Transthyretin-related familial amyloidosis polyneuropathy with spinal cord damage: A case report

Abstract

Abstract Transthyroxin protein-related familial amyloidosis polyneuropathy is an autosomal dominant genetic disease caused by TTR gene mutation. Peripheral and autonomic nerve damage is the main disease. With the progression of the disease, heart, lung, kidney, eye and other organs are often involved. TTR gene c.148G > A (P.Vir30met) mutation is more common among known mutations, but this type of FAP is rarely involved in the spinal cord. A case of TTR-FAP with spinal cord damage was reported in this paper. This case is A late-onset sporadic patient with peripheral neuropathy with typical sensorimotor and autonomic nerve damage, combined with multiple site damage of heart, kidney, heart failure, and spinal cord injury. Color cardiac ultrasonography showed typical FAP cardiomyopathy, and gene test showed heterozygous mutation of exon 2 c.148G > A (P.AL30met). TTR-FAP with myelopathy was diagnosed. TTR-FAP is a rare disease, especially when combined with spinal cord symptoms, it is difficult to diagnose early. Echocardiography is a non-invasive, repeatable method to evaluate cardiac characteristics and function of cardiac amyloidosis, and genetic testing plays a crucial role in diagnosis.