Multidisciplinary Amyloidosis Clinic
Amyloidosis is a family of uncommon diseases characterized by a buildup of abnormal proteins in your organs and tissues.
Amyloidosis is a group of complex diseases that can affect multiple areas of the body. There are many different types, and each one often carries its own prognosis.
Production and buildup of amyloid
Amyloids are a form of abnormal protein. In general, amyloidosis is caused by the production and deposition of these amyloids. When these proteins build up in specific organs and tissues, serious complications, including organ failure, can occur.
There is no cure for amyloidosis, but treatment may control symptoms. For some types of amyloid disease, new treatments are available that have markedly improved symptoms and survival.
Main types of amyloidosis
Formerly known as primary amyloidosis, this is the most common type in the United States. It is caused by a bone marrow disorder that produces amyloid proteins. Patients may have swelling, bruising around the eyes, thickened tongue and shortness of breath, and may be prone to passing out.
Formerly known as secondary amyloidosis, this is caused by a chronic inflammation or infection in the body. The body’s natural reaction to inflammation is to have the liver produce a protein known as SAA, which can accumulate in tissues and cause organ dysfunction.
Hereditary (Familial) ATTR Amyloidosis
This type is caused by inheriting a gene mutation that causes normal proteins to break apart and reform into abnormal proteins, which then accumulate in various areas of the body. The effects are not usually seen until adulthood, and some people who carry the gene are only affected minimally, or not at all. Patients may have numbness in their fingers and feet, severe constipation or diarrhea, shortness of breath and dizziness. Genetic testing can help in the diagnosis and family planning. Medications or organ transplant may be offered as therapy.
Wild-type (Senile) ATTR Amyloidosis
This type of amyloid is most commonly diagnosed after the age of 60, and is more prevalent in men. The heart is the most common organ affected. Patients may experience shortness of breath, slowing of the heart rate, swelling in the legs and coughing. Recently approved medications are available to help with symptoms and help slow disease progression.
Also known as Beta2-microglobulin amyloidosis, this form typically is found in patients who have had long-term dialysis to treat chronic kidney disease. When dialysis isn’t able to remove all large proteins from your blood, they can build up in other areas of the body, most commonly joints and tendons.
Symptoms can vary based on the type of amyloid one has, and there may not be any symptoms until your amyloidosis has advanced. When there are symptoms, they are often related to the specific organs or tissues that are affected:
- Kidneys: When amyloids build up in your kidneys, it can affect their ability to remove waste products from your body. Left untreated, this can lead to kidney failure. Common symptoms include foamy or bubbly urine, decreased urine production, and swelling in the legs or ankles due to fluid retention.
- Heart: Amyloid buildup can affect your heart’s ability to pump (congestive heart failure), and can cause shortness of breath, fatigue and dizziness, and fainting. In addition, you may develop other heart complications, such as irregular heartbeat (arrythmia) or slow heartbeat.
- Lungs: Amyloid deposits in the lungs can cause shortness of breath, coughing and other problems with breathing.
- Liver and spleen: When amyloid proteins invade the liver, this may cause an enlarged liver and pain or swelling in the upper abdomen.
- Digestive system: When amyloids collect in the digestive system, you may develop an enlarged tongue, loss of taste, difficulty swallowing, gastroesophageal reflux disease (GERD), constipation or diarrhea, incontinence of stool and rectal bleeding. You also may lose weight.
- Thyroid gland: Amyloids in the thyroid may cause a noncancerous swelling of the thyroid, known as goiter.
- Nerves: Numbness, tingling or pain can develop in the feet, fingers (carpel tunnel syndrome) and other nerves in the body – a condition called neuropathy. Others may have dizziness upon standing up, which can cause one to pass out or feel very lightheaded.
- Skin, soft tissue and veins: When amyloids invade these areas, it can cause the skin to bruise easily, including the development of purple-colored spots (purpura) around your eyes. It can also cause hoarseness, hair loss, enlarged tongue, dry mouth and nail changes.
In addition to these location-specific symptoms, you may also experience other general symptoms, such as unintended weight loss and anemia.
Given that symptoms of amyloidosis may be mistaken for other conditions, it can be difficult to diagnose. However, an accurate and early diagnosis is key to minimize damage to organs and other tissues, and to ensure the best treatment outcome. The specialists at the Henry Ford Multidisciplinary Amyloidosis Clinic offer expertise in diagnosis and the most advanced treatments available. This starts with a thorough medical history and physical exam. Additional evaluation may include:
- Laboratory testing: Blood and urine analysis can help to detect amyloids. Depending on your specific symptoms, your doctor may order other exams, such as liver function or thyroid tests.
- Bone marrow testing: This includes bone marrow aspiration (which removes a small amount of bone marrow fluid) and bone marrow biopsy (which removes some of the bone marrow tissue itself). These are generally performed at the same time and are used to check for amyloids.
- Organ tissue biopsy: Your health care team may biopsy tissue from abdominal fat or from a specific organ that has been affected, such as your kidney or liver. A tissue biopsy is the best way to determine the specific type of amyloidosis.
- Imaging tests: Your care team also may order imaging tests, such as an electrocardiogram, heart ultrasound, or specialized amyloid “PYP” scan or MRI, to determine the extent that the amyloid proteins have invaded specific organs.
The kind of treatment will depend on several factors, including the specific amyloid type, when it’s diagnosed, and how it has affected your organs and other tissues.
Given the complexity of the disease and the fact that it can affect many of the body’s systems, our clinic features a team of specialists. Amyloid experts in our multidisciplinary amyloidosis clinic will review your case and determine the best treatment for you based on testing results. We will discuss treatment recommendations in detail at your clinic visits. Your treatment could include:
- Medical therapy: New drugs have recently received approval for treatment of hereditary and senile ATTR cardiac amyloidosis. These new drugs have changed the course of the disease for many patients. If appropriate, your doctors will discuss the risks and benefits of this treatment with you.
- Chemotherapy: This is the primary treatment in many AL amyloidosis cases. Chemotherapy includes medications designed to destroy the blood cells that are making the abnormal protein. Henry Ford participates in clinical trials to ensure you have access to the latest therapies for AL amyloid. For selected patients, a peripheral (or autologous) blood stem cell transplant may also be recommended.
- Organ transplant: This may be recommended for selected patients who have advanced staged amyloid of the heart, liver or kidney.
- Genetic counseling: In cases of hereditary amyloidosis, we may recommend genetic testing for you and your family. We will discuss the risks and benefits of testing in detail.