Familial amyloidosis of the Finnish type (FAF). A clinical study of 30 patients

Acta Neurol Scand. 1992 Oct;86(4):346-53. doi: 10.1111/j.1600-0404.1992.tb05099.x.


The clinical findings of familial amyloidosis of the Finnish type (FAF) were recorded in a series of 30 patients. The onset was in the 3rd or 4th decade with slow progression so that the majority was in good health still in the 7th decade. Decreased vision and corneal lattice dystrophy together with blepharochalasis were common. Signs of cranial neuropathy especially affecting the facial nerve were found in all and peripheral polyneuropathy mainly affecting the vibration and touch senses in 26 patients. Hypotrichosis, tongue and skin changes were also characteristic. Amyloid was found in all skin, sural nerve and muscle biopsies. FAF thus shows a triad of typical neurological, ophthalmological and dermatological manifestations distinct from other amyloidoses.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Amyloidosis / genetics*
  • Amyloidosis / pathology
  • Biopsy
  • Chromosome Aberrations / genetics
  • Chromosome Disorders
  • Cranial Nerve Diseases / genetics
  • Cranial Nerve Diseases / pathology
  • Female
  • Finland
  • Genes, Dominant / genetics
  • Humans
  • Male
  • Middle Aged
  • Neurologic Examination
  • Peripheral Nervous System Diseases / genetics*
  • Peripheral Nervous System Diseases / pathology
  • Phenotype
  • Rectum / pathology
  • Skin / pathology
  • Sural Nerve / pathology