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

International Medical Case Reports Journal, 2025 · DOI: https://doi.org/10.2147/IMCRJ.S486387 · Published: January 4, 2025

Neurology Genetics

Simple Explanation

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.

Study Duration

7.5 years

Participants

A 68-year-old man

Evidence Level

Level 4: Case Report

Key Findings

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.

Research Summary

This case report describes a 68-year-old male diagnosed with TTR-FAP with an uncommon presentation of spinal cord damage. The patient's symptoms included progressive limb weakness and numbness, autonomic dysfunction, and eventual heart failure. The diagnostic process was lengthy and involved ultrasound, MRI, pathological examination, and genetic testing. The TTR c.148G>A (p.Val50Met) mutation was identified, but the spinal cord involvement remained an unusual feature. Despite receiving standard treatment, the patient's condition deteriorated, leading to death from heart failure 7.5 years after initial symptom onset, highlighting the challenges in managing TTR-FAP with atypical presentations.

Practical Implications

Early Diagnosis

Clinicians should consider TTR-FAP in patients with peripheral neuropathy and unusual symptoms like spinal cord involvement.

Comprehensive Testing

Timely imaging, pathological, and genetic testing are crucial for accurate diagnosis and management of rare diseases like TTR-FAP.

Personalized Treatment

Treatment strategies for TTR-FAP need to be tailored to the individual patient, considering the severity and specific manifestations of the disease.