Summary
Definition
History and exam
Key diagnostic factors
- jugular venous distention
- lower extremity edema
- periorbital purpura
- eyelid petechiae
- macroglossia
Other diagnostic factors
- fatigue
- weight loss
- dyspnea on exertion
- peripheral neuropathy
- autonomic neuropathy
- claudication
- nausea or vomiting
- abdominal cramps
- alternating bowel habit
- lightheaded/orthostatic hypotension
- submandibular salivary gland enlargement
- hepatomegaly
- shoulder pad sign
- diffuse muscular weakness
- Carpal tunnel syndrome
Risk factors
- monoclonal gammopathy of undetermined significance (MGUS)
- inflammatory polyarthropathy
- chronic infections
- inflammatory bowel disease
- familial periodic fever syndromes
- Castleman disease
Diagnostic investigations
1st investigations to order
- serum immunofixation
- urine immunofixation
- immunoglobulin free light chain assay
- CBC
- comprehensive metabolic profile
- 24-hour urine collection
- tissue biopsy
Investigations to consider
- mass spectrometry
- immuno-electron microscopy
- immuno-histochemical studies
- genetic testing
- serum troponin level
- N-terminal pro-B-type natriuretic peptide
- beta-2-microglobulin
- ECG
- echocardiogram (with tissue Doppler and global longitudinal strain)
- cardiac MRI
- scintigraphy (bone)
Treatment algorithm
immunoglobulin light chain (AL) amyloidosis
secondary (AA) amyloidosis (non-familial)
familial periodic fever syndromes
transthyretin (TTR) amyloidosis
relapsed or refractory AL amyloidosis
Contributors
Authors
Morie A. Gertz, MD, MACP
Seidler Jr. Professor of Medicine
Consultant in Hematology
Chair Emeritus of the Department of Medicine
Mayo Distinguished Clinician
Mayo Clinic College of Medicine
Rochester
MN
Disclosures
MAG has received personal fees from Ionis/Akcea, Alnylam, Prothena, Janssen, Annexon, Appellis, Amgen, Medscape, Physicians Education Resource, and Research to Practice; and grants and personal fees from Spectrum. MAG has received personal fees from AbbVie and Celgene for a Data Safety Monitoring board, and personal fees from Sanofi for workforce training. MAG has received speaker fees from Teva, Johnson & Johnson, Medscape, and DAVA Oncology; and advisory board fees from Pharmacyclics and Procalara. MAG has participated in the development of educational materials for the i3Health Educational Program development. MAG has received royalties from Springer Publishing. MAG has received grant funding from the Amyloidosis Foundation, International Waldenstrom's Macroglobulinemia Foundation, and National Cancer Institute (SPORE MM SPORE 5P50 CA186781-04). MAG has stock options in Attralus (formerly known as Aurora Bio). MAG is an author of references cited in this topic.
Peer reviewers
Donna Reece, MD
Associate Professor of Medicine
Director
Program for Multiple Myeloma and Related Diseases
Princess Margaret Hospital
Toronto
Ontario
Canada
Disclosures
DR has been reimbursed by Millennium Pharmaceuticals, Inc and Johnson & 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.
Jeffrey Zonder, MD
Assistant Professor of Medicine and Oncology
Division of Hematology/Oncology
Wayne State University School of Medicine
Barbara Ann Karmanos Cancer Institute
Detroit
MI
Disclosures
JZ declares that he has no competing interests.
Differentials
- Hypertrophic cardiomyopathy (HCM)
- Membranous glomerulopathy
- Monoclonal gammopathy of undetermined significance (MGUS)-associated neuropathy
More DifferentialsGuidelines
- NCCN clinical practice guidelines in oncology: systemic light chain amyloidosis
- Guidelines for high dose chemotherapy and stem cell transplantation for systemic AL amyloidosis: EHA-ISA working group guidelines
More Guidelines
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