Miranda S, Le Besnerais M, Langlois V, Benhamou Y, Lévesque H
Département de médecine interne, CHU de Rouen, 1, rue de Germont, 76031 Rouen, France.
Département de médecine interne, CHU de Rouen, 1, rue de Germont, 76031 Rouen, France.
Rev Med Interne. 2017 Mar;38(3):176-180. doi: 10.1016/j.revmed.2016.08.012. Epub 2016 Sep 14.
Erythromelalgia is a rare intermittent vascular acrosyndrome characterized by the combination of recurrent burning pain, warmth and redness of the extremities. It is considered in its primary form as an autosomal dominant neuropathy related to mutations of SCN9A, the encoding gene of a voltage-gated sodium channel subtype Nav1.7. Secondary erythromelalgia is associated with myeloproliferative disorders, drugs (bromocriptine, calcium channel blockers), or clinical conditions such as rheumatic diseases or viral infection. Primary familial erythromelalgia include genetics and sporadic forms associated with small fibers neuropathy. Aspirin is a useful treatment of erythromelagia associated with myeloproliferative disorders. Treatment of primary erythromelalgia is difficult, individualized, with sodium channel blockers such as lidocaine, carbamazepine and mexiletine.
红斑性肢痛症是一种罕见的间歇性血管性肢端综合征,其特征为反复发作的灼痛、肢体发热和发红。其原发性形式被认为是一种与电压门控钠通道亚型Nav1.7的编码基因SCN9A突变相关的常染色体显性神经病变。继发性红斑性肢痛症与骨髓增殖性疾病、药物(溴隐亭、钙通道阻滞剂)或风湿性疾病或病毒感染等临床病症有关。原发性家族性红斑性肢痛症包括与小纤维神经病变相关的遗传型和散发型。阿司匹林是治疗与骨髓增殖性疾病相关的红斑性肢痛症的有效药物。原发性红斑性肢痛症的治疗困难且需个体化,可使用利多卡因、卡马西平和美西律等钠通道阻滞剂。