Thiamine is an essential water-soluble vitamin that plays an important role in energy metabolism. Thiamine deficiency presents many challenges to clinicians, in part due to the broad clinical spectrum, referred to as thiamine deficiency disorders (TDDs), affecting the metabolic, neurologic, cardiovascular, respiratory, gastrointestinal, and musculoskeletal systems. Concurrent illnesses and overlapping signs and symptoms with other disorders can further complicate this. As such, TDDs are frequently misdiagnosed and treatment opportunities missed, with fatal consequences or permanent neurologic sequelae. In the absence of specific diagnostic tests, a low threshold of clinical suspicion and early therapeutic thiamine is currently the best approach. Even in severe cases, rapid clinical improvement can occur within hours or days, with neurological involvement possibly requiring higher doses and a longer recovery time. Active research aims to help better identify patients with thiamine-responsive disorders and future research is needed to determine effective dosing regimens for the various clinical presentations of TDDs. Understanding the clinical diagnosis and global burden of thiamine deficiency will help to implement national surveillance and population-level prevention programs, with education to sensitize clinicians to TDDs. With concerted effort, the morbidity and mortality related to thiamine deficiency can be reduced.

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硫胺素缺乏症：临床观点

硫胺素是一种必需的水溶性维生素，在能量代谢中起着重要作用。硫胺素缺乏给临床医生带来了许多挑战，部分原因是临床范围广泛，称为硫胺素缺乏症 (TDD)，影响代谢、神经、心血管、呼吸、胃肠道和肌肉骨骼系统。并发疾病和与其他疾病重叠的体征和症状会使这进一步复杂化。因此，TDD 经常被误诊和错过治疗机会，导致致命后果或永久性神经系统后遗症。在缺乏特定诊断测试的情况下，临床怀疑的低阈值和早期治疗性硫胺素是目前最好的方法。即使在严重的情况下，也可以在数小时或数天内迅速出现临床改善，神经系统受累可能需要更高的剂量和更长的恢复时间。积极的研究旨在帮助更好地识别硫胺素反应性疾病患者，未来的研究需要为 TDD 的各种临床表现确定有效的给药方案。了解硫胺素缺乏症的临床诊断和全球负担将有助于实施国家监测和人口层面的预防计划，并通过教育使临床医生对 TDD 敏感。通过共同努力，可以降低与硫胺素缺乏相关的发病率和死亡率。积极的研究旨在帮助更好地识别硫胺素反应性疾病患者，未来的研究需要为 TDD 的各种临床表现确定有效的给药方案。了解硫胺素缺乏症的临床诊断和全球负担将有助于实施国家监测和人口层面的预防计划，并通过教育使临床医生对 TDD 敏感。通过共同努力，可以降低与硫胺素缺乏相关的发病率和死亡率。积极的研究旨在帮助更好地识别硫胺素反应性疾病患者，未来的研究需要为 TDD 的各种临床表现确定有效的给药方案。了解硫胺素缺乏症的临床诊断和全球负担将有助于实施国家监测和人口层面的预防计划，并通过教育使临床医生对 TDD 敏感。通过共同努力，可以降低与硫胺素缺乏相关的发病率和死亡率。