目的:探讨转甲状腺素蛋白淀粉样变性(ATTR)的临床诊断、治疗及预后。方法:回顾性分析安徽医科大学第一附属医院2022年收治的1例ATTR患者的临床资料,并进行相关文献复习。结果:患者,男性,43岁,初期表现为间断腹泻,随后因双下肢麻木乏力行神经活检提示神经淀粉样变性,现因双下肢浮肿及尿失禁就诊,经综合检查考虑淀粉样变性多系统累及,完善心脏磁共振、99mTc-PYP核素显像及基因检测,确诊ATTR,现予以氯苯唑酸治疗,随访截至2024年12月,患者病情稳定。结论:ATTR为淀粉样变性中的罕见类型,病例少,病情进展快,临床表现缺乏特异性,虽有针对性的治疗药物,但需做到早期诊断及治疗,总体预后不佳。Abstract: To explore the clinical diagnosis, treatment, and prognosis of transthyretin amyloidosis (ATTR). Method: A retrospective analysis was conducted on the clinical data of a patient with ATTR admitted to the First Affiliated Hospital of Anhui Medical University in 2022, and relevant literature was reviewed. Result: The patient, a 43-year-old male, initially presented with intermittent diarrhea. Subsequently, nerve biopsy was performed due to numbness and weakness in both lower limbs, indicating neuroamyloidosis. The patient is now seeking medical attention due to edema and urinary incontinence in both lower limbs. After comprehensive examination, it was considered that amyloidosis involves multiple systems. After completing cardiac magnetic resonance imaging, 99mTc PYP nuclear imaging, and genetic testing, the patient was diagnosed with ATTR and is now receiving treatment with chlorpromazine. Follow-up until December 2024 shows that the patient’s condition is stable. Conclusion: ATTR is a rare type of amyloidosis with few cases, rapid disease progression, and lack of specificity in clinical manifestations. Although there are targeted therapeutic drugs, early diagnosis and treatment are necessary, and the overall prognosis is poor.
