Sachau Juliane, Kersebaum Dilara, Baron Ralf, Dickenson Anthony H
Division of Neurological Pain Research and Therapy, Department of Neurology, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, 24105, Germany.
Department of Neuroscience, Physiology and Pharmacology, University College London, London, WC1E 6BT, UK.
J Pain Res. 2021 Mar 15;13:3539-3554. doi: 10.2147/JPR.S287603. eCollection 2020.
Pain is common in many different disorders and leads to a significant reduction in quality of life in the affected patients. Current treatment options are limited and often result in insufficient pain relief, partly due to the incomplete understanding of the underlying pathophysiological mechanisms. The identification of these pathomechanisms is therefore a central object of current research. There are also a number of rare pain diseases, that are generally little known and often undiagnosed, but whose correct diagnosis and examination can help to improve the management of pain disorders in general. In some of these unusual pain disorders like sodium-channelopathies or sensory modulation disorder the underlying pathophysiological mechanisms have only recently been unravelled. These mechanisms might serve as pharmacological targets that may also play a role in subgroups of other, more common pain diseases. In other unusual pain disorders, the identification of pathomechanisms has already led to the development of new drugs. A completely new therapeutic approach, the gene silencing, can even stop progression in hereditary transthyretin amyloidosis and porphyria, ie in pain diseases that would otherwise be rapidly fatal if left untreated. Thus, pain therapists and researchers should be aware of these rare and unusual pain disorders as they offer the unique opportunity to study mechanisms, identify new druggable targets and finally because early diagnosis might save many patient lives.
疼痛在许多不同疾病中都很常见，会导致受影响患者的生活质量显著下降。目前的治疗选择有限，且常常导致疼痛缓解不足，部分原因是对潜在病理生理机制的理解不完整。因此，确定这些病理机制是当前研究的核心目标。还有一些罕见的疼痛疾病，通常鲜为人知且常常未被诊断出来，但对其正确诊断和检查有助于总体上改善疼痛疾病的管理。在一些这类不寻常的疼痛疾病中，如钠通道病或感觉调制障碍，其潜在的病理生理机制直到最近才被揭示出来。这些机制可能成为药物靶点，也可能在其他更常见疼痛疾病的亚组中发挥作用。在其他不寻常的疼痛疾病中，病理机制的确定已经导致了新药的研发。一种全新的治疗方法——基因沉默，甚至可以阻止遗传性转甲状腺素蛋白淀粉样变性和卟啉病的进展，即在那些如果不治疗将迅速致命的疼痛疾病中。因此，疼痛治疗师和研究人员应该了解这些罕见和不寻常的疼痛疾病，因为它们提供了研究机制、确定新的可药物作用靶点的独特机会，最终还因为早期诊断可能挽救许多患者的生命。
