Overview
Familial amyloid polyneuropathy (FAP) is a hereditary disorder characterized by the deposition of transthyretin amyloid fibrils in various tissues, primarily affecting peripheral nerves and often leading to progressive neuropathy 1234.Diagnosis
Genetic Testing: Identify mutations in the TTR gene 2.
Electrophysiological Studies: Nerve conduction studies often show axonal damage 2.
Biopsy and Histology: Demonstration of amyloid deposits in affected tissues via Congo red staining 34.
Cardiac Monitoring: Assess for arrhythmias, especially post-liver transplantation 1.
Serum Biomarkers: Measure transthyretin levels, which may be decreased in FAP 3.Management
Liver Transplantation: Potentially curative for hereditary transthyretin amyloidosis 1.
Symptomatic Treatment: Pain management with analgesics; consider gabapentinoids or opioids 2.
Cardiac Monitoring: Regular assessment for arrhythmias, particularly in older patients post-transplant 1.
Supportive Care: Physical therapy, orthotic devices for motor deficits 2.Special Populations
Post-Liver Transplantation: Increased risk of cardiac arrhythmias, especially in patients over 40 years 1.
Elderly: Higher susceptibility to complications and progressive autonomic dysfunction 1.Key Recommendations
Consider Liver Transplantation Early for eligible patients to halt disease progression (Evidence: Strong 1).
Regular Cardiac Monitoring is essential, particularly focusing on arrhythmias post-transplantation (Evidence: Moderate 1).
Genetic Counseling should be provided to families for early identification and management (Evidence: Expert opinion 2).References
1 Hörnsten R, Suhr OB, Olofsson BO, Wiklund U. Arrhythmia--a pitfall in tests of cardiac autonomic function after liver transplantation for familial amyloidotic polyneuropathy: a long-term follow-up of Swedish patients. Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis 2012. link
2 Mohapatro AK, Jain S, Sarkar C, Dinda A, Roy S, Maheshwari MC. Familial amyloidotic polyneuropathy in an Indian family. The Journal of the Association of Physicians of India 1991. link
3 Maury CP, Teppo AM, Karinemi AL, Koeppen AH. Amyloid fibril protein in familial amyloidosis with cranial neuropathy and corneal lattice dystrophy (FAP type IV) is related to transthyretin. American journal of clinical pathology 1988. link
4 Koeppen AH, Mitzen EJ, Hans MB, Peng SK, Bailey RO. Familial amyloid polyneuropathy. Muscle & nerve 1985. link