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.
History and exam
- weight loss
- dyspnoea on exertion
- abdominal cramps
- alternating bowel habit
- light-headed/orthostatic hypotension
- submandibular salivary gland enlargement
- shoulder pad sign
- diffuse muscular weakness
- sensory neuropathy
- Tinel's sign
- Phalen's manoeuvre
- tissue biopsy
- immunohistological studies of amyloid deposits
- mass spectrometry
- immuno-electron microscopy
- genetic testing
- serum amyloid P (SAP) scintigraphy scan
- comprehensive metabolic profile
- 24-hour urine collection
- serum troponin level
- B-type natriuretic peptide
- Doppler echo with strain
- cardiac MRI
Seidler Jr. Professor of Medicine
Consultant in Hematology
Chair Emeritus of the Department of Medicine
Mayo Distinguished Clinician
Mayo Clinic College of Medicine
MAG declares that he has received honoraria from Celgene Corporation, Prothena Corporation Plc, Onyx Pharmaceuticals, Alnylam, and Ionis Pharmaceuticals. MAG is also an author of several references cited in this monograph.
Associate Professor of Medicine
Program for Multiple Myeloma and Related Diseases
Princess Margaret Hospital
DR has been reimbursed by Millennium Pharmaceuticals, Inc and Johnson and Johnson, the manufacturers of bortezomib, for attending several conferences, for speaking at educational meetings, and for consulting work. She has also been reimbursed by Celgene, the manufacturer of lenalidomide and thalidomide, for attending several symposia and serving as a speaker.
Assistant Professor of Medicine and Oncology
Division of Hematology/Oncology
Wayne State University School of Medicine
Barbara Ann Karmanos Cancer Institute
JZ declares that he has no competing interests.
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