The incidence of inherited porphyrias in Europe
The incidence of inherited porphyrias in Europe
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DOI：
10.1007/s10545-012-9544-4
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发表时间：
2013-09-01
影响因子：
4.2
通讯作者：
Deybach, Jean-Charles
中科院分区：
文献类型：
--
作者：
Elder, George;Harper, Pauline;Deybach, Jean-Charles
对卟啉症患病率的回顾性估计已有报道，但尚未对其发病率进行大规模的前瞻性研究。欧洲卟啉症网络在3年的时间里前瞻性地收集了新诊断的有症状的遗传性卟啉症患者的数量（来自11个国家的335名患者）。患病率由发病率和平均病程计算。研究了急性肝性卟啉症患者肝细胞癌（HCC）的发生率和复发性急性卟啉症患者的患病率。除瑞典（0.51;95% CI: 0.28-0.86）外，所有国家的症状性急性间歇性卟啉症（AIP）发生率相似（每年0.13 /百万人；95% CI: 0.10 - 0.14）。症状性AIP：多样性卟啉症：遗传性卟啉症的发病率比为1.00:0.62:0.15。AIP患病率（5.4 /百万人；95% CI: 4.5-6.3）约为先前报道的一半。红细胞生成性原生卟啉症（EPP）的患病率在各国之间不太统一，在一些国家超过了以前的估计。在急性卟啉症患者中报告了14例新的HCC病例（11例来自瑞典）。急性卟啉症复发患者67例（静脉血栓3例，静脉血栓64例，女性53例，男性11例）。AIP患者发生复发性急性发作的估计百分比为3- 5%。总之，有症状的急性卟啉症的患病率可能正在下降，这可能是由于治疗方法的改进，而EPP的患病率可能正在上升，这可能是由于诊断的改进以及对其作为光敏性原因的认识的提高。
Retrospective estimates of the prevalence of porphyrias have been reported but there has been no large scale prospective study of their incidence. The European Porphyria Network collected information prospectively over a 3 year period about the number of newly diagnosed symptomatic patients with an inherited porphyria (335 patients from 11 countries). Prevalence was calculated from the incidence and mean disease duration. The incidence of hepato-cellular carcinoma (HCC) in acute hepatic porphyria and the prevalence of patients with recurrent acute attacks of porphyria were also investigated. The incidence of symptomatic acute intermittent porphyria (AIP) was similar in all countries (0.13 per million per year; 95 % CI: 0.10 - 0.14) except Sweden (0.51; 95 % CI: 0.28-0.86). The incidence ratio for symptomatic AIP: variegate porphyria: hereditary coproporphyria was 1.00:0.62: 0.15. The prevalence of AIP (5.4 per million; 95 % CI: 4.5-6.3) was about half that previously reported. The prevalence of erythropoietic protoporphyria (EPP) was less uniform between countries and, in some countries, exceeded previous estimates. Fourteen new cases of HCC (11 from Sweden) were reported in patients with acute porphyria. Sixty seven patients (3 VP; 64 AIP: 53 females, 11 males) with recurrent attacks of acute porphyria were identified. The estimated percentage of patients with AIP that will develop recurrent acute attacks was 3-5 %. In conclusion, the prevalence of symptomatic acute porphyria may be decreasing, possibly due to improved management, whereas the prevalence of EPP may be increasing due to improved diagnosis and its greater recognition as a cause of photosensitivity.