Familial amyloidosis, Finnish type, also called hereditary gelsolin amyloidosis or AGel amyloidosis, is an amyloid condition with a number of associated cutaneous and neurological presentations. It arises from the aberrant proteolysis of a mutated form of plasma gelsolin, and the mutations are inherited in an autosomal dominant fashion. It was first described in 1969 by the Finnish ophthalmologist Jouko Meretoja. The condition is uncommon, with roughly 400 to 600 cases described in Finland and about 15 elsewhere. This entry records how the condition is classified and described, and is not medical advice.
Facts
Classification
ICD-10 ChapterIV: Endocrine, Nutritional and Metabolic Diseases 1 Communicable or Non-communicable First Described Prevalence Band Causative Agent
Causative Agent (category) Sources
1. Familial Amyloidosis, Finnish Type (Wikipedia)
Lead paragraph
First described in 1969 by the Finnish ophthalmologist Jouko Meretoja
Lead paragraph [causative-agent-category]
Mutations are inherited in an autosomal dominant fashion.
Lead paragraph [body-system]
a number of associated cutaneous and neurological presentations
lead sentence 1
Familial Amyloidosis, Finnish Type (FAF), also called hereditary gelsolin amyloidosis and AGel amyloidosis (AGel), is an amyloid condition with a number of associated cutaneous and neurological presentations deriving from the aberrant proteolysis of a mutated form of plasma gelsolin.
Lead: disease category
Familial Amyloidosis, Finnish Type (FAF), also called hereditary gelsolin amyloidosis and AGel amyloidosis (AGel), is an amyloid condition with a number of associated cutaneous and neurological presentations deriving from the aberrant proteolysis of a mutated form of plasma gelsolin.
View the Source2. Orphadata (Orphanet): Orphadata epidemiology for ORPHA:85448 AGel amyloidosis
Orphadata (Orphanet)Prevalence, WorldwideQuote, Prevalence, Worldwide
"PrevalenceClass": "\u003c1 / 1 000 000", "PrevalenceGeographic": "Worldwide"
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