Primary Systemic Amyloidosis Workup

  • Author: Judit Nyirady, MD, MBA; Chief Editor: Dirk M Elston, MD   more...
 
Updated: Aug 1, 2011
 

Laboratory Studies

In a review of 132 primary systemic amyloidosis cases, Kyle and Bayrd reported that laboratory studies revealed anemia in less than 50% of the cases.[8] The white cell count was usually within the reference range, and the erythrocyte sedimentation rate was higher than 50 mm/h in one half of the cases. Hepatic function was abnormal, and the serum creatinine level was increased in 50% of patients. Proteinuria was present in more than 90% of the cases.

Conventional urine heat testing and electrophoresis of serum and urine samples may fail to demonstrate small quantities of monoclonal paraprotein or Bence-Jones protein. Immunoelectrophoresis of serum and concentrated urine samples is essential.

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Imaging Studies

Echocardiography is valuable in the evaluation of amyloid heart disease. It usually reveals a concentrically thickened left ventricle and often a thickened right ventricle, with a normal-to-small cavity.

Doppler studies are useful and may show abnormal relaxation early in the course of the disease. Advanced involvement is characterized by restrictive hemodynamics.

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Procedures

Biopsy of a cutaneous lesion, if present, has the advantage of safety and a high diagnostic yield.

Biopsy results in clinically normal skin may be positive in as many as 50% of cases of primary systemic amyloidosis.

Findings from abdominal fat aspiration are positive in almost 80% of patients.

Rectal biopsy reveals positive findings in about 80% of patients.

If specimens from the biopsy sites are negative for amyloid, tissue should be obtained from an organ or area with suspected involvement, such as the kidney, liver, heart, or sural nerve.

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Histologic Findings

The best way to identify amyloid is to stain paraffin-embedded sections with alkaline Congo red and to examine them with polarized light to elicit a green fluorescence. Routine hematoxylin-eosin staining may show a homogenous, faintly eosinophilic mass if enough amyloid is present.

Analysis of a skin biopsy specimen of a papule reveals an amorphous or fissured eosinophilic mass in the papillary dermis with associated thinning or obliteration of the rete ridges. Nodules and plaques may demonstrate diffuse amyloid deposition in the reticular dermis or subcutis. Amyloid depositions are usually not associated with an inflammatory infiltrate.

The appearance of amyloid infiltration of the blood vessel walls, pilosebaceous units, arrector pili muscles, and lamina propria of sweat glands and infiltration around individual fat cells in the subcutis (known as amyloid rings) are characteristic findings. Amyloid may be deposited in the nail bed of dystrophic nails.

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Contributor Information and Disclosures
Author

Judit Nyirady, MD, MBA  Adjunct Assistant Professor, Department of Dermatology, University of Medicine and Dentistry of New Jersey, New Jersey Medical School

Judit Nyirady, MD, MBA is a member of the following medical societies: American Academy of Dermatology, European Academy of Dermatology and Venereology, International Society of Dermatology, Society for Investigative Dermatology, and Women's Dermatologic Society

Disclosure: Novartis Pharmaceuticals Corporation Salary Employment

Coauthor(s)

Robert A Schwartz, MD, MPH  Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, University of Medicine and Dentistry of New Jersey-New Jersey Medical School

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, and Sigma Xi

Disclosure: Nothing to disclose.

Specialty Editor Board

Takeji Nishikawa, MD  Emeritus Professor, Department of Dermatology, Keio University School of Medicine; Director, Samoncho Dermatology Clinic; Managing Director, The Waksman Foundation of Japan Inc

Disclosure: Nothing to disclose.

David F Butler, MD  Professor of Dermatology, Texas A&M University College of Medicine; Chair, Department of Dermatology, Director, Dermatology Residency Training Program, Scott and White Clinic, Northside Clinic

David F Butler, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Association of Military Dermatologists, and Phi Beta Kappa

Disclosure: Nothing to disclose.

Edward F Chan, MD  Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania School of Medicine

Edward F Chan, MD is a member of the following medical societies: American Academy of Dermatology, American Society of Dermatopathology, and Society for Investigative Dermatology

Disclosure: Nothing to disclose.

Catherine M Quirk, MD  Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania

Catherine M Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD  Director, Ackerman Academy of Dermatopathology, New York

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

References

  1. Hayman SR, Bailey RJ, Jalal SM, et al. Translocations involving the immunoglobulin heavy-chain locus are possible early genetic events in patients with primary systemic amyloidosis. Blood. Oct 1 2001;98(7):2266-8. [Medline].

  2. Divry P, Florkin M, Firket J. Sur les proprietes otiques de l'amiloide. C R Soc Biol (Paris). 1927;97:1808-10.

  3. Cohen AS, Calkins E. Electron microscopic observations on a fibrous component in amyloid of diverse origins. Nature. Apr 25 1959;183(4669):1202-3. [Medline].

  4. Murtagh B, Hammill SC, Gertz MA, Kyle RA, Tajik AJ, Grogan M. Electrocardiographic findings in primary systemic amyloidosis and biopsy-proven cardiac involvement. Am J Cardiol. Feb 15 2005;95(4):535-7. [Medline].

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  9. Skinner M, Anderson J, Simms R, et al. Treatment of 100 patients with primary amyloidosis: a randomized trial of melphalan, prednisone, and colchicine versus colchicine only. Am J Med. Mar 1996;100(3):290-8. [Medline].

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  17. Kyle RA, Gertz MA, Greipp PR, et al. A trial of three regimens for primary amyloidosis: colchicine alone, melphalan and prednisone, and melphalan, prednisone, and colchicine. N Engl J Med. Apr 24 1997;336(17):1202-7. [Medline].

  18. Shimojima Y, Matsuda M, Ishii W, et al. High-dose melphalan followed by autologous stem cell support in primary systemic AL amyloidosis with multiple organ involvement. Intern Med. May 2005;44(5):484-9. [Medline].

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  20. Dispenzieri A, Lacy MQ, Zeldenrust SR. The activity of lenalidomide with or without dexamethasone in patients with primary systemic amyloidosis. Blood. Sep 28 2006;[Medline].

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