Synonyms:
a.k.a. Familial amyloidotic polyneuropathy FAP, a.k.a. Hereditary amyloid neuropathy
Diagnosis:
Biopsy plus genetic testing
Types of familial amyloid polyneuropathy:
- Transthyretin amyloidosis
- Apolipoprotein A-I
- Gelsolin
Transthyretin amyloidosis a.k.a. amyloidogenic mutated transtyretin ATTR: TTR gene mutation, protein= transthyretin, autosomal dominant
Clinical features:
Polyneuropathy:
- Autonomic, symmetric mainly sensory polyneuropathy (pain and temperature dysfunction >proprioception/vibration)
Genetics:
Transtyretin ATTR: TTR gene mutation, protein= transthyretin, Autosomal dominant, chr. 18,
Findings on investigations:
Cardiac denervation by:
- Cardiac SPECT 123I –labeled MIBG, reduced uptake
- PET scan
Treatment:
- Transthyretin amyloidosis, consider liver transplant
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