Transthyretin-Related Familial Amyloidosis Polyneuropathy with Spinal Cord Damage: A Case Report

Transthyretin protein-related familial amyloidosis polyneuropathy (TTR-FAP) is a genetic disease caused by mutations in the TTR gene. It primarily affects the peripheral and autonomic nerves, and can involve organs like the heart, lungs, kidneys, and eyes. A 68-year-old man with a TTR gene mutation (c.148G>A, p.Val50Met) experienced a late-onset spinal cord injury. Despite treatment, he died 7.5 years after symptom onset due to heart failure. This case highlights the importance of considering rare diseases like TTR-FAP, especially when patients present with unusual symptoms such as spinal cord involvement. Early diagnosis through imaging, pathological, and genetic testing is crucial for better outcomes.

• 1
  The patient presented with a rare manifestation of TTR-FAP, specifically spinal cord damage, which is not commonly associated with the c.148G>A (p.Val50Met) mutation.
• 2
  Genetic testing confirmed a heterozygous TTR c.148G > A (p.Val30Met) mutation, which is common, but the spinal cord involvement made this case unusual.
• 3
  Despite standard treatments including conventional drugs, a cardiac pacemaker, and clofenadifen, the patient's condition worsened, and he ultimately died of heart failure.