Dusch M, Schmelz M
Klinik für Anästhesiologie und Intensivmedizin, Fachbereich Schmerzmedizin, Medizinische Hochschule Hannover, Carl-Neuberg-Straße 1, 30625, Hannover, Deutschland.
Abteilung Experimentelle Schmerzforschung, CBTM, Medizinische Fakultät Mannheim, Universität Heidelberg, Mannheim, Deutschland.
Schmerz. 2019 Oct;33(5):475-490. doi: 10.1007/s00482-019-00401-8.
Erythromelalgia is a rare disease that is associated with hemato-oncological diseases or after taking certain drugs and toxins, but it can also occur as an independent clinical picture, for example, due to mutations in the sodium channel Na1.7. Clinically, there is a characteristic triad of attack-like burning pain and skin redness in the area of the distal extremities, which can be alleviated by excessive cooling. The attacks are triggered by heat, exertion, and stress. The diagnosis is primarily made clinically and can be confirmed by genetic testing if a sodium channel Na1.7 mutation is present. Important differential diagnoses are complex regional pain syndrome, the non-freezing cold injury, and small fiber neuropathies. Therapy is multidisciplinary and has to be planned individually and include physical therapy and psychotherapy as well as drug therapy as integral components.
红斑性肢痛症是一种罕见疾病，与血液肿瘤疾病相关或在服用某些药物及接触毒素后出现，但也可作为一种独立的临床表现出现，例如，由于钠通道Na1.7发生突变。临床上，在远端肢体部位有典型的三联征，即发作性灼痛和皮肤发红，过度冷却可缓解。发作由热、运动和压力触发。诊断主要依靠临床做出，如果存在钠通道Na1.7突变，可通过基因检测确诊。重要的鉴别诊断包括复杂性区域疼痛综合征、非冻伤性冷损伤和小纤维神经病变。治疗是多学科的，必须个体化规划，包括物理治疗、心理治疗以及药物治疗等不可或缺的组成部分。
