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Causes and symptoms

The cause of amyloidosis is unknown. Most patients have gastrointestinal abnormalities, but other symptoms vary according to the organ(s) or system(s) affected by the disease. Usually the affected organs are rubbery, firm, and enlarged.

Heart

Because amyloid protein deposits can limit the heart's ability to fill with blood between beats, even the slightest exertion can cause shortness of breath. If the heart's electrical system is affected, the heart's rhythm may become erratic. The heart may also be enlarged and heart murmurs may be present. Congestive heart failure may result.

Kidneys

The feet, ankles, and calves swell when amyloidosis damages the kidneys. The kidneys become small and hard, and kidney failure may result. It is not unusual for a patient to lose 20-25 pounds and develop a distaste for meat, eggs, and other protein-rich foods. Cholesterol elevations that don't respond to medication and protein in the urine (proteinuria) are common.

Nervous system

Nervous system symptoms often appear in patients with familial amyloidosis. Inflammation and degeneration of the peripheral nerves (peripheral neuropathy) may be present. One of four patients with amyloidosis has carpal tunnel syndrome, a painful disorder that causes numbness or tingling in response to pressure on nerves around the wrist. Amyloidosis that affects nerves to the feet can cause burning or numbness in the toes and soles and eventually weaken the legs. If nerves controlling bowel function are involved, bouts of diarrhea alternate with periods of constipation. If the disease affects nerves that regulate blood pressure, patients may feel dizzy or faint when they stand up suddenly.

Liver and spleen

The most common symptoms are enlargement of these organs. Liver function is not usually affected until quite late in the course of the disease. Protein accumulation in the spleen can increase the risk of rupture of this organ due to trauma.

Gastrointestinal system

The tongue may be inflammed, enlarged, and stiff. Intestinal movement (motility) may be reduced. Absorption of food and other nutrients may be impaired (and may lead to malnutrition), and there may also be bleeding, abdominal pain, constipation, and diarrhea.

Skin

Skin symptoms occur in about half of all cases of primary and secondary amyloidosis and in all cases where there is inflammation or degeneration of the peripheral nerves. Waxy-looking raised bumps (papules) may appear on the face and neck, in the groin, armpits, or anal area, and on the tongue or in the ear canals. Swelling, hemorrhage beneath the skin (purpura), hair loss, and dry mouth may also occur.

Respiratory system

Airways may be obstructed by amyloid deposits in the nasal sinus, larynx and traches (windpipe).