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AL amyloidosis

See also in: External and Internal Eye,Nail and Distal Digit,Oral Mucosal Lesion
Contributors: Rajini Murthy MD, Paritosh Prasad MD, Susan Burgin MD
Other Resources UpToDate PubMed

Synopsis

Primary systemic (AL) amyloidosis is an acquired amyloidosis, almost always associated with a plasma cell dyscrasia. Multiple myeloma is the most common association, but it is also seen with Waldenström macroglobulinemia and other paraproteinemias. The disease is more common in older adults; incidence increases with advancing age. The prognosis is poor.

Amyloid deposits in AL amyloidosis are composed of immunoglobulin light chains. Monoclonal proteins or Bence Jones proteins are usually detected.

Systemic findings can be related to the involvement of the heart, muscles, gastrointestinal tract, kidneys, and nerves. Symptoms may include fatigue, weight loss, paresthesia, syncope, and shortness of breath. Cardiac involvement may present as syncope, angina, or symptoms of heart failure. Low ECG voltages may develop as a consequence of restrictive cardiomyopathy. Renal involvement with nephrotic syndrome is the most common presentation of immunoglobulin amyloidosis. Neurologic symptoms include a sensory peripheral neuropathy, presenting in a stocking and glove distribution. Cognitive impairment and memory loss may be present. An "idiopathic" carpal tunnel syndrome can also occur. Gastrointestinal involvement is variable and may present with hemorrhage, changes in bowel movements, and dyspepsia.

Amyloid infiltration of skeletal muscle can result in pseudohypertrophy, classically involving the tongue and leading to macroglossia.

Mucocutaneous lesions can be seen in 30%-40% of patients with AL amyloidosis and may present before systemic involvement is apparent, providing an early clue to diagnosis.

Abnormal bleeding and/or abnormal bleeding tests are seen in approximately 30%-50% of patients with amyloidosis.

Related topic: AA amyloidosis

Codes

ICD10CM:
E85.81 – Light chain (AL) amyloidosis

SNOMEDCT:
23132008 – AL amyloidosis

Look For

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

Distinguish AL amyloidosis from other forms of amyloidosis:
  • AA amyloidosis
  • Age-related amyloidosis (wild type transthyretin amyloidosis)
  • Familial (hereditary) amyloidosis
Other systemic monoclonal immunoglobulin deposition disease:
  • Light chain deposition disease
  • Light and heavy chain deposition disease
  • Heavy chain deposition disease
Dermatologic differential diagnosis:
  • Nodular amyloidosis or localized cutaneous amyloidosis
  • Lichen amyloidosis
  • Myxedema
  • Scleredema
  • Scleromyxedema
  • Lipoid proteinosis
  • Colloid milium
  • Leprosy
  • Diffuse cutaneous mastocytosis
Differential diagnosis of purpura:
  • Solar purpura
  • Traumatic purpura
  • Sebaceous hyperplasia
  • Purpura secondary to aspirin or over-anticoagulation (see Drug-induced non-palpable purpura)
  • Battle sign (see Traumatic purpura)
  • Leukocytoclastic vasculitis
  • Retiform purpura
Differential diagnosis of smooth papules on the eyelids:
  • Periorbital dermatitis
  • Rosacea
  • Micropapular or papular Sarcoidosis
  • Lipoid proteinosis
  • Colloid milium
  • Syringoma
  • Apocrine hidrocystoma
  • Eccrine hidrocystoma
  • Trichoepithelioma, Trichilemmoma
Differential diagnosis for bullous amyloid:
  • Coma bullae
  • Bullosis diabeticorum
  • Bullous pemphigoid
  • Bullous Arthropod bite or sting
  • Intertrigo (favors intertriginous areas)
  • Epidermolysis bullosa acquisita
  • Porphyria cutanea tarda
  • Pseudoporphyria
Differential diagnosis for nail changes:
  • Lichen planus
  • Chronic graft-versus-host disease
  • Pityriasis rubra pilaris
  • Psoriasis

Best Tests

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Management Pearls

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Therapy

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References

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Last Reviewed:03/18/2021
Last Updated:08/16/2021
Copyright © 2024 VisualDx®. All rights reserved.
AL amyloidosis
See also in: External and Internal Eye,Nail and Distal Digit,Oral Mucosal Lesion
A medical illustration showing key findings of AL amyloidosis : Fatigue, Hepatomegaly, Alkaline phosphatase elevated, Eyelid edema, Proteinuria, Ecchymosis, Paresthesias, Splenomegaly
Clinical image of AL amyloidosis - imageId=91508. Click to open in gallery.  caption: 'Purpura on the medial eyelids and forehead.'
Purpura on the medial eyelids and forehead.
Copyright © 2024 VisualDx®. All rights reserved.