title: Incidence of hereditary amyloidosis and autoinflammatory diseases in Sweden: endemic and imported diseases.
abstract: BACKGROUND
  Amyloidoses are a heterogeneous group of progressive diseases caused by tissue deposition of misfolded proteins. According to the International Classification of Diseases, hereditary amyloidosis is divided into neuropathic and non-neuropathic forms. In Sweden, neuropathic heredofamilial amyloidosis has been identified as familial amyloidotic polyneuropathy (FAP), a fatal disease that is treated by liver transplantation. The non-neuropathic form includes familial autoinflammatory diseases. As no incidence data on these hereditary diseases are available and as even diagnostic data on non-neuropathic forms are lacking we determined the incidence of these diseases and characterized non-neuropathic conditions.
  
  
  METHODS
  Patients were identified using data from the Swedish Hospital Discharge Register and from the Outpatient Register for 2001 through 2008. All patients discharged with hereditary amyloidosis diagnoses were included and standardized incidence rates were calculated.
  
  
  RESULTS
  Non-neuropathic disease was diagnosed in 210 patients, with an incidence of 2.83 per million. FAP was diagnosed in 221 patients, with an incidence of 2.02 per million. Two northern provinces that are home to 5% of the Swedish population accounted for 77% of FAP cases; the incidence in one of them, West Bothnia, was 100 times that in the rest of Sweden. Approximately 98% of non-neuropathic disease patients were immigrants, most of whom were from the Eastern Mediterranean area. Young Syrian descendants had the highest incidence rate, which was over 500-fold higher than that in individuals with Swedish parents. Even the early onset of these conditions identified them as familial autoinflammatory diseases.
  
  
  CONCLUSIONS
  FAP cases were highly concentrated in the two northernmost provinces. Non-neuropathic familial autoinflammatory diseases were of early-onset and immigrant origin most likely related to periodic fever syndromes. Paradoxically, FAP has remained endemic, in spite of population movements within the country, while familial autoinflammatory diseases, with an incidence exceeding that of FAP, were brought into the country as a result of immigration mainly from the Eastern Mediterranean area.
authors.forename: Kari
authors.initials: K
authors.lastname: Hemminki
authors.forename: Xinjun
authors.initials: X
authors.lastname: Li
authors.forename: Asta
authors.initials: A
authors.lastname: Försti
authors.forename: Jan
authors.initials: J
authors.lastname: Sundquist
authors.forename: Kristina
authors.initials: K
authors.lastname: Sundquist
mesh_terms: D000293:Adolescent; D000328:Adult; D017677:Age Distribution; D000367:Age Factors; D000368:Aged; D000369:Aged, 80 and over; D028226:Amyloidosis, Familial / Q000453:epidemiology*; D002648:Child; D002675:Child, Preschool; D054242:Emigrants and Immigrants; D019353:Endemic Diseases; D005260:Female; D056660:Hereditary Autoinflammatory Diseases / Q000453:epidemiology*; D006801:Humans; D015994:Incidence; D007223:Infant; D008297:Male; D008875:Middle Aged; D008877:Middle East / Q000208:ethnology; D009154:Mutation; D013548:Sweden / Q000453:epidemiology; D055815:Young Adult