A thorough physical exam and a detailed and accurate account of your medical history are crucial in helping your doctor diagnose amyloidosis. Sophisticated laboratory techniques called electrophoresis or free light chain assays may reveal early evidence of some amyloid proteins.
A diagnosis of amyloidosis is confirmed through biopsy. Biopsy can also determine the specific type of protein involved in the disease.
Genetic testing will be done if your health care provider suspects you have a type that is passed down through families. Treatment for hereditary amyloidosis is different than for other types of the disease.
Other blood, urine, and imaging tests will be done to check organ function.
There is no cure for amyloidosis. Your doctor will prescribe treatments to suppress the development of the amyloid-forming protein, and to manage your symptoms. If amyloidosis is related to another condition, then treatment will include targeting that underlying condition.
Specific treatment depends on what type of amyloidosis you have and how many organs are affected.
- High-dose chemotherapy with stem cell transplant. Chemotherapy medicines alone are used to treat other patients with primary AL amyloidosis.
- Steroids in order to treat the underlying cause of secondary (AA) amyloidosis.
- Liver transplant may stop the disease in those with hereditary amyloidosis.
- A kidney or heart transplant may also be recommended.
Other treatments to help with symptoms may involve:
- Diuretic medicine to remove excess water from your body
- Thickeners to add to fluids to prevent choking in those who have swelling of the tongue
- Compression stockings to relieve swelling in the legs or feet
- Diet modifications, especially for those with gastrointestinal amyloidosis