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Amyloidosis

Last reviewed: 10 Oct 2024
Last updated: 11 Oct 2024

Summary

Definition

History and exam

Key diagnostic factors

  • jugular venous distention
  • lower extremity edema
  • history of a chronic inflammatory condition, chronic infection, familial periodic fever syndrome
  • history of monoclonal gammopathy of undetermined significance (MGUS)
  • periorbital purpura
  • eyelid petechiae
  • macroglossia
Full details

Other diagnostic factors

  • fatigue
  • weight loss
  • dyspnea on exertion
  • peripheral neuropathy
  • autonomic neuropathy
  • claudication
  • nausea or vomiting
  • abdominal cramps
  • alternating bowel habit
  • steatorrhea
  • lightheaded
  • submandibular salivary gland enlargement
  • hepatomegaly
  • shoulder pad sign
  • diffuse muscular weakness
  • orthostatic hypotension
  • carpal tunnel syndrome
  • musculoskeletal disorders
Full details

Risk factors

  • monoclonal gammopathy of undetermined significance (MGUS)
  • inflammatory polyarthropathy
  • chronic infections
  • inflammatory bowel disease
  • familial periodic fever syndromes
  • Castleman disease
Full details

Diagnostic tests

1st tests to order

  • serum immunofixation electrophoresis
  • urine immunofixation electrophoresis (using 24-hour urine collection)
  • serum immunoglobulin free light chain assay
  • CBC with differential
  • peripheral blood smear
  • serum quantitative immunoglobulins
  • serum protein electrophoresis
  • comprehensive metabolic profile
  • urine protein electrophoresis (using 24-hour urine collection)
  • 24-hour total urine protein
  • orthostatic vital sign assessment
  • tissue biopsy
Full details

Tests to consider

  • mass spectrometry
  • immuno-electron microscopy
  • immunohistochemical studies
  • genetic testing
  • serum troponin T or I
  • N-terminal pro-B-type natriuretic peptide (NT‐proBNP)
  • lipid panel
  • coagulation studies
  • ECG
  • echocardiogram (with tissue Doppler and global longitudinal strain)
  • cardiac MRI
  • cardiac scintigraphy
  • electromyogram/nerve conduction studies
  • endocrine tests
  • pulmonary function tests
  • computed tomography (CT) scan
  • fluorodeoxyglucose positron emission tomography (FDG-PET)/CT
  • skeletal survey
  • abdominal ultrasound
  • gastric emptying scan
  • upper and lower endoscopy
  • 123I-labeled serum amyloid P (SAP) scintigraphy
Full details

Treatment algorithm

ACUTE

immunoglobulin light chain (AL) amyloidosis

secondary (AA) amyloidosis (non-familial)

familial periodic fever syndromes

transthyretin (TTR) amyloidosis

ONGOING

refractory or relapsed AL amyloidosis

Contributors

Authors

Morie A. Gertz, MD, MACP
Morie A. Gertz

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.

  • Amyloidosis images
  • Differentials

    • Hypertrophic cardiomyopathy (HCM)
    • Membranous glomerulopathy
    • Monoclonal gammopathy of undetermined significance (MGUS)-associated neuropathy
    More Differentials
  • Guidelines

    • NCCN clinical practice guidelines in oncology: systemic light chain amyloidosis
    • NCCN clinical practice guidelines in oncology: hematopoietic cell transplantation (HCT)
    More Guidelines
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