Hereditary coproporphyria (HCP) and variegate porphyria (VP) are referred to as neurocutaneous porphyrias (NCP). Data concerning their systemic presentation are limited and no direct attempt of comparison of the two has ever been made. Our aim was to describe the type and frequency of systemic manifestations of NCPs in Israeli patients. A cross-sectional survey was conducted. The study population included all patients with NCP diagnosed at the Israeli National Service for Biochemical Diagnoses of Porphyrias (INSP) between 1988 and 2019. Of the 83 patients with NCP who were alive in 2019, 61 (73%) completed the survey, 40 with VP and 21 with HCP. Systemic symptoms were reported by 63% of the VP group and 62% of the HCP group (p = .96); corresponding rates of cutaneous symptoms were 58% and 5% (p < .001). We found no association between the occurrence of systemic and cutaneous symptoms. Among patients with systemic involvement, abdominal pain was the predominant systemic symptom, found in 64% of the VP group and 69% of the HCP group; Analysis of symptom frequency showed that in 68% of the VP group, systemic symptoms (either abdominal, musculoskeletal or neuropsychiatric) occurred on a daily/weekly basis, whereas the HCP group experienced less than one symptom per week (p < .001). This nationwide study depicts a significantly heavier disease burden in VP patients compared to HCP owing to its more frequent neurovisceral and cutaneous manifestations.

遗传性结肠卟啉症（HCP）和杂色卟啉症（VP）被称为神经性皮肤卟啉症（NCP）。关于它们的系统表现的数据是有限的，并且从未进行过直接比较两者的尝试。我们的目的是描述以色列患者中NCP全身表现的类型和频率。进行了横断面调查。该研究人群包括1988年至2019年在以色列全国卟啉症生物化学诊断服务局（INSP）确诊的所有NCP患者。在2019年存活的83名NCP患者中，有61位（73％）完成了调查，其中40位患者HCP副总裁和21岁。VP组和HCP组分别有63％和62％的患者报告了全身症状（p  = .96）；相应的皮肤症状发生率分别为58％和5％（p <.001）。我们发现全身和皮肤症状的发生之间没有关联。在全身性受累患者中，腹痛是主要的全身症状，在VP组和HCP组中分别有64％和69％出现腹痛。症状频率分析表明，在VP组中68％的患者每天/每周出现全身症状（腹部，肌肉骨骼或神经精神病），而HCP组每周出现少于一种症状（p  <.001）。这项全国性的研究表明，与HCP相比，VP患者的疾病负担明显重于HCP，这是因为其神经内脏和皮肤表现更为频繁。