AMYLOIDOSIS

Many different proteins can lead to the formation of amyloid deposits. The type of protein and where it collects determines the type of amyloidosis you have.

There are different types of amyloidosis, including:

• Primary (systemic AL) amyloidosis. This is the most common type of amyloidosis. “Systemic” means it affects the entire body. The most commonly affected body parts are the kidney, heart, liver, intestines, and certain nerves. AL stands for “amyloid light chains,” which is the type of protein responsible for this type of amyloidosis.

• Secondary (systemic AA) amyloidosis. This is the result of another chronic inflammatory disease, such as lupus, rheumatoid arthritis, tuberculosis, inflammatory bowel disease (Crohn’s disease and ulcerative colitis), and certain cancers. It most commonly affects the spleen, kidneys, liver, adrenal gland, and lymph nodes. AA means the amyloid type A protein causes this type of amyloidosis.

• Dialysis-related amyloidosis (DRA). This is more common in older adults and people who have been on dialysis for more than 5 years. This form of amyloidosis is caused by in the blood. Deposits can occur in many different tissues, but most commonly affects bones, joints, and tendons.

• Familial, or hereditary, amyloidosis (AF). This is a rare form that is passed down through families. An abnormal amyloid transthyretin (TTR) protein, which is made in the liver, is responsible for the most common forms of hereditary amyloidosis.

• Senile systemic amyloidosis (SSA). This is caused deposits of normal TTR in the heart and other tissues. It occurs most commonly in older men.

• Organ-specific amyloidosis. This is cause deposits of amyloid protein in single organs, including the skin (cutaneous amyloidosis).

Symptoms of Amyloidosis

Symptoms of amyloidosis are often subtle and vary greatly depending on where the amyloid protein is collecting in the body.

General symptoms of amyloidosis may include:

• Changes in skin color
• Clay-colored stools
• Fatigue
• Feeling of fullness
• Joint pain
• Low red blood cell count (anemia)
• Shortness of breath
• Swelling of the tongue
• Tingling and numbness in legs and feet
• Weak hand grip
• Weakness
• Weight loss

DIAGNOSIS

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.

RECOMMENDED MEDICATIONS

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