Primary Systemic Amyloidosis Clinical Presentation

Updated: Aug 05, 2019
  • Author: Judit H Nyirady, MD, MBA; Chief Editor: Dirk M Elston, MD  more...
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Presentation

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 Examination

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. [14]

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. [15, 16]

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). [17]

Villa et al reported on amyloid goiter. [18]

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Complications

The presence of diffuse skin infiltrates and the loss of scalp hair can be distressing.

Macroglossia may be associated with painful dysphagia.

Cardiac involvement may cause angina, infarction, arrhythmias, or orthostatic hypotension. [19, 20]

Congestive heart failure or arrhythmias account for death in about 40% of the cases of primary systemic amyloidosis.

Blood vessel infiltration may lead to claudication of the legs or jaw. A case of temporal arteritis also has been described. [21]

Amyloid infiltration of the gastrointestinal tract may result in hemorrhage that can cause malabsorption or even death. [22]

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