Amyloidosis – Symptoms and Causes

Overview

Amyloidosis happens when proteins called amyloids build up in the body’s organs, causing them to work poorly. This rare condition can affect many parts of the body. These include the heart, kidneys, liver, spleen, nervous system, and digestive tract.

Some types of amyloidosis develop alongside other diseases and may improve when those conditions are treated. However, certain forms can progress to dangerous organ failure if left untreated.

Treatment options include:

• Cancer-fighting chemotherapy drugs
• Medications that reduce amyloid production
• Therapies to manage symptoms
• Organ transplants in some cases
• Stem cell transplants for eligible patients

Early diagnosis and proper treatment are important for managing this condition and preventing serious complications.

Signs and Symptoms

People with amyloidosis might not notice any symptoms until the disease has progressed. The symptoms you experience depend on which organs are affected by the condition.

Common symptoms of amyloidosis include:

• Extreme tiredness and weakness
• Difficulty breathing
• Pins and needles or pain in hands and feet
• Swollen ankles and legs
• Bowel problems (diarrhea, sometimes with blood, or constipation)
• Larger tongues that may have wavy edges
• Skin issues like thickening, bruising easily, and purple patches around eyes

When You Should See a Healthcare Provider

If you notice any symptoms associated with amyloidosis happening regularly, make an appointment with your healthcare provider.

Causes

Amyloidosis occurs in several forms, with some types being inherited and others resulting from external factors. The specific cause depends on the type.

AL amyloidosis, the most common form in developed countries, affects many organs including the heart, kidneys, liver, and nerves. It’s sometimes called primary amyloidosis.

AA amyloidosis typically develops as a result of chronic inflammatory conditions like rheumatoid arthritis. This secondary form of amyloidosis often impacts the kidneys, liver, and spleen.

Hereditary amyloidosis passes through family lines and frequently affects the nerves, heart, and kidneys. The most common cause is an abnormal transthyretin (TTR) protein produced by the liver.

Wild-type amyloidosis occurs when normal TTR proteins create amyloid deposits for unknown reasons. This type mainly affects men over 70 years old and typically targets the heart. It may also cause carpal tunnel syndrome.

Localized amyloidosis affects specific areas rather than multiple organs. Common sites include:

• Bladder
• Skin
• Throat
• Lungs

This type generally has a better outlook than forms affecting multiple organ systems. Accurate diagnosis is essential to avoid unnecessary whole-body treatments.

Long-term dialysis and certain inflammatory diseases can also trigger some forms of amyloidosis.

Risk Factors

Several factors may increase your chance of developing amyloidosis:

• Age: People between 60 and 70 years old are most commonly diagnosed.
• Gender: Men face a higher risk than women.
• Existing Health Conditions: Chronic infections or inflammatory diseases raise the risk of AA amyloidosis.
• Genetics: Some amyloidosis types run in families
• Dialysis Treatment: Kidney dialysis patients may develop amyloidosis when proteins aren’t fully filtered from the blood, though newer dialysis methods have reduced this risk.
• Ethnic Background: People of African descent have higher rates of genetic mutations linked to heart-affecting amyloidosis.

Complications

Amyloidosis can cause serious damage to several vital organs in the body. When this condition progresses, it leads to various health complications that can significantly impact quality of life.

Heart Complications

The heart is particularly vulnerable to amyloidosis damage. When amyloid proteins build up in heart tissue, they:

• Reduce the heart’s filling capacity between beats
• Decrease blood pumping efficiency
• Cause breathing difficulties
• Disrupt the heart’s electrical system

These issues can lead to dangerous heart rhythm problems that may become life-threatening without proper treatment.

Kidney Damage

The kidneys’ filtering system often suffers when amyloid deposits accumulate. This damage:

• Impairs the removal of waste products from the bloodstream
• Reduces overall kidney function
• Can eventually progress to complete kidney failure

Nervous System Effects

Amyloidosis frequently affects both the peripheral and autonomic nervous systems, causing:

1. Painful sensations in extremities
2. Numbness or tingling in fingers and toes
3. Disrupted bowel function (alternating constipation and diarrhea)
4. Blood pressure regulation problems

When amyloid damages nerves that control blood pressure, patients may experience dizziness or fainting when standing up quickly—a condition called orthostatic hypotension.

The severity of these complications varies between individuals and depends on which type of amyloidosis a person has.

Medical management typically focuses on both treating the underlying cause of amyloid production and addressing specific organ complications. Patients with amyloidosis need coordinated care from specialists who understand this complex condition and its wide-ranging effects on the body.

Regular check-ups that include heart function tests, kidney assessments, and neurological evaluations help track the progression of the disease and guide treatment decisions.