Hift Richard J, Meissner Peter N
From Lennox Eales Porphyria Laboratories, Department of Medicine and South African Medical Research Council, University of Cape Town, Liver Research Center, Cape Town, South Africa.
Medicine (Baltimore). 2005 Jan;84(1):48-60. doi: 10.1097/01.md.0000152454.56435.f3.
Four forms of porphyria may present clinically with the acute attack, an episodic, severe, and potentially life-threatening manifestation characterized by abdominal and neurologic symptoms. We describe our experience with 112 consecutive attacks observed and treated in 25 patients with the 2 most common forms of acute porphyria in Cape Town, South Africa; 25 attacks in 10 patients with variegate porphyria and 87 attacks in 14 patients with acute intermittent porphyria. The remaining patient experienced more than 100 sequential, severe, and poorly remitting attacks, which are not included in our analysis. In our population, the relative risk of an acute attack in acute intermittent porphyria compared with that in variegate porphyria was 14.3 (confidence intervals, 6.3-32.7). Patients with variegate porphyria were significantly older (median age at first attack, 30 yr) than those with acute intermittent porphyria (median age at first attack, 23.5 yr; p < 0.0001), and demonstrated an equal sex ratio, whereas the male:female ratio in acute intermittent porphyria was 2:12 (p < 0.0001). There was a significant difference in the incidence of factors precipitating the acute attack. Drug exposure was a frequent precipitant of the acute attack in variegate porphyria, whereas hormonal factors were more important in acute intermittent porphyria (p < 0.00001). Patients with acute intermittent porphyria also showed a trend to earlier and more frequent recurrent acute attacks following the initial admission. Mean urine precursor levels, blood pressure, pulse rate, and heme arginate requirement were all significantly higher in patients with acute intermittent porphyria. No significant difference in the frequency of serious complications or in outcome could be shown. We describe our experience with treatment with heme arginate, and provide evidence that heme arginate results in a prompt and statistically significant improvement in symptoms. The incidence of serious complications and mortality in this series was low, confirming a trend to an increasingly good prognosis for patients with acute porphyria who receive expert treatment.
四种形式的卟啉病在临床上可能表现为急性发作，这是一种发作性、严重且可能危及生命的表现，其特征为腹部和神经系统症状。我们描述了在南非开普敦对25例患有两种最常见急性卟啉病形式的患者中观察到并治疗的112次连续发作的经验；10例杂合性卟啉病患者中有25次发作，14例急性间歇性卟啉病患者中有87次发作。其余患者经历了100多次连续、严重且缓解不佳的发作，这些未纳入我们的分析。在我们的人群中，急性间歇性卟啉病急性发作的相对风险与杂合性卟啉病相比为14.3（置信区间，6.3 - 32.7）。杂合性卟啉病患者比急性间歇性卟啉病患者明显年龄更大（首次发作的中位年龄，30岁）（急性间歇性卟啉病首次发作的中位年龄，23.5岁；p < 0.0001），且性别比例相等，而急性间歇性卟啉病的男女比例为2:12（p < 0.0001）。引发急性发作的因素发生率存在显著差异。药物暴露是杂合性卟啉病急性发作的常见诱因，而激素因素在急性间歇性卟啉病中更为重要（p < 0.00001）。急性间歇性卟啉病患者在首次入院后还表现出更早且更频繁复发急性发作的趋势。急性间歇性卟啉病患者的平均尿前体水平、血压、脉搏率和精氨酸血红素需求均显著更高。严重并发症的发生率或结局方面未显示出显著差异。我们描述了使用精氨酸血红素治疗的经验，并提供证据表明精氨酸血红素能使症状迅速且在统计学上有显著改善。本系列中严重并发症和死亡率的发生率较低，证实了接受专业治疗的急性卟啉病患者预后越来越好的趋势。
