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Amyloidosis is a rare disorder caused by the abnormal buildup of a protein called amyloid in your tissues and organs. Amyloid is not normally found in your body, and its accumulation means that the tissues and organs cannot function properly: this can lead to life-threatening organ failure.
Men are more likely to get amyloidosis than women. People of African descent are at a higher risk of a genetic mutation that is associated with a specific type of amyloidosis that affects the heart.
Overall, there are approximately 4000 new cases of amyloidosis in the United States every year. Most people are diagnosed with amyloidosis between ages 50 and 65 years old, but people as young as 20 years old may be diagnosed. Most cases of amyloidosis are fatal, with patients surviving 1 to 2 years after diagnosis.
New diagnoses of amyloidosis are rare during pregnancy, but pre-existing amyloidosis can lead to serious complications for mother and child.
Types of amyloidosis
There are different types of amyloidosis, and they are distinguished by the cause of the protein buildup and the location of the amyloid deposits.
AL amyloidosis is the most common type; it used to be called primary amyloidosis. “AL” stands for “amyloid light chains,” which is the specific protein responsible for this type of amyloidosis. There is no known cause of AL amyloidosis, but it occurs when the bone marrow makes abnormal antibodies that cannot be broke down by your body. It is often associated with a blood cancer called multiple myeloma, and it can cause dysfunction in the kidneys, heart, liver, intestines, and nerves.
AA amyloidosis was previously called secondary amyloidosis. This is amyloidosis caused by another condition such as chronic infections or autoimmune diseases. “AA” stands for amyloid protein type A. This type of amyloidosis mostly affects the kidneys, but it can also affect the digestive tract, liver, and heart.
Familial Mediterranean Fever (FMF) is a genetic disease that mainly affects people in the region of the Mediterranean basin, including those of Turkish, Armenian, Arab, and non-Ashkenazi Jewish descent. FMF’s main complication is AA amyloidosis that affects the kidneys.
Other types of amyloidosis include dialysis-related amyloidosis (DRA), familial (hereditary) amyloidosis, age-related systemic amyloidosis, and organ-specific amyloidosis. These are rarer than the AA and AL types and affect a variety of organs. Amyloid plaques have been identified in Alzheimer’s disease, but these differ from the protein deposits in amyloidosis: the brain is rarely affected by amyloidosis.
Pre-existing amyloidosis can complicate a pregnancy and cause miscarriage, stillbirth, intrauterine growth restriction, preeclampsia, and preterm birth. Additionally, amyloidosis can cause renal damage during pregnancy.
Amyloidosis symptoms
Symptoms of amyloidosis are often subtle and hard to identify. They also vary greatly depending on the type of amyloidosis and what organs are affected. Many of the symptoms overlap with those of other diseases, so it is important to discuss your symptoms with your doctor in order to ensure an accurate diagnosis. You will likely undergo laboratory tests, a biopsy, and imaging tests such as an MRI or echocardiogram in addition to a complete physical exam.
Symptoms of amyloidosis include the following:
- Skin changes such as thickening, easy bruising, and purplish patches around the eyes
- Severe fatigue
- Feeling of fullness
- Joint pain
- Anemia (low red blood cell count)
- Shortness of breath
- Swelling of the tongue
- Tingling and numbness in legs and feet
- Swelling of ankles and legs
- Weak hand grip
- Severe weakness
- Sudden weight loss
- Irregular heartbeat
- Difficulty swallowing
Treatment of amyloidosis
Amyloidosis has no cure. Treatment is aimed at slowing the development of protein deposits and managing the symptoms. Specific treatments will depend on the type, severity, and location of amyloidosis and may include the following:
- Chemotherapy
- Stem-cell transplant
- Steroids
- Liver or kidney transplant
- Diuretic medications
- Compression stockings to relieve swelling
- Dietary changes
Amyloidosis in Pregnancy
Pre-existing amyloidosis can complicate a pregnancy and cause miscarriage, stillbirth, intrauterine growth restriction, preeclampsia, and preterm birth. Additionally, amyloidosis can cause renal damage during pregnancy.
If you have amyloidosis, speak with your doctor before you try to conceive or as soon as you find out you are pregnant.
