Amyloidosis – Symptoms, Causes, and Treatment
Symptoms, causes, and treatment options are all covered in this article. It is important that you know all of the facts before deciding whether or not you should seek treatment. Luckily, there are many options available to help you.
Symptoms
Symptoms of amyloidosis can vary depending on the type of amyloid deposits found in the body. Some symptoms include fatigue, weakness, diarrhea, constipation, and an irregular heartbeat.
Amyloidosis is a rare disease that occurs when an abnormal protein called amyloid builds up in an organ. It can also cause organ failure. The heart, kidneys, lungs, spleen, and digestive tract are among the organs affected.
Patients with amyloidosis may experience an irregular heartbeat, foamy urine, constipation, diarrhea, or a weak grip. They may also have purple patches on the skin around the eyes or bruising. They may also experience fatigue, low blood pressure, and anemia.
If amyloidosis affects the kidneys, the kidneys can become foamy, enlarged, or develop swelling in the legs. The kidneys also may become inflamed, causing pain in the upper abdomen. The kidneys may also develop kidney failure.
Amyloidosis can also affect the nervous system. Patients with this condition may experience carpal tunnel syndrome or peripheral neuropathy.
Amyloidosis can be fatal if it affects the heart or kidneys. Some types of amyloidosis, such as AA amyloid deposits, can cause kidney failure. This is because the protein can not be removed from the bloodstream.
AA amyloid deposits can also build up in the digestive tract and bones. Symptoms of amyloidosis in the digestive tract include constipation, bloating, diarrhea, and gas. Patients may also have swelling of the tongue and stomach.
Amyloidosis can also lead to a rash around the eyes. It can also cause easy bruising. It may also affect the heart’s electrical system, which can lead to heart complications.
Amyloidosis can be treated with medications and surgery. Treatments can reduce symptoms and improve the patient’s quality of life.
Causes
Various diseases, infections, and inflammatory processes can lead to the development of amyloidosis. These can be inherited or acquired. In both cases, symptoms depend on the organ affected. For example, if the kidney is involved, patients may develop nephrotic syndrome. Similarly, the cardiovascular system may also be affected. If the heart is affected, patients may have cardiac failure.
The deposition of amyloid fibrils can cause damage to organs. These fibrils are resistant to proteolytic digestion, which means that they cannot be broken down. They accumulate in various tissues, including the kidney, heart, liver, lungs, and skin.
A protein called immunoglobulin light chain is associated with amyloidosis. It is produced by plasma cells. It is a precursor protein that forms amyloid fibrils. These fibrils have a b-pleated sheet structure and are insoluble. They are found in lymphomas and plasma cell neoplasms.
Another type of amyloidosis is autoimmune. In this type, the proteins misfold and form fibrils. In this type of amyloidosis, a person’s immune system mistakes the amyloid protein for a normal protein and attacks it. A person who has this type of amyloidosis may develop multiple myeloma, a cancer of the blood and bone marrow. It can be identified with urine electrophoresis and serum-free light chain assay.
Another type of amyloidosis, called familial amyloidosis, is caused by mutations in a gene. It is found in older patients. The most common gene mutated in familial amyloidosis is transthyretin. Besides the heart and kidney, this type of amyloidosis can also affect the nerves and liver.
If the patient is diagnosed with amyloidosis, medications can be given to help the heart function properly. A dialysis treatment may be required. These treatments can help prevent the further development of the disease. The patient may also be given chemotherapy.
Diagnosis
Depending on the nature of the disorder, the treatment aims to control the underlying disorder. Treatments for amyloid can include steroids and powerful anti-inflammatory drugs. Other treatments may include a kidney transplant.
A tissue biopsy is important for diagnosing amyloid. A biopsy can be taken from the liver, kidney, stomach, or other organs. This is necessary to confirm the presence of amyloid and its chemical sub-typing.
The most commonly affected organs are the heart and liver. Cardiac amyloidosis can affect the heart muscle and restrict its function. This can cause a stiff heart and lead to congestive heart failure. Some symptoms of cardiac amyloidosis include breathlessness, irregular heartbeat, and reduced blood flow to the heart muscle.
The symptoms of the amyloid disease vary from person to person. Some people may have muscle weakness, joint abnormalities, or swelling. Others may experience constipation, difficulty swallowing, or heartburn. Another symptom may be numbness or pins and needles in the hands and feet. Some patients may also have carpal tunnel syndrome, which is a pinched nerve.
In addition, patients may develop skin thickening and loss of color. A patient may also develop a papular lesion, which is a waxy scaly lesion. These lesions can appear on the face, axilla, neck, or groin.
Blood tests can help detect abnormal proteins, but it’s important to have a tissue biopsy to be sure of the diagnosis. If the biopsy results are indeterminate, a sample should be sent for mass spectrometry. Mass spectrometry is an increasingly sophisticated test that can help identify the type of amyloid in a sample.
Another important test for diagnosing amyloid is the urine test. This test can identify the amyloid protein in the blood.
Treatment options
Depending on the type of amyloid protein in your blood or urine, treatment options for amyloidosis vary. Some patients may need an organ transplant, while others may be able to treat their disease with medication.
Treatment options for amyloidosis can include chemotherapy, biological agents, and other medications. These therapies are designed to destroy abnormal cells, preventing the accumulation of amyloid proteins in the body. They can also be used to prevent the re-occurrence of amyloid deposits.
Some treatments for amyloidosis are designed to target specific proteins or genes. They can interfere with commands sent by faulty genes, which may reduce the growth of abnormal cells.
For some patients, peripheral blood stem cell transplantation may be useful. The procedure involves collecting stem cells from the blood, storing them in high doses of chemotherapy, and then transplanting them into the body.
Some people may also need to undergo a biopsy of an organ affected by amyloidosis. The biopsy is a procedure that involves the removal of a small amount of tissue from the affected organ. The tissue is then evaluated by a pathologist.
Patients can also take part in clinical trials to test new treatments. These trials are designed to help discover new combinations of standard drugs. Often, the patient and their physician work together to determine the best treatment.
Patients may need to undergo invasive procedures, such as a liver transplant or kidney transplant. This may not be appropriate for everyone. For many patients, organ transplantation is a life-saving treatment. Symptoms of kidney and liver failure may include swelling, pain, and difficulty processing waste.
For some patients with hereditary amyloidosis, treatment options include Onpattro (Tegsedi), a drug that has shown promise in treating polyneuropathy.
Supportive care
Depending on the type of amyloidosis you are dealing with, there are a variety of supportive care services available to you. These services include a team of physicians, nurses, nutritionists, and other specialists, who work together to provide the best care for your individual needs.
If you are suffering from amyloidosis, it is important that you get a proper diagnosis as soon as possible to prevent further damage to your organs. There are several tests that can be used to diagnose amyloidosis, such as a bone marrow biopsy.
Amyloidosis can affect the heart, the digestive tract, and the kidney. Patients who are diagnosed with amyloidosis may need to undergo further therapy to address their condition. Depending on the type of amyloidosis, patients may also need to undergo kidney or liver transplants. These transplants can help to double the median survival rate of patients with hereditary amyloidosis.
Other common symptoms of amyloidosis include dizziness, shortness of breath, and numbness of the hands and feet. Patients can also develop complications in their heart’s electrical system, which can lead to arrhythmias. A defibrillator may also be needed for these patients.
Supportive care for amyloidosis includes a variety of services that are available to patients, such as nutritionists, acupuncturists, and blood disorders specialists. Some patients may also benefit from a liver transplant, which removes the main source of a mutant transport protein called transthyretin.
If you have amyloidosis, you should consult with a doctor who is experienced in treating amyloidosis patients. This doctor can screen patients for amyloid organ dysfunction. He or she can then determine whether a biopsy of an affected organ is needed. Most patients can be spared this test, but they may need to undergo therapy to address their amyloidosis.
Health Sources:
Health A to Z. (n.d.). HSE.ie. https://www2.hse.ie/az/
U.S. National Library of Medicine. (n.d.). https://www.ncbi.nlm.nih.gov/
Directory Health Topics. (n.d.). https://www.healthline.com/directory/topics
Health A-Z. (2022, April 26). Verywell Health. https://www.verywellhealth.com/health-a-z-4014770
Harvard Health. (2015, November 17). Health A to Z. https://www.health.harvard.edu/health-a-to-z
Health Conditions A-Z Sitemap. (n.d.). EverydayHealth.com. https://www.everydayhealth.com/conditions/
