Israeli National Service for the Biochemical Diagnoses of Porphyrias, Rabin Medical Center, Beilinson Hospital, 49100, Petah Tikva, Israel.
Rheumatology Unit, Rabin Medical Center, Beilinson Hospital, Petah Tikva, Israel.
Intern Emerg Med. 2021 Jan;16(1):133-139. doi: 10.1007/s11739-020-02359-3. Epub 2020 May 6.
Acute hepatic porphyria (AHP) attacks begin with abdominal pain and can progress to severe life-threatening conditions. Early diagnosis and treatment may prevent these complications. We investigated the difference between the severity of porphyria attacks before and after porphyria diagnosis. A retrospective study including AHP patients hospitalized for an acute attack in Israel during a 15-year period. Diagnosis of an attack was based on typical clinical symptoms accompanied by at least one documented elevated urinary porphobilinogen above fourfold of normal values. The primary outcome was intensive care unit (ICU) admissions. Secondary outcomes included the length of hospital stay, severe hyponatremia, seizures, and psychiatric symptoms. 42 attacks in 9 patients were included. Most attacks occurred in women (78.6%) and in acute intermittent porphyria patients (76.2%). The mean age of attack was 26.5 (± 6.3) years. Attacks following porphyria diagnosis had a lower prevalence of ICU admission (3.3% versus 75.0%, p < 0.001), seizures (0% versus 50.0%, p < 0.001), psychiatric symptoms (23.3% versus 66.7%, p = 0.01), severe hyponatremia (16.7% versus 83.3%, p < 0.001), and median length of hospital stay (5 versus 11.0 days, p < 0.001). These results remained significant after simple univariate logistic regression for ICU admission [odds ratio (OR) 0.01, 95% confidence interval (CI) 0.00-0.12], prolonged hospital stay (OR 0.08, 95% CI 0.01-0.41), seizures or neurological symptoms (OR 0.06, 95% CI 0.01-0.30), and severe hyponatremia (OR 0.02, 95% CI 0.00-0.20). Previously diagnosed AHP patients have a significantly milder attack course as compared to previously undiagnosed patients. Family screening following sentinel cases might prevent severe AHP attacks.
急性肝性血卟啉症 (AHP) 发作始于腹痛，可能发展为严重危及生命的情况。早期诊断和治疗可能预防这些并发症。我们研究了在确诊血卟啉症前后发作的严重程度差异。这是一项回顾性研究，纳入了 15 年来在以色列因急性发作住院的 AHP 患者。发作的诊断基于典型的临床症状，伴有至少一次文档记录的尿液卟胆原升高四倍以上。主要结局是入住重症监护病房 (ICU)。次要结局包括住院时间、严重低钠血症、癫痫发作和精神症状。纳入了 9 名患者的 42 次发作。大多数发作发生在女性 (78.6%) 和急性间歇性卟啉症患者 (76.2%)。发作时的平均年龄为 26.5(±6.3)岁。确诊后发作的 ICU 入住率较低 (3.3%对 75.0%，p<0.001)、癫痫发作 (0%对 50.0%，p<0.001)、精神症状 (23.3%对 66.7%，p=0.01)、严重低钠血症 (16.7%对 83.3%，p<0.001)和中位住院时间 (5 对 11.0 天，p<0.001)。简单单变量逻辑回归分析显示，这些结果在 ICU 入住 [比值比 (OR) 0.01，95%置信区间 (CI) 0.00-0.12]、住院时间延长 (OR 0.08，95% CI 0.01-0.41)、癫痫发作或神经症状 (OR 0.06，95% CI 0.01-0.30)和严重低钠血症 (OR 0.02，95% CI 0.00-0.20)方面仍具有统计学意义。与之前未确诊的患者相比，先前诊断为 AHP 的患者发作过程明显较轻。对首发病例进行家族筛查可能预防严重 AHP 发作。
