Varada Neilmegh, Tun Kyaw Min, Chang Mark J, Bomberger Shana, Calagari Randy
Internal Medicine, Kirk Kerkorian School of Medicine at the University of Nevada, Las Vegas, Las Vegas, USA.
Primary Care, VA Southern Nevada Healthcare System, Las Vegas, USA.
Cureus. 2023 Jul 3;15(7):e41299. doi: 10.7759/cureus.41299. eCollection 2023 Jul.
Hereditary hemochromatosis is an autosomal recessive condition with incomplete penetrance that is most commonly caused by a mutation in the HFE gene. Hereditary hemochromatosis can remain asymptomatic in some patients until triggered by certain events. Porphyria cutanea tarda is a condition that can lead to iron overload due to defective synthesis of heme and can cause the onset of adult-onset hereditary hemochromatosis. Herein, we present a case where a 77-year-old man presented with painful blisters on the sun-exposed areas of his hands and was diagnosed with porphyria cutanea tarda. Further testing for mutations in the HFE gene given elevated ferritin was performed and returned positive, which confirmed the diagnosis of adult-onset hereditary hemochromatosis. The patient received serial therapeutic phlebotomy for iron overload and adopted lifestyle modifications such as avoiding sun exposure of upper extremities. The patient's blisters and laboratory iron panel parameters improved with continued phlebotomy. Therapeutic phlebotomy has been demonstrated to be an effective first-line therapy in patients with dual diagnosis. Our case highlights that cutaneous symptoms due to porphyria cutanea tarda may be the first presenting symptom in patients with underlying hemochromatosis.
遗传性血色素沉着症是一种常染色体隐性疾病，具有不完全外显率，最常见的病因是HFE基因突变。遗传性血色素沉着症在一些患者中可能一直无症状，直到由某些事件触发。迟发性皮肤卟啉症是一种由于血红素合成缺陷可导致铁过载并可引发成人型遗传性血色素沉着症的疾病。在此，我们报告一例77岁男性患者，其双手暴露于阳光下的部位出现疼痛性水疱，被诊断为迟发性皮肤卟啉症。鉴于铁蛋白升高，对HFE基因进行了进一步的突变检测，结果呈阳性，这证实了成人型遗传性血色素沉着症的诊断。该患者接受了一系列针对铁过载的治疗性放血，并采取了如避免上肢阳光暴露等生活方式的改变。随着持续放血，患者的水疱及实验室铁指标参数均有改善。治疗性放血已被证明是双重诊断患者有效的一线治疗方法。我们的病例强调，迟发性皮肤卟啉症引起的皮肤症状可能是潜在血色素沉着症患者的首发症状。
