Muñoz-Santos Carlos, Guilabert Antonio, Moreno Nemesio, To-Figueras Jordi, Badenas Celia, Darwich Esteve, Herrero Carmen
Medicine (Baltimore). 2010 Mar;89(2):69-74. doi: 10.1097/MD.0b013e3181d50928.
Porphyria cutanea tarda is the most frequent porphyria and occurs in both sporadic and familial forms. We conducted the current study in a series of 152 consecutive patients with porphyria cutanea tarda attending the Porphyria Unit of the Hospital Clinic of Barcelona, Spain, to update the clinical manifestations of the disease and to study the sex differences, the proportion of familial forms, and the role of different risk factors in this population. Patients were classified as familial and sporadic cases according to erythrocyte uroporphyrinogen-decarboxylase activity and uroporphyrinogen-decarboxylase genotyping. In our cohort, skin fragility and blisters on the hands were the most frequent clinical manifestations. Women more frequently had facial hypertrichosis (84.8%; p = 0.004), affected areas other than the hands and face (33.3%; p = 0.008), and pruritus (27.3%; p = 0.041) compared with men. Of our patients, 11.8% did not present the typical clinical onset of the disease, with facial hypertrichosis and hyperpigmentation the more frequent complaints in these cases. Analysis of risk factors showed a high prevalence of hepatitis C virus infection (65.8%) and alcohol abuse (59.9%), both being more frequent in men (p < 0.001). Hepatitis C virus infection was the only risk factor that showed differences between the sporadic and familial forms in the logistic regression model (odds ratio, 0.05; 95% confidence interval, 0.006-0.46). In conclusion, atypical forms of presentation of porphyria cutanea tarda should be considered in order to prevent delayed diagnosis. We note the sustained role of hepatitis C virus infection in the precipitation of sporadic porphyria cutanea tarda. Therefore, in countries with a high prevalence of hepatitis C virus infection, the absence of such infection in a patient with porphyria cutanea tarda may suggest a possible familial case.
迟发性皮肤卟啉症是最常见的卟啉症，有散发性和家族性两种形式。我们对西班牙巴塞罗那医院临床卟啉症科收治的152例连续的迟发性皮肤卟啉症患者进行了本研究，以更新该疾病的临床表现，并研究性别差异、家族性形式的比例以及不同风险因素在该人群中的作用。根据红细胞尿卟啉原脱羧酶活性和尿卟啉原脱羧酶基因分型，将患者分为家族性和散发性病例。在我们的队列中，手部皮肤脆弱和水疱是最常见的临床表现。与男性相比，女性更常出现面部多毛（84.8%；p = 0.004）、手部和面部以外的受累部位（33.3%；p = 0.008）以及瘙痒（27.3%；p = 0.041）。我们的患者中，11.8%没有出现该疾病的典型临床起病，这些病例中面部多毛和色素沉着是更常见的主诉。风险因素分析显示丙型肝炎病毒感染（65.8%）和酒精滥用（59.9%）的患病率很高，两者在男性中更为常见（p < 0.001）。在逻辑回归模型中，丙型肝炎病毒感染是散发性和家族性形式之间唯一显示出差异的风险因素（比值比，0.05；95%置信区间，0.006 - 0.46）。总之，应考虑迟发性皮肤卟啉症的非典型表现形式，以防止诊断延迟。我们注意到丙型肝炎病毒感染在散发性迟发性皮肤卟啉症发病中的持续作用。因此，在丙型肝炎病毒感染患病率高的国家，迟发性皮肤卟啉症患者没有这种感染可能提示为家族性病例。
