title: Diagnosis of secondary amyloidosis in alkaptonuria.
abstract: BACKGROUND
  Alkaptonuria (AKU) is an inborn error of catabolism due to a deficient activity of homogentisate 1,2-dioxygenase. Patients suffer from a severe arthropathy, cardiovascular and kidney disease but other organs are affected, too. We found secondary amyloidosis as a life-threatening complication in AKU, thus opening new perspectives for its treatment. We proved that methotrexate and anti-oxidants have an excellent efficacy to inhibit the production of amyloid in AKU model chondrocytes. Owing to the progressive and intractable condition, it seems important to detect amyloid deposits at an early phase in AKU and the choice of specimens for a correct diagnosis is crucial.
  
  
  METHODS
  Ten AKU subjects were examined for amyloidosis; abdominal fat pad aspirates, labial salivary gland, cartilage and synovia specimens were analysed by CR, Th-T, IF, TEM.
  
  
  RESULTS
  Amyloid was detected in only one abdominal fat pad specimen. However, all subjects demonstrated amyloid deposition in salivary glands and in other organ biopsies, indicating salivary gland as the ideal specimen for early amyloid detection in AKU.
  
  
  CONCLUSIONS
  This is, at the best of our knowledge, the first report providing correct indications on the diagnosis of amyloidosis in AKU, thus offering the possibility of treatment of such co-morbidity to AKU patients.
  The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/13000_2014_185.
authors.forename: Lia
authors.initials: L
authors.lastname: Millucci
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Ghezzi
authors.forename: Giulia
authors.initials: G
authors.lastname: Bernardini
authors.forename: Daniela
authors.initials: D
authors.lastname: Braconi
authors.forename: Pietro
authors.initials: P
authors.lastname: Lupetti
authors.forename: Federico
authors.initials: F
authors.lastname: Perfetto
authors.forename: Maurizio
authors.initials: M
authors.lastname: Orlandini
authors.forename: Annalisa
authors.initials: A
authors.lastname: Santucci
mesh_terms: D050153:Abdominal Fat / Q000378:metabolism / Q000473:pathology; D000328:Adult; D000368:Aged; D000474:Alkaptonuria / Q000150:complications*; D058227:Amyloidogenic Proteins / Q000378:metabolism*; D000686:Amyloidosis / Q000175:diagnosis* / Q000209:etiology* / Q000378:metabolism; D015415:Biomarkers / Q000378:metabolism; D001706:Biopsy; D002356:Cartilage / Q000378:metabolism / Q000473:pathology; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D012189:Retrospective Studies; D012469:Salivary Glands / Q000378:metabolism* / Q000473:pathology; D012680:Sensitivity and Specificity; D013583:Synovial Membrane / Q000378:metabolism / Q000473:pathology
chemical_list: D058227:Amyloidogenic Proteins; D015415:Biomarkers