A disease in which abnormal proteins build up in the tissues and organs is called amyloidosis. These buildups usually affect the organ’s shape and function. This is a serious disease that can lead to life-threatening organ failure.
Symptoms
The symptoms often differ among people because it depends on where proteins build up. Moreover, the symptoms listed below are similar to other health conditions. That’s why only the doctor can diagnose this condition. For example:
- Skin color change
- Fatigue (extreme tiredness)
- Feeling of fullness
- Joint pain
- Anemia (decreased red blood cell count)
- Tongue swelling
- Shortness of breath
- Numbness and tingling in feet and legs
- Weak hand grip
- Severe weakness
- Unexplained and sudden weight loss
Immediately contact a healthcare professional if you notice any of the previous symptoms.
Causes
There are different proteins that can build up and cause amyloidosis. However, only some of them can provoke serious health problems. The type of amyloidosis depends on the protein type and where it builds up. Check below some amyloidosis causes:
- AL amyloidosis (immunoglobulin light chain amyloidosis) – It is one of the most common amyloidosis types and experts do not know the exact cause of why it occurs. However, when the bone marrow produces certain antibodies that cannot be broken down AL amyloidosis happens. Mostly, it is associated with blood cancer (multiple myeloma) but it also can impact your kidneys, liver, intestines, and nerves.
- AA amyloidosis – Also known as secondary amyloidosis. This type is commonly caused by an infectious or inflammatory disease including Crohn’s disease, rheumatoid arthritis, or ulcerative colitis. In most cases, AA amyloidosis affects kidneys but can also impact your digestive tract, liver, and heart.
- Dialysis-related amyloidosis (DRA) – This amyloidosis type is usually diagnosed in older people who have been on dialysis (for more than 5 years). The build-up of beta-2 microglobulin in the blood provokes DRA. Mostly, this type affects tendons, joints, and bones.
- Familial or hereditary amyloidosis – It is a quite rare form of amyloidosis that usually runs in families. This type often impacts the liver, nerves, heart, and kidneys. Furthermore, different genetic defects can provoke this condition (for example an abnormal protein called transthyretin-TTR).
- Age-related systemic amyloidosis – The main cause of this amyloidosis type is build-ups of TTR in the heart and other tissues. Older men are more likely to develop this type of amyloidosis.
- Organ-specific amyloidosis – In such cases, the proteins deposit in a single organ (such as skin). This type is called cutaneous amyloidosis.
Risk Factors
The risk of this medical condition increases as people age. In any case, men are more likely to develop amyloidosis than women. Approximately 15% of patients with multiple myeloma develop amyloidosis. This disease also can occur in those who suffer from end-stage kidney disease.
Amyloidosis Types
Cardiac Amyloidosis
This medical condition happens when less blood flow to the heart muscle. As a result, the heart is become unable to pump blood normally. Cardiac amyloidosis is also known as stiff heart syndrome. In case stiff heart syndrome is not treated, it may lead to congestive heart failure because this condition negatively affects the heart’s electrical rhythm and makes it weaker.
People over 40 years old are more likely to develop this amyloidosis type. In addition, check below some factors that can increase your risk of cardiac amyloidosis:
- Have hypertension (high blood pressure) and not treating it
- Obesity
- You are over 60 years old
- Have gone through menopause
Check below some cardiac amyloidosis symptoms:
- Shortness of breath
- Irregular heartbeat
- Swelling of the feet and ankles
- Fatigue
- Nausea
Renal Amyloidosis
The kidneys are an important part of the body and they are responsible for filtering waste and toxins from the blood. When the abnormal proteins deposit in the kidneys they provoke this amyloidosis type. Thus, kidneys cannot do their job, and water and toxins begin to build up in the body. Swelling of the feet and ankles, puffiness around the eyes, and increased levels of protein in the urine are symptoms that people usually experience when this amyloidosis type happens.
Gastrointestinal Amyloidosis
In this case, abnormal proteins build up in the gastrointestinal (GI) tract. Hence, it slows the movement of food through the intestines. This effect can cause digestive problems. Check below GI amyloidosis symptoms:
- Diarrhea
- Nausea
- Stomach pain
- Weight loss
- Decreased appetite
Amyloid Neuropathy
This type impacts the nerves outside the brain and spinal cord (peripheral nerves). These nerves carry information between the brain, spinal cord, and the rest of the body. Check below some common symptoms of amyloid neuropathy:
- Balance problems
- Sweating problems
- Weakness
- Tingling
- Lightheadedness
- Problems controlling bowel and bladder
Diagnosis
Physicians also perform a physical examination and can order you to do some tests (such as blood and urine tests). They help to determine the amount of abnormal proteins in the urine and blood. Usually, to confirm the diagnosis doctors can perform a biopsy (a test in which your doctor will take a small sample of an organ). Imaging tests also can help physicians to confirm this condition.
Additionally, a genetic test is possible if your doctor suspects your amyloidosis passed through families. However, treatment for hereditary amyloidosis is different from others.
Treatment
Unfortunately, this medical condition cannot be cured. However, treatments can help you to lessen the symptoms and improve your quality of life. Commonly, the treatment depends on the underlying cause and the severity of the condition. Check below some treatment options:
- High-dose chemotherapy is used in some people with primary AL amyloidosis. Mostly, it is used along with a stem cell transplant.
- Physicians prescribe steroid medications to treat secondary (AA) amyloidosis. These medications help to decrease inflammation and treat the underlying disease.
- In case you have hereditary amyloidosis, doctors may perform a liver or kidney transplant.
- There are some new therapies that help to reduce abnormal protein build-up. Discuss with your doctor for more details.
Check below for additional treatment methods that help to relieve the symptoms:
- Diuretic drugs (remove excess water from the body).
- Compression stocking (helps to reduce swelling in the legs or feet).
- Your doctor may help you to adopt a healthy diet based on your condition.
Frequently Asked Questions
What is life expectancy in people with amyloidosis?
In most severe cases, life expectancy can be 6 months while in less severe cases, people can live 8-10 years after diagnosis. Consult with your healthcare provider for more details.
What are the primary amyloidosis causes?
Mostly, this disease is provoked by inflammatory diseases or chronic infections. For example rheumatoid arthritis, frequent fevers, tuberculosis, and others.
What are the symptoms of the end-stage amyloidosis?
- Tongue swelling
- Diarrhea
- Constipation
- Swelling of the ankles and legs
- Numbness in the limbs
- Breathing problems
- Extreme tiredness (fatigue)
- Weakness
Ask your healthcare professional if you have any other questions.
