在发作期间。大量 PBG 升高可确认 AHP 诊断，并可立即开始治疗。其他检测可确定 AHP 亚型并识别有风险的家庭成员。提高对 AHP 的认识和正确的诊断方法将减少诊断延迟并改善患者预后。
