Amyloidosis

Amyloidosis is a rare condition where a protein called amyloid builds up in different parts of the body. This buildup can harm the organs, making them work less effectively.

Amyloid can accumulate in vital organs like the heart, kidneys, liver, spleen, nerves, and the digestive system. This means these organs might not be able to do their jobs properly.

Sometimes, amyloidosis happens alongside other health problems. If this is the case, treating the underlying condition might help improve the amyloidosis. However, in other instances, amyloidosis can lead to serious problems, even organ failure, which could be life-threatening.

Treating amyloidosis can involve powerful medicines typically used to treat cancer, called chemotherapy. Other medications are available to help reduce the production of amyloid and manage symptoms. In some cases, a transplant of an organ or stem cells might be an option.

Amyloidosis can cause small blood vessels in the skin to leak blood, resulting in a condition called purpura. This often shows up as reddish-purple spots, especially around the eyes, but can appear elsewhere on the body.

Another possible sign of amyloidosis is a swollen tongue (macroglossia). Sometimes, the tongue might have a wavy or uneven edge.

It's important to know that amyloidosis symptoms might not appear until the disease is quite advanced. The specific symptoms you experience depend on which parts of your body the disease affects.

Amyloidosis can manifest in various ways. Common signs and symptoms include:

• Extreme tiredness and weakness: Feeling constantly exhausted and lacking energy.
• Difficulty breathing: Shortness of breath can be a significant problem.
• Numbness, tingling, or pain in the hands or feet: These sensations can range from mild discomfort to intense pain.
• Swollen ankles and legs: Fluid buildup in the lower extremities can cause swelling.
• Changes in bowel habits: This can include diarrhea (sometimes with blood) or constipation.
• Swollen tongue (macroglossia): The tongue may appear larger than usual, sometimes with a wavy or uneven edge.
• Skin problems: Amyloidosis can cause skin thickening, easy bruising, or purplish patches, especially around the eyes.

These are just some of the potential signs. If you're concerned about these symptoms, it's crucial to see a doctor for proper diagnosis and treatment.

If you frequently notice symptoms related to amyloidosis, it's important to talk to your doctor.

Amyloidosis is a group of diseases where abnormal proteins build up in organs and tissues. This buildup, called amyloid, can damage these organs. There are several different types of amyloidosis, some passed down through families (hereditary) and others caused by other conditions like inflammation or long-term dialysis.

Some types affect many organs, while others only impact one area of the body. Here are some examples:

• AL amyloidosis (also called primary amyloidosis): This is the most common type in developed countries. The abnormal protein comes from a type of antibody called an immunoglobulin light chain. This type often affects the heart, kidneys, liver, and nerves.

• AA amyloidosis (also called secondary amyloidosis): This type is usually linked to an inflammatory condition, like rheumatoid arthritis. It most commonly affects the kidneys, liver, and spleen. The abnormal protein in this case is often a result of the body's response to the inflammation.

• Hereditary amyloidosis (also called familial amyloidosis): This type is inherited. It often targets the nerves, heart, and kidneys. A protein called transthyretin (TTR), made by the liver, is usually the culprit. If the gene for making this protein is faulty, the body produces an abnormal version of TTR that forms amyloid.

• Wild-type amyloidosis (sometimes called senile systemic amyloidosis): In this type, the TTR protein itself is normal, but for reasons not yet fully understood, it forms amyloid. This type often affects men over 70 and frequently targets the heart. It can also cause carpal tunnel syndrome, a condition that affects the nerves in the wrist.

• Localized amyloidosis: This type often affects only one part of the body, like the bladder, skin, throat, or lungs. Importantly, the prognosis (outlook) for localized amyloidosis is usually better than for types that affect many organs. This is why accurate diagnosis is crucial so that treatments that affect the entire body can be avoided if possible. The focus of treatment can then be more targeted.

Amyloidosis risk factors include several things:

• Age: Most people diagnosed with amyloidosis are 60 to 70 years old. This means age is a significant factor. As people get older, their bodies may be more susceptible to the conditions that can lead to amyloidosis.

• Gender: Amyloidosis is more often found in men than women. Doctors aren't entirely sure why this is the case, but it's important to consider as a risk factor.

• Underlying health conditions: Having a long-term (chronic) illness that involves inflammation or infection can raise your risk of a type of amyloidosis called AA amyloidosis. Think of conditions like rheumatoid arthritis, inflammatory bowel disease, or some infections. These conditions can cause the body to produce proteins that can lead to amyloidosis if not managed properly.

• Family history: Some forms of amyloidosis can run in families. If you have a family member with amyloidosis, you might have a higher chance of developing it yourself. This is because some types of amyloidosis are caused by inherited genetic mutations.

• Kidney dialysis: Kidney dialysis is a treatment for kidney failure. Sometimes, dialysis doesn't completely remove certain large proteins from the blood. Over time, these abnormal proteins can build up and be deposited in tissues, leading to amyloidosis. Modern dialysis techniques are often better at preventing this complication.

• Race: People of African descent seem to have a higher chance of carrying a gene mutation that can cause a type of amyloidosis that harms the heart. While this is a risk factor, it's important to understand that not everyone of African descent will get this type of amyloidosis.

It's important to note that having one or more of these risk factors doesn't automatically mean you'll develop amyloidosis. It's just that these factors increase your chances. If you have concerns about your risk, it's best to talk to your doctor.

Amyloidosis is a condition where a protein called amyloid builds up in organs, potentially causing serious damage. This buildup can harm several vital organs, including:

The Heart: Amyloid deposits in the heart make it harder for the heart to fill with blood between beats. This means less blood is pumped out with each beat, leading to reduced blood flow to the rest of the body. This can cause shortness of breath, as your body isn't getting enough oxygen. Additionally, if the amyloid affects the heart's electrical system, it can disrupt the heart's rhythm, leading to potentially life-threatening heart problems like irregular heartbeat (arrhythmias).

The Kidneys: Amyloid can damage the filtering system in the kidneys. This filtering system is crucial for removing waste products from the blood and keeping the body's fluids balanced. When damaged, the kidneys can't effectively do this job. Over time, this can lead to kidney failure, a condition where the kidneys can no longer function properly, requiring dialysis or a kidney transplant.

Amyloidosis is sometimes hard to spot because its symptoms can be similar to those of more common illnesses. Catching it early is key to preventing further damage to your organs. This is important because the best treatment depends on the exact type of amyloidosis you have.

Diagnosing Amyloidosis:

Doctors use several tests to diagnose amyloidosis:

• Lab Tests: Blood and urine samples are checked for unusual proteins. These proteins can be a sign of amyloidosis. The doctor might also order tests to check your thyroid and kidneys, especially if you have certain symptoms.

• Biopsy: A small tissue sample is needed to look for signs of amyloidosis. This sample might come from the fat under the skin in your abdomen, your bone marrow, or even a damaged organ like your liver or kidney. The tissue sample helps determine the specific type of amyloid involved.

• Imaging Tests: Different imaging techniques can show how amyloidosis is affecting your organs:

  • Echocardiogram: This uses sound waves to create moving pictures of your heart. It can show how well your heart is working and if there's any damage, especially damage specific to certain types of amyloidosis.
  • Magnetic Resonance Imaging (MRI): MRI uses radio waves and a strong magnet to create detailed images of organs and tissues. It can help check the structure and function of your heart.
  • Nuclear Imaging: A tiny amount of radioactive material (tracer) is injected into your vein. This can show early heart damage caused by some types of amyloidosis, and can help tell different types of amyloidosis apart, which is important for choosing the right treatment.

Getting Care for Amyloidosis at Mayo Clinic:

Mayo Clinic has a team of experts who specialize in amyloidosis. They can provide the care you need to manage your condition. You can find more information and resources about amyloidosis care at Mayo Clinic here. Urinalysis is also a possible test to help diagnose amyloidosis.

Amyloidosis has no cure, but treatment can help manage the symptoms and slow the buildup of harmful proteins. If another condition, like rheumatoid arthritis or tuberculosis, is causing the amyloidosis, treating that underlying problem can be beneficial.

Several different approaches are used to manage amyloidosis:

• Chemotherapy: Some cancer drugs are used to try to stop the abnormal cells producing the proteins that lead to amyloid deposits, especially in a type of amyloidosis called AL amyloidosis.

• Heart Medications: If the heart is affected, treatments might include blood thinners to prevent blood clots, medications to control heart rate, and drugs that increase urination to reduce strain on the heart and kidneys.

• Targeted Therapies: For certain types, specific drugs can help. Some drugs, like patisiran (Onpattro) and inotersen (Tegsedi), work by interfering with the instructions from faulty genes that create the amyloid proteins. Other drugs, like tafamidis (Vyndamax, Vyndaqel) and diflunisal, help keep the proteins from changing into amyloid deposits.

• Stem Cell Transplant: This procedure involves collecting a person's own stem cells, which are special blood cells, from their blood and temporarily storing them. High-dose chemotherapy is then given, after which the stem cells are put back into the body. This is often a good option for people whose disease isn't too advanced and whose heart isn't severely affected.

• Dialysis: If kidney function is damaged by amyloidosis, dialysis may be needed. Dialysis uses a machine to filter waste products, salts, and extra fluid from the blood on a regular basis.

• Organ Transplant: In very severe cases where the heart or kidneys are significantly damaged by amyloid deposits, a transplant may be necessary. Since amyloid can sometimes build up in the liver, a liver transplant might help stop the production of amyloid in those cases.