Amyloidosis

Types of Amyloidosis

Amyloidosis is classified based on how the disease develops and presents in the body. It can be:

• Systemic amyloidosis: This type affects multiple organs such as the heart, kidneys, nerves, or liver.
  
  

• Localized amyloidosis: This type is limited to only one organ or tissue.
  
  

The most common systemic types include:

1. AL amyloidosis (primary): Caused by abnormal proteins from bone marrow cells that build up in organs like the heart, kidneys, or nerves. It’s the most common type and needs prompt treatment.

2. AA amyloidosis (secondary): Develops from long-term inflammation, such as arthritis or infections, mainly affecting the kidneys and causing protein buildup.

3. ATTR amyloidosis (transthyretin amyloidosis): Caused by abnormal transthyretin protein from the liver. It may be inherited or develop with aging.
It may be:

- Hereditary (ATTRv)- which affects nerves, heart, kidneys, and eyes.

- Age-related/wild-type (ATTRwt)- which mainly impacts the heart in older adults.

4. Dialysis-related amyloidosis (β2-microglobulin type): Happens in long-term dialysis patients, with protein buildup in joints and bones, causing pain and stiffness.

Important Note: 
Most types of amyloidosis develop over time due to factors like aging, long-term inflammation, or blood-related conditions. Only one type, hereditary ATTR amyloidosis, is inherited through genes, although the same protein can also build up naturally as we age 

Symptoms of Amyloidosis 

The symptoms of amyloidosis depend on which organs are affected and how much amyloid has accumulated. Different organs can be involved simultaneously, leading to a wide range of signs.

Common signs and symptoms include:

• Tiredness and weakness

• Easy bruising or purplish discoloration around the eyes

• Enlarged tongue

• Joint pain.

Heart-related symptoms

• Shortness of breath

• Fast, slow, or irregular heartbeat

• Chest pain

• Low blood pressure, which may cause dizziness or fainting.
  
  

Kidney-related symptoms

• Swelling in the legs, ankles, or feet due to fluid buildup (edema)

• Foamy urine caused by excess protein loss
  
  

Liver-related symptoms

• Pain or discomfort in the upper right abdomen

• Swelling in the stomach
  
  

Gastrointestinal tract-related symptoms

• Nausea

• Diarrhea or constipation

• Loss of appetite

• Unintentional weight loss

• Feeling full soon after eating
  
  

Nerve-related symptoms

• Pain, numbness, or tingling in the hands, feet, or lower legs.
  
  

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Causes of Amyloidosis

Amyloidosis happens when certain proteins in the body lose their normal shape and become sticky. Instead of being broken down and cleared away, these proteins stick together and form clumps called amyloid.

Over time, amyloid builds up in organs and tissues. This makes it harder for them to work properly.

Main cause include:

Genetic changes
Some types of amyloidosis are inherited. Gene changes cause the body to make abnormal proteins. In other people, these changes can happen later in life, and the exact reason is not always known.

Risk Factors for Amyloidosis

Factors that increase your risk of amyloidosis include:

• Age: Most people diagnosed with amyloidosis are middle-aged or older.
  
  

• Sex: AL amyloidosis is slightly more common in men.
  
  

• Chronic inflammatory conditions: Diseases like rheumatoid arthritis can increase the risk of AA amyloidosis.
  
  

• Blood disorders: Around 12–15% of people who develop AL amyloidosis also have multiple myeloma or other plasma cell disorders.
  
  

• Long-term dialysis: People with kidney failure who have been on dialysis for many years can develop a type of amyloidosis caused by a protein called beta-2 microglobulin building up in the body.
  
  

• Family history: Some forms of amyloidosis, like hereditary ATTR, run in families due to gene mutations.
  
  

• Underlying medical conditions: Long-term illnesses that cause ongoing inflammation such as rheumatoid arthritis, tuberculosis, or other persistent infections, can lead to amyloidosis. The body keeps producing certain proteins during inflammation, and these can form amyloid deposits.

Diagnosis of Amyloidosis

Diagnosis often starts with a review of symptoms and a medical check-up which can consist of:

1. History and physical examination

• The doctor first reviews your symptoms, medical history, and family history, followed by a basic physical check-up. 

• Signs like swelling, unexplained weight loss, or heart or kidney issues can point toward amyloidosis and help decide which tests are needed next.
  
  

2. Biopsy and staining

• A small tissue sample is taken - often from abdominal fat, or from an affected organ such as the kidney or heart.

• The sample is stained with a special dye called Congo red. If amyloid is present, it shows a green glow under special light, confirming the diagnosis.
  
  

3. Genetic testing

• It is done when hereditary amyloidosis is suspected, especially if there is a family history or early onset of symptoms.
  
  

4. Identifying the type of amyloidosis

• AL amyloidosis: Blood and urine tests check for abnormal proteins (light chains). A bone marrow biopsy may be done to look for any abnormal cells.
  
  

• ATTR amyloidosis: Genetic testing helps identify inherited forms. Heart scans using special tracers can often detect ATTR without needing a heart biopsy.
  
  

• AA amyloidosis: Doctors may suspect this type in people who have long-term inflammatory diseases, especially if the kidneys or nerves are affected.
  
  

• Dialysis-related amyloidosis: In people on long-term dialysis, blood or urine tests may show high levels of a protein called beta-2 microglobulin (a protein that can build up in the blood, especially in people on long-term dialysis).
  
  

• Advanced techniques: In some cases, doctors may use special lab tests such as immunostaining, mass spectrometry, or radiolabeled SAP scanning to find out the exact amyloid type and track how the disease is progressing. Assessing organ involvement and disease stage

After diagnosis, doctors check how many organs are affected to plan treatment:

• Heart: Echocardiogram (ECG) Cardiac magnetic resonance imaging (MRI), and blood tests to check heart function, such as NT-proBNP and troponin tests
  
  

• Kidneys: 24-hour urine protein test and kidney function tests
  
  

• Liver: Blood tests and imaging, such as ultrasound or MRI (magnetic resonance imaging)

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Prevention of Amyloidosis

Amyloidosis cannot be fully prevented, but early treatment of conditions like chronic inflammation or kidney disease can lower the risk of complications and help prevent AA amyloidosis.

Proper management of kidney disease can also help lower the risk of dialysis-related amyloidosis. In certain inherited conditions, such as familial Mediterranean fever (a genetic condition causing repeated fever and pain episodes), medicines like colchicine may help prevent amyloid from building up.

Doctor to Visit

A general physician is usually the first to evaluate symptoms of amyloidosis and order initial tests. Based on findings, they may refer you to a team of specialists like:

• Hematologist

• Cardiologist

• Nephrologist

• Neurologist

• Gastroenterologist / Hepatologist

• Pulmonologist

• Geneticist

• Nutritionist
  
  

A hematologist diagnoses and treats AL amyloidosis and related blood or plasma cell disorders.

A cardiologist assesses heart involvement and manages complications such as heart failure or rhythm problems.

A nephrologist monitors kidney function and manages protein loss, swelling, or kidney failure.

A neurologist evaluates nerve damage, numbness, tingling, or muscle weakness.

A gastroenterologist or hepatologist manages liver and digestive system involvement.

A pulmonologist evaluates breathing difficulties and lung involvement.

A geneticist identifies hereditary forms of amyloidosis and provides family counselling.

A nutritionist helps maintain adequate nutrition and manage weight loss or digestive issues.

When to see a doctor?

Seek prompt medical care if you experience:

• Persistent fatigue or tiredness, swelling, or unexplained weight loss

• Sudden chest pain or severe breathlessness

• Very low urine output

• Numbness, tingling, or digestive issues
  
  

If these symptoms persist for more than a day or two, or with sudden chest pain, severe breathlessness, or low urine output, see a doctor immediately—don't delay to identify causes and prevent complications.
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Treatment of Amyloidosis

The main aim of the treatment  is to reduce abnormal protein production and manage organ damage. It consists of:

1. Treatment for AL amyloidosis (light chain amyloidosis)

This is the main treatment to destroy abnormal plasma cells.

• Chemotherapy (main treatment): Medicines that kill the abnormal cells that make the amyloid protein.           Examples include: Bortezomib, Cyclophosphamide, Dexamethasone, Melphalan

• Combination therapy: Doctors may use two or more medicines together for better results.
  Examples are: CyBorD (Cyclophosphamide + Bortezomib +  Dexamethasone)
  Often combined with Daratumumab
  

• Targeted Therapy: Acts more specifically on disease-causing cells.
  Examples include: Lenalidomide, Pomalidomide, Ixazomib, Daratumumab

• High-dose chemotherapy with stem cell transplant (autologous transplant): High-dose Melphalan chemotherapy is given. Stem cells are infused back to restore healthy blood cells
  
  

2. Treatment for hereditary ATTR amyloidosis (ATTRv)

Caused by a gene mutation affecting the transthyretin (TTR) protein.

• Liver transplant: May be advised in early-stage disease since the liver makes most TTR protein.
  
  

• TTR gene silencers: Medicines that reduce the protein causing amyloid buildup.
  Example: Patisiran, Inotersen
  
  

• TTR stabilizers: Medicines that stop the protein from clumping into amyloid.
  Example: Tafamidis, Acoramidis 

3. Treatment for Wild-Type ATTR Amyloidosis (ATTRwt)

Usually affects older adults.

• Tafamidis and Acoramidis may help stabilize the protein.

• Focus is also on managing heart symptoms.

4. Treatment for AA Amyloidosis

This type develops due to long-term inflammation or infection. The main treatment is to control the underlying diseases.

• Treatment for conditions such as rheumatoid arthritis, inflammatory bowel disease or infections.

• A kidney transplant may be done in cases of kidney failure.

5. Organ transplant (in advanced cases)

If organs are severely damaged, options may include a heart transplant, a kidney transplant, or a liver transplant.

Treatment of complications of Amyloidosis

1. Medicines for Kidney-related problems

• ACE (angiotensin-converting enzyme) inhibitors: It relaxes blood vessels, lower blood pressure, and reduces strain on the heart and kidneys.
  Example: Enalapril, Ramipril
  
  

• ARBs (angiotensin II receptor blockers): These lower blood pressure and slow kidney disease progression.
  Example: Losartan, Telmisartan
  
  

• Diuretics: These medications help remove excess fluid and reduce swelling.
  Example: Furosemide, Spironolactone
  
  

• Iron supplements: It is recommended if anemia (low red blood cells) develops due to kidney involvement or chronic illness, helping improve energy and reduce fatigue.
  
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• Erythropoiesis-stimulating agents (ESAs): Help treat anemia by increasing red blood cell production.

2. Kidney replacement therapy

• Hemodialysis: A machine outside the body filters waste and extra fluid from your blood when your kidneys can’t.
  
  

• Peritoneal dialysis: A special fluid is put into your belly, which absorbs waste and fluid inside your body, which is then drained out.
  
  

• Kidney transplant: If kidney failure occurs.

3. Surgery

May be advised in certain cases to:

• Reduce joint pain and improve movement

• Remove amyloid-damaged tissue or tumors.
  
  

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Complications of Amyloidosis

Amyloidosis can affect different organs over time. When abnormal proteins build up, they may interfere with normal body functions and lead to the following complications:

• Heart problems: Protein deposits can make the heart stiff, causing chest discomfort, irregular heartbeat, dizziness, and low blood pressure.
  
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• Heart failure: If the heart becomes too weak to pump blood effectively, it can lead to severe breathlessness, swelling in the legs, and extreme tiredness.
  
  
• Enlarged tongue: The tongue may increase in size, making it painful or difficult to speak, chew, or swallow.
  
  
• Poor blood flow: Reduced blood supply to the legs or jaw can cause pain during walking or while chewing.
  
  
• Skin and hair changes: Amyloid in the skin can lead to hair thinning or patchy hair loss.
  
  
• Digestive bleeding: Deposits in the stomach or intestines can cause internal bleeding, poor nutrient absorption, weakness, and serious health risks if not treated.

Living with Amyloidosis

Although amyloidosis is a long-term condition, the right self-care habits can help you feel more in control. Daily lifestyle adjustments can ease symptoms, protect your organs, and support better day-to-day comfort.

• Manage fatigue: Take regular rest breaks and avoid overdoing activities. Light walks or gentle stretches can help keep your strength up.
  
  

• Reduce swelling (edema): Raise your legs when sitting and avoid standing too long. A low-salt diet can help prevent fluid buildup and protect your heart and kidneys.
  
  

• Protect your heart: Too much salt can make swelling and breathlessness worse. Choose fresh, low-salt meals, avoid packaged foods, and follow your doctor’s advice.
  
  

• Support kidney health: If your kidneys are affected, watch protein intake and check phosphorus or potassium levels as advised by your doctor. Take medications as prescribed.
  
  

• Ease breathlessness: Use extra pillows while sleeping and avoid heavy physical exertion, especially if your heart is affected.
  
  

• Support digestion: Eat small, frequent meals with soft, easy-to-digest foods to help with nausea, poor appetite, or feeling full quickly.
  
  

• Stay hydrated wisely: Drink fluids as recommended. People with heart or kidney problems may need to limit fluids carefully.
  
  

• Maintain strength and nutrition: Balanced meals with enough calories help prevent weight loss, maintain energy, and reduce tiredness.

Need help planning the right diet? Talk to a doctor or dietitian who can design a meal plan tailored to the organs affected and your overall health.
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