Familial amyloid polyneuropathy FAP

Diseases,

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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