Amyloidosis
A rare, chronic disease, amyloidosis results in the accumulation of an abnormal fibrillar scleroprotein (amyloid), which infiltrates body organs and soft tissues. The forms of amyloidosis may differ clinically and biochemically.
A primary disease, amyloidosis may also be familial, especially in persons of Portuguese ancestry. Amyloidosis is frequently associated with carpal tunnel syndrome. It may occur in conjunction with multiple myeloma, or it may be associated with chronic infections, tuberculosis, osteomyelitis, long-term hemodialysis, or chronic inflammatory conditions such as rheumatoid arthritis. It may also accompany aging or Alzheimer’s disease. Localized
amyloidosis affects isolated organs with no evidence of systemic involvement.
amyloidosis affects isolated organs with no evidence of systemic involvement.
Although the prognosis varies with the disease type, site, and extent of involvement, amyloidosis sometimes results in permanent—even life-threatening—organ damage. The average survival rate for a patient with generalized amyloidosis is about 1 to 4 years, although some patients live 10 years or more.
Causes
The precise etiology of amyloidosis is unknown. Multiple immunobiological factors are thought to contribute to this disorder.
Complications
Renal failure is the most common cause of death associated with amyloidosis; arrhythmias resulting in sudden death also are common. Other life-threatening complications of amyloidosis include GI hemorrhage, respiratory failure, intractable heart failure, and superimposed infections.
Assessment
Depending on which body site is involved, amyloidosis may cause dysfunction of the heart, respiratory tract, kidneys, GI tract, skin, peripheral nerves, joints, and liver.
The patient may have a history of an associated disease or condition. He may list decreased sensations of pain and temperature; difficulty talking, swallowing, and eating due to macroglossia; and an inability to sweat. He may also have dyspnea, a cough, light-headedness with position changes, palpitations, and increased clotting time. With GI involvement, he may report abdominal pain, constipation, diarrhea, or GI bleeding. With joint involvement, he may complain of morning stiffness and fatigue.
Inspection may reveal dyspnea with respiratory involvement and enlargement of the tongue with hindered enunciation. The patient may appear malnourished due to chronic malabsorption. With skin involvement, characteristic lesions appear as slightly raised papules or plaques found mainly in the axillary, inguinal, or anal regions or on the face, neck, ear, or tongue. With proteinuria, edema may be evident.
Palpation may reveal abdominal tenderness and an enlarged liver. The tongue may feel stiff and firm. You may be able to palpate small joint nodules.
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