Vossen Allard R J V, Boesten Lianne S M, Siersema Peter D, Nellen Ruud G L
IJsselland Ziekenhuis, Capelle aan den IJssel.
Ned Tijdschr Geneeskd. 2016;160:A9166.
The porphyrias are a clinically and genetically heterogeneous group of relatively rare metabolic diseases that result from disorders in the biosynthesis of haeme. Porphyria cutanea tarda (PCT) is the most common type, accounting for 80-90% of all porphyrias, and is essentially an acquired disease, although PCT can also occur on a familial basis. We describe a 71-year-old female and a 62-year-old male patient, both of whom had several risk factors for developing PCT, ranging from iron overload due to a mutation in the hereditary haemochromatosis protein (HFE) gene, alcohol use, smoking, and exogenous oestrogen, to persistent hepatitis C infection. The clinical relevance of the several diagnostic modalities is important in PCT. Diagnostic evaluation is important in order to confirm the diagnosis, but also to evaluate the treatment response in the context of long-term follow-up in the prevention of late complications of PCT, i.e. hepatocellular carcinoma.
卟啉病是一组临床和遗传异质性的相对罕见的代谢性疾病，由血红素生物合成紊乱引起。迟发性皮肤卟啉病（PCT）是最常见的类型，占所有卟啉病的80 - 90%，本质上是一种后天性疾病，尽管PCT也可呈家族性发病。我们描述了一名71岁女性和一名62岁男性患者，他们都有多种发生PCT的危险因素，从因遗传性血色素沉着症蛋白（HFE）基因突变导致的铁过载、饮酒、吸烟、外源性雌激素，到持续性丙型肝炎感染。几种诊断方法的临床相关性在PCT中很重要。诊断评估不仅对于确诊很重要，而且对于在长期随访中评估治疗反应以预防PCT的晚期并发症（即肝细胞癌）也很重要。
