第十一届北京罕见病学术大会暨2023京津冀罕见病学术大会征文(095)

1Department of Neurology， Peking University First Hospital

2Beijing Key Laboratory of Neurovascular Disease Discovery

3Key Laboratory of for Neuroscience， National Health Commission of the People’s Republic of China， Peking University

Xujun Chu¹， Kang Du¹， Yuwei Tang¹， He Lv¹， Wei Zhang^1，2，

Zhaoxia Wang^1，2，3， Yun Yuan^1，2，3， Lingchao Meng^1，2

Objects: Hereditary transthyretin amyloidsis (hATTR) is a condition caused by transthyretin (TTR) gene mutation and characterized by extracellular deposition of amyloid fibrils in tissue， especially in the peripheral nervous system， skeletal muscle and heart. Amyloid myopathy can be the common manifestation of hATTR. In this study， we aimed to explore the characteristics of muscle magnetic resonance imaging (MRI) of lower extremities in hATTR patients.

Methods: A retrospective study of 20 patients with hATTR was conducted at our hospital from July 2020 to August 2021. MRI of lower limbs were performed in 20 patients and MRI of thigh muscle were performed in 16 patients.

Results: The mean ages of 20 hATTR patients were 44.2 years (range 26-60 years) whose mean disease duration of weakness was 23.3±23.0 (range 0-84 months) months. 11/20 patients initially developed paresthesia of lower limbs， followed by blurred vision， alternating diarrhea and constipation， sexual dysfunction， orthostatic hypotension and carpal tunnel syndrome. All patients presented with polyneuropathy， 18/20 patients manifested with weakness of lower limbs. TTR gene screening revealed pathogenic mutation in TTR gene in all patients. Muscle MRI revealed fatty infiltrate predominantly in the posterior compartment of thigh muscles and soleus. The fatty infiltration scores at calf level were more higher than those at the thigh level in 17 patients， and more severe fatty infiltration of muscles at thigh level in 3 patients.

Conclusions: Selective fatty infiltration of lower extremities in hATTR characterized a TTR amyloid myopathy rather than a length dependent pattern of polyneuropathy.