Baumann Katrin, Kauppinen Raili
Helsinki University Hospital, Department of Medicine, Finland.
Helsinki University Hospital, Department of Obstetrics and Gynecology, Finland.
Mol Genet Metab Rep. 2022 Feb 2;30:100842. doi: 10.1016/j.ymgmr.2022.100842. eCollection 2022 Mar.
Acute hepatic porphyria includes four inherited disorders caused by partial deficiencies of enzymes related to the heme biosynthesis. Clinical manifestations include acute attacks, occurring mainly among female patients. This study describes the diversity of acute symptoms, changes in triggering factors and life expectancy among female patients during the past five decades.
107 Finnish female patients were enrolled into a retrospective, longitudinal study during 2015. Clinical, biochemical and genetic data was obtained from the medical reports, registry data and a questionnaire designed for the study. Causes of death were studied in additional 32 female patients.
Of the 43 patients with hospitalization, 33% had non-complicated, 35% prolonged and 28% severe attacks with no correlation with the disease-causing mutation. Of the deceased patients, 31% died of an acute attack during 1957-1979. Thereafter the incidence and severity of acute attacks have decreased substantially. 55% of the subjects reported acute symptoms (dysautonomia and mental symptoms) without hospitalization, 29% had porphyria symptoms >10 times, and 23% within the last year. Despite 22% of the female patients had died of primary liver cancer, the life expectancy increased more than 10 years during the follow-up, and did not differ from the normal population at present.
The incidence of acute attacks requiring hospitalization has decreased, but more than half of the female patients reported acute symptoms affecting their well-being. Symptoms are currently triggered by hormonal changes and weight loss emphasizing the importance of early recognition and active management to avoid disease exacerbation. Death due to primary liver cancer is common and should be screened regularly.
急性肝卟啉病包括四种由血红素生物合成相关酶部分缺乏引起的遗传性疾病。临床表现包括急性发作，主要发生在女性患者中。本研究描述了过去五十年来女性患者急性症状的多样性、触发因素的变化以及预期寿命。
2015年，107名芬兰女性患者纳入一项回顾性纵向研究。从医疗报告、登记数据和为本研究设计的问卷中获取临床、生化和基因数据。另外32名女性患者的死因也进行了研究。
43名住院患者中，33%为无并发症发作，35%为延长发作，28%为严重发作，与致病突变无相关性。在已故患者中，31%在1957 - 1979年期间死于急性发作。此后，急性发作的发生率和严重程度大幅下降。55%的受试者报告有未住院的急性症状（自主神经功能障碍和精神症状），29%有卟啉病症状超过10次，23%在过去一年中有症状。尽管22%的女性患者死于原发性肝癌，但随访期间预期寿命增加了10年以上，目前与正常人群无差异。
需要住院治疗的急性发作发生率有所下降，但超过一半的女性患者报告有影响其健康的急性症状。目前症状由激素变化和体重减轻引发，强调早期识别和积极管理以避免疾病加重的重要性。原发性肝癌导致的死亡很常见，应定期进行筛查。
