Primary Systemic Amyloidosis Clinical Presentation

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

History

The symptoms of a patient with primary systemic amyloidosis (PSA) are rarely helpful in making the diagnosis because they are often too nonspecific. Therefore, the diagnosis is often delayed.

Presenting symptoms include the following:

  • Fatigue
  • Weight loss
  • Paresthesias
  • Hoarseness
  • Edema

Classically, patients present with symptoms of the following:

The organs most commonly involved are the kidneys or heart, either individually or together. The patients' symptoms reflect the organ or organs most prominently involved.

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Physical

Clinically evident mucocutaneous involvement occurs in 30-40% of patients with primary systemic amyloidosis, and it provides an early clue to the existence of an underlying plasma-cell dyscrasia.

Petechiae and ecchymoses are the most common skin findings, because of cutaneous blood vessel involvement.

The face is most commonly affected; minor trauma sometimes precipitates eyelid and periorbital purpura (pinch purpura or raccoon eyes sign). Purpuric lesions are found in flexural regions such as the nasolabial folds, neck, and axillae.

At times, bullae form; these may be hemorrhagic.

The most characteristic skin lesion in primary systemic amyloidosis consists of waxy papules, nodules, or plaques that may be evident in the eyelids, retroauricular region, neck, or inguinal and anogenital regions. Plaques may coalesce to form large tumefactive lesions.

Diffuse infiltrates may resemble infiltrates of scleroderma or myxedema.

Scalp involvement may appear as diffuse or patchy alopecia.[11]

Dystrophic nail changes include brittleness, crumbling, and subungual striation.

The tongue may be infiltrated, resulting in macroglossia. Macroglossia is a classic feature of primary systemic amyloidosis. The tongue may extrude through gaps between the teeth to produce unique irregular indentations. The presence of amyloid in the oral cavity is often revealed by localized, soft, elastic papules.[12, 13]

Amyloid deposition in the smooth and striated muscles, connective tissue, blood vessel walls, and peripheral nerves may result in myocardial insufficiency, which is the most common cause of death in this fatal disease.

Cardiac infiltration may cause angina, infarction, arrhythmias, or orthostatic hypotension.

Blood vessel infiltration may lead to claudication of the legs or jaw.

Renal amyloidosis usually manifests as proteinuria, often resulting in nephrotic syndrome.

Edema is frequently found and may be the result of cardiac failure or nephrotic syndrome.

Amyloid infiltration of the gastrointestinal tract may result in hemorrhage or malabsorption. Gut bleeding may also be fatal.

Hepatomegaly occurs in about 50% of patients with primary systemic amyloidosis, but splenomegaly is present in less than 10% of patients.

Autonomic and sensory neuropathies are relatively common features. Autonomic neuropathy may result in symptomatic postural hypotension, impotence, and disturbances in gastrointestinal motility.

Summers and Kendrick reported and association with CREST syndrome (ie, calcinosis, Raynaud phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia syndrome).[14]

Villa et al reported on amyloid goiter.[15]

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Causes

Primary systemic amyloidosis is a plasma-cell dyscrasia characterized by an autonomous proliferation of plasma cells with an overproduction of a monoclonal Ig protein.

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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].

  5. Wong CK. Mucocutaneous manifestations in systemic amyloidosis. Clin Dermatol. Apr-Jun 1990;8(2):7-12. [Medline].

  6. Silverstein SR. Primary, systemic amyloidosis and the dermatologist: where classic skin lesions may provide the clue for early diagnosis. Dermatol Online J. 2005;11(1):5. [Medline].

  7. Iwahashi N, Tame E, Nagasaka T, Furuta M, Nagashima H, Nimura Y. Massive hemorrhage and pseudo-obstruction of the small intestine caused by primary AL amyloidosis associated with gastric cancer: report of a case. Surg Today. 2004;34(10):871-4. [Medline].

  8. Kyle RA, Bayrd ED. Amyloidosis: Review of 236 cases. Medicine (Baltimore). 1975;54:271-299. [Medline].

  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].

  10. Kyle RA, Greipp PR. Amyloidosis (AL). Clinical and laboratory features in 229 cases. Mayo Clin Proc. Oct 1983;58(10):665-83. [Medline].

  11. Lutz ME, Pittelkow MR. Progressive generalized alopecia due to systemic amyloidosis. J Am Acad Dermatol. Mar 2002;46(3):434-6. [Medline].

  12. Moura CG, Moura TG, Duraes AR, Souza SP. Exuberant macroglossia in a patient with primary systemic amyloidosis. Clin Exp Rheumatol. May-Jun 2005;23(3):428. [Medline].

  13. Xavier SD, Bussoloti IF, Muller H. Macroglossia secondary to systemic amyloidosis: case report and literature review. Ear Nose Throat J. Jun 2005;84(6):358-61. [Medline].

  14. Summers EM, Kendrick CG. Primary localized cutaneous nodular amyloidosis and CREST syndrome: a case report and review of the literature. Cutis. Jul 2008;82(1):55-9. [Medline].

  15. Villa F, Dionigi G, Tanda ML, Rovera F, Boni L. Amyloid goiter. Int J Surg. Dec 13 2008;[Medline].

  16. Terrier B, Jaccard A, Harousseau JL, et al. The clinical spectrum of IgM-related amyloidosis: a French nationwide retrospective study of 72 patients. Medicine (Baltimore). Mar 2008;87(2):99-109. [Medline].

  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].

  19. Kyle RA, Greipp PR. Primary systemic amyloidosis: comparison of melphalan and prednisone versus placebo. Blood. Oct 1978;52(4):818-27. [Medline].

  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].

  21. Singh V, Fishman JE, Alfonso CE. Primary Systemic Amyloidosis Presenting as Constrictive Pericarditis. Cardiology. Jul 12 2011;118(4):251-255. [Medline].

  22. Desai HV, Aronow WS, Peterson SJ, Frishman WH. Cardiac amyloidosis: approaches to diagnosis and management. Cardiol Rev. Jan-Feb 2010;18(1):1-11. [Medline].

  23. Hayman SR, Lacy MQ, Kyle RA, Gertz MA. Primary systemic amyloidosis: a cause of malabsorption syndrome. Am J Med. Nov 2001;111(7):535-40. [Medline].

  24. Roy A, Roy V. Primary systemic amyloidosis. Early diagnosis and therapy can improve survival rates and quality of life. Postgrad Med. Jun-Jul 2006;119(1):93-9. [Medline].

 
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