Department of Dermatology, Stanford University, Stanford, California2Columbia University College of Physicians and Surgeons, New York, New York.
Department of Dermatology, Stanford University, Stanford, California.
JAMA Dermatol. 2016 Nov 1;152(11):1258-1261. doi: 10.1001/jamadermatol.2016.2303.
Erythropoietic protoporphyria (EPP) is a rare hereditary disease of heme biosynthesis that manifests as severe photosensitivity and hepatotoxicity. There have been no effective treatments to date. Cimetidine has been shown to inhibit heme biosynthesis and results in symptomatic improvement in patients with acute intermittent porphyria (AIP) and porphyria cutanea tarda (PCT). There is only 1 report in the literature describing the use of cimetidine in the effective treatment of an adult patient with EPP.
To describe the successful use of cimetidine in pediatric patients with EPP.
DESIGN, SETTING, AND PARTICIPANTS: Retrospective medical record review carried out in a pediatric dermatology practice at an academic institution of patients diagnosed with EPP who were younger than 18 years and treated with systemic cimetidine in the past 3 years.
Systemic cimetidine.
Resolution of skin photodamage was evaluated on clinical examination. Subjective measures including tolerability to sun exposure, ability to participate in outdoor activities, and objective evaluation including serum erythrocyte protoporphyrin levels and liver function tests following treatment were assessed.
All 3 cases reported a rapid reduction in photosensitivity within weeks following initiation of systemic therapy. Their skin photodamage were also improved or resolved completely on subsequent examination. Laboratory study results also revealed reduction in serum erythrocyte protoporphyrin levels and improved liver function. None of the patients have reported any adverse effects of the systemic treatment after more than 2 years of treatment.
Children with EPP currently have limited therapeutic options and experience substantial disease impact on their quality of life. This is the first case series demonstrating that cimetidine, a readily available oral medication, can be a promising treatment for children with EPP.
红细胞生成性原卟啉症（EPP）是一种罕见的血红素生物合成遗传性疾病，表现为严重的光敏感性和肝毒性。迄今为止，尚无有效的治疗方法。西咪替丁已被证明可抑制血红素生物合成，并可改善急性间歇性卟啉症（AIP）和迟发性皮肤卟啉症（PCT）患者的症状。文献中仅有 1 篇报道描述了西咪替丁在有效治疗成人 EPP 患者中的应用。
描述西咪替丁在儿科 EPP 患者中的成功应用。
设计、地点和参与者：回顾性医学病历审查，在一家学术机构的儿科皮肤科诊所进行，该诊所对过去 3 年内接受过全身性西咪替丁治疗且年龄小于 18 岁的 EPP 患者进行了研究。
全身性西咪替丁。
临床检查评估皮肤光损伤的缓解情况。评估治疗后患者对阳光暴露的耐受性、参与户外活动的能力等主观指标，以及血清红细胞原卟啉水平和肝功能检查等客观指标。
所有 3 例患者在开始全身性治疗后的数周内迅速降低了光敏感性。他们的皮肤光损伤也在随后的检查中得到改善或完全缓解。实验室研究结果还显示血清红细胞原卟啉水平降低，肝功能改善。在超过 2 年的治疗后，所有患者均未报告全身性治疗的任何不良反应。
目前，EPP 患儿的治疗选择有限，生活质量受到严重影响。这是首例病例系列研究，表明西咪替丁，一种现成的口服药物，可能是治疗 EPP 儿童的一种有前途的治疗方法。
