AGel amyloidosis

What is AGel amyloidosis?

A rare, systemic amyloidosis characterized by a triad of ophthalmologic, neurologic and dermatologic findings due to the deposition of gelsolin amyloid fibrils in these tissues. Clinical manifestations include corneal lattice dystrophy, cranial neuropathy, especially affecting the facial nerve, bulbar signs, cutis laxa, increased skin fragility, and less commonly peripheral neuropathy and renal failure.

Other condition names

  • Familial amyloid polyneuropathy type IV
  • Familial amyloidosis, Finnish type
  • Gelsolin amyloidosis
  • Hereditary amyloidosis, Finnish type

Inheritance type

Autosomal dominant

Prevalence

  • Worldwide: Unknown

Age of Onset

  • Adult
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.