Alleviating Amyloidosis
Your ankles are swollen with fluid. You feel tired before you even get started. You wake up with bruises around your eye. You could have amyloidosis.
Amyloidosis is a rare and potentially fatal disease that occurs when substances called amyloid proteins build up in the body’s organs. Amyloid is an abnormal protein usually produced by cells in bone marrow that can be deposited in any tissue or organ.
It is estimated that about 4,000 people develop AL amyloidosis each year in the United States. The disease is typically diagnosed between ages 50 to 65.
Just think of amyloid as a gooey protein made by plasma cells. Like lava from an erupting volcano, amyloid oozes into many body organs and disrupts their function. Amyloid deposits can affect the kidneys, nerves, gastrointestinal tract, and the eyes, as well as the heart and liver.
Some common signs and symptoms of amyloidosis include swelling of the ankles and legs, severe fatigue and weakness, shortness of breath with minimal exertion, diarrhea possibly with blood or constipation, and an enlarged tongue which sometimes looks rippled around its edges.
There are several types of amyloidosis. AL (amyloid light chain buildup) amyloidosis is the most common type of amyloidosis, is also known as primary amyloidosis. Sometimes it occurs with multiple myeloma (cancer of plasma cells), sometimes on its own. It is not the result of some other disease. It usually affects the heart, kidneys, liver, and nerves.
AA amyloidosis or secondary amyloidosis is an after-effect of chronic inflammation and infection, such as from tuberculosis or rheumatoid arthritis. With any inflammation a protein that circulates in the blood goes up quite rapidly. That’s not the problem. Secondary amyloidosis results when it goes up and stays up for years and years, then lays down in solid chunks in an organ. AA symptoms may include protein in the urine, edema, and fatigue.
Inherited forms of the disease are usually designated ATTR for the presence of transthyretin protein, made in the liver. Researchers have found more than 50 different mutations of transthyretin. There are other proteins, as well, but they are truly rare. Sometimes it shows up in pockets.
Wild-type amyloidosis occurs when the transthyretin protein made by the liver is normal but produces amyloid for some unknown reason. Once known as senile systemic amyloidosis, this type of amyloidosis tends to affect men over age 70. It typically targets the heart. It may cause carpal tunnel syndrome.
Localized amyloidosis has a better prognosis than the types that affect multiple organ systems. Sites for localized amyloidosis include the lungs, bladder, skin, and throat.
Factors that may raise your risk of amyloidosis are age (it is usually diagnosed between ages 60 and 70 though one can be diagnosed at an earlier age), sex (men tend to be diagnosed more than women), other diseases, family history, kidney dialysis, and race (people of African descent seem to be at higher risk of carrying a genetic mutation linked to a type of amyloidosis that can harm the heart).
Diagnosis of amyloidosis involves having laboratory tests done where your blood and urine will be analyzed for abnormal protein. Your doctor may want to perform a biopsy where a tissue sample will be taken and checked for amyloidosis. Imaging tests such as an echocardiogram, magnetic resonance imaging (MRI), and nuclear imaging will be able to tell which organs are affected.
Treatment is as varied as the disease itself. Once the cause is determined, medication and a tightly controlled diet may arrest it. For some, stem cell transplantation is the only viable option. Others go on a regimen of chemotherapy. Or both. People with inherited forms of the disease usually need a liver transplant.
Patients are often referred to oncologists for treatment, even though amyloidosis is not a cancer. They have the expertise with chemotherapy. None of the treatments are completely free of side-effects and the chemotherapy medications are, by design, very toxic.
How successful treatment is depends on what organ is affected and the expertise of your medical team. Large medical centers like Mayo Clinic have seen quite a few cases while a small hospital in a rural community may never encounter a case.
Amyloidosis usually has a poor life expectancy rate. The median survival rate without treatment is only 13 months. Cardiac involvement has the worst prognosis and results in death in about 6 months after onset of congestive heart failure. Only 5 percent of the patients with primary amyloidosis survive after 10 years.
For some, there is a cure. If it’s caused by tuberculosis, for instance, sticking closely to the treatment protocol eradicates the underlying cause, then the amyloid backup can be tackled. Learning what it is before protein buildup becomes lethal is crucial. And people with chronic inflammation conditions like rheumatoid arthritis need to seek treatment, rather just living with it, because there can be serious complications, like amyloidosis, down the road if inflammation is not controlled.
