• diseases
  • M.B.P. is the inventor on patents covering SAP as a therapeutic target in amyloidosis and amyloid-associated diseases, and the use of CPHPC for SAP depletion, owned by Pentraxin Therapeutics Ltd, a University College London spinout company in which he and P.N.H. own shares. (pubmedcentralcanada.ca)
  • It belongs to a group of diseases called amyloidosis, chronic progressive conditions linked to abnormal deposition of normal or abnormal proteins, because these proteins are misshapen and cannot be properly degraded and eliminated by the cell metabolism. (wikipedia.org)
  • Clinical
  • The clinical presentations of amyloidosis are extremely diverse and the diagnosis is rarely made before significant organ damage is present 1 . (pubmedcentralcanada.ca)
  • There is promise that two drugs, tafamidis and diflunisal, may improve the outlook, since they were demonstrated in randomized clinical trials to benefit patient affected by the related condition FAP-1 otherwise known as transthyretin-related hereditary amyloidosis. (wikipedia.org)
  • deposition
  • Immunoglobulin light chain amyloidosis (AL) is a plasma cell dyscrasia characterized by deposition of amyloid fibrils in various organs and tissues, derived from monoclonal light chains, leading to organ dysfunction. (haematologica.org)
  • symptoms
  • Myalgia (rare in isolation) Erysipeloid (a skin reaction on the legs, rare in isolation) Fever without any of the other symptoms listed above (25%) AA-amyloidosis with kidney failure is a complication and may develop without overt crises. (wikipedia.org)
  • protein
  • Over 20 different amyloid fibril proteins are responsible for different forms of clinically significant amyloidosis and treatments that substantially reduce the abundance of the respective amyloid fibril precursor protein can arrest amyloid accumulation 1 . (pubmedcentralcanada.ca)
  • Unfortunately control of fibril protein production is not possible in some forms of amyloidosis and in others is often slow and hazardous 1 . (pubmedcentralcanada.ca)
  • This is in contrast to a related condition called transthyretin-related hereditary amyloidosis where a genetically mutated transthyretin protein tends to deposit at a much earlier age than in WTTA, due to abnormal conformation and bioprocessing. (wikipedia.org)
  • diagnosis
  • People affected by WTT amyloidosis are likely to have required a pacemaker before diagnosis and have a high incidence of a partial electrical blockage of the heart, known as left bundle branch block. (wikipedia.org)
  • primary
  • For previously reported cases (approximately 100) and reviews of the literature of primary systemic amyloidosis, 1-14 we found no report of similar bone marrow findings though Snapper, Turner and Moscovitz 15 have reported Russell bodies in the bone marrow in atypical amyloidosis accompanying multiple myeloma. (annals.org)