Kaftory Ran, Edel Yonatan, Snast Igor, Lapidoth Moshe, Mamet Rivka, Elis Avishay, Hodak Emmilia, Levi Assi
Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.
National Service for the Biochemical Diagnoses of Porphyrias, Rabin Medical Center - Beilinson Hospital, Petah Tikva 4941492, Israel.
Mol Genet Metab Rep. 2021 Jan 13;26:100707. doi: 10.1016/j.ymgmr.2021.100707. eCollection 2021 Mar.
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 ( = .96); corresponding rates of cutaneous symptoms were 58% and 5% ( < .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 ( < .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.
遗传性粪卟啉病（HCP）和杂合性卟啉病（VP）被称为神经皮肤卟啉病（NCP）。关于它们全身表现的数据有限，且从未有人直接对两者进行过比较。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。我们进行了一项横断面调查。研究人群包括1988年至2019年间在以色列国家卟啉病生化诊断服务机构（INSP）诊断出的所有NCP患者。在2019年存活的83例NCP患者中，61例（73%）完成了调查，其中40例为VP患者，21例为HCP患者。VP组有63%的患者报告有全身症状，HCP组为62%（P = 0.96）；相应的皮肤症状发生率分别为58%和5%（P < 0.001）。我们发现全身症状和皮肤症状的发生之间没有关联。在有全身受累的患者中，腹痛是主要的全身症状，VP组中64%的患者和HCP组中69%的患者有腹痛；症状频率分析显示，VP组68%的患者全身症状（腹部、肌肉骨骼或神经精神症状）每天/每周都会出现，而HCP组患者每周出现的症状少于一种（P < 0.001）。这项全国性研究表明，与HCP患者相比，VP患者的疾病负担明显更重，因为其神经内脏和皮肤表现更为频繁。
