A rare disease, hereditary amyloidosis is caused by the build-up of amyloid in the organs. The buildup occurs due to genetic mutations. Amyloids are abnormal protein deposits. These are produced in the bone marrow and accumulate in any tissue or organ. Depending on the organ affected, there can be different types of hereditary amyloidosis. Accordingly, hereditary amyloidosis symptoms will differ based on the type. The symptoms will also depend on the degree of impairment of the affected organ.
Some of the general hereditary amyloidosis symptoms include the following:
- Extreme fatigue and weakness
- Sudden weight loss
- Changes in skin color
- Feeling of fullness
- Joint pain
- Shortness of breath
- Swelling of the tongue
- Weak hand grip
- Tingling and numbness in feet and legs
Cardiac (heart) amyloidosis symptoms
When amyloid deposits accumulate in the heart, the walls of the heart muscles become stiff. In this case, hereditary amyloidosis symptoms will include nausea, weight loss, insomnia, dizziness, edema, chest pain, and atrial fibrillation. Congestive heart failure can also occur.
Amyloid neuropathy symptoms
Amyloid deposits can accumulate on the peripheral nerves, which are just outside the brain and the spinal cord. This is called peripheral neuropathy. Deposits may also collect in the autonomic nerves that control internal organ functions. This is called autonomic neuropathy. The symptoms will include tingling, numbness, and burning sensations in the hands, feet, and lower legs. There can be increased sensitivity to pain. Other symptoms include loss of sensitivity to temperature, balance problems, excessive sweating, erectile dysfunction, poor digestion, bowel motility, and lightheadedness.
Gastrointestinal amyloidosis symptoms
Deposits of amyloid along the gastrointestinal tract slow down the movement of food along the intestines. This leads to interference with digestion. In this case, hereditary amyloidosis symptoms will include loss of appetite, diarrhea, nausea, weight loss, and nausea. The liver may also be affected.
Renal (kidney) amyloidosis symptoms
When amyloidosis deposits accumulate in the kidneys, it becomes difficult for the kidneys to filter proteins and toxins in the blood. This leads to nephrotic syndrome. Excess protein will be found in the urine. The lower legs will swell abnormally leading to edema. Swelling can be observed in the stomach, lungs, and arms too. In severe cases, the kidneys will be unable to purify blood leading to renal failure.