Amyloidosis

An amyloid tissue deposition disease that may have a primary cause or be secondary to other diseases.

Usually presents with unexplained weight loss, fatigue, and oedema resistant to diuretic therapy.

Immunofixation of the serum and urine confirms the presence of monoclonal light chains in primary systemic amyloidosis. Biopsy verification of amyloid deposits is essential.

Treatment includes appropriate management of resulting clinical syndromes, such as nephrotic syndrome, neuropathy, cardiomyopathy, and conduction disorders.

Definitive treatment of primary systemic amyloidosis (AL amyloidosis) includes myeloablative high-dose chemotherapy, with stem cell reconstitution in selected patients, or chemotherapy.

Any histological tissue specimen that binds the cotton wool dye, Congo red, and demonstrates green birefringence when viewed under polarised light is, by definition, an amyloid deposit. The patient with this deposit has amyloidosis. Deposits of amyloid may be localised in tissue or part of a systemic process. Progressive deposition of amyloid is disruptive to tissue and organ function and manifests its clinical sequelae by the dysfunction of those organs in which it deposits.[1]Gertz MA, Comenzo R, Falk RH, et al. Definition of organ involvement and treatment response in immunoglobulin light chain amyloidosis (AL): a consensus opinion from the 10th International Symposium on Amyloid and Amyloidosis, Tours, France, 18-22 April 2004. Am J Hematol. 2005 Aug;79(4):319-28. http://www.ncbi.nlm.nih.gov/pubmed/16044444?tool=bestpractice.com [2]International Myeloma Working Group. Criteria for the classification of monoclonal gammopathies, multiple myeloma and related disorders: a report of the International Myeloma Working Group. Br J Haematol. 2003 Jun;121(5):749-57. http://www.ncbi.nlm.nih.gov/pubmed/12780789?tool=bestpractice.com