AmyloidosisTypes Symptoms Causes and Treatment Options

Are you experiencing unexplained fatigue, leg swelling, or heart and kidney issues without a clear cause?These could be signs of a rare condition called amyloidosis — a silent disease that gradually affects vital organs.At Daleeli Medical, we uncover everything you need to know about this complex disorder: its types, causes, symptoms, and the latest diagnostic and treatment options — all explained in clear, simple language backed by the most trusted medical sources.

❓ What Is Amyloidosis?

Amyloidosis is a rare disease caused by the abnormal buildup of a protein called amyloid in tissues and organs, leading to gradual dysfunction.
One of the most well-known types is AA amyloidosis, which often occurs in patients with Familial Mediterranean Fever (FMF) who do not take colchicine regularly. In these cases, the body produces excessive amounts of the inflammatory protein AA, which accumulates in the kidneys, liver, heart, and digestive system.

???? Is amyloidosis contagious?

No. Amyloidosis is not contagious and cannot be transmitted from one person to another in any way.

????️ Is amyloidosis a type of cancer?

No, it is not a cancer itself. However, some types — like AL amyloidosis — may be associated with plasma cell disorders such as multiple myeloma.

???? Is amyloidosis common?

No, it is very rare and often diagnosed late because its symptoms mimic those of many other conditions.

Can amyloidosis be cured?

There is no complete cure, but with early and accurate diagnosis, symptoms can be managed and disease progression can be slowed — especially in types like AA or ATTR.

⚠️ What is the most dangerous type of amyloidosis?

AL amyloidosis is considered the most severe, especially if it affects the heart or kidneys. It requires urgent and specialized treatment.

Are all types of amyloidosis genetic?

No. Only hereditary ATTR is genetic. Other types, such as AL and AA, are not inherited.

Main Types of Amyloidosis:

Type	Cause	Most Affected Organs
AL	Plasma cell disorder (light chains)	Heart, kidneys, tongue
AA	Chronic inflammation (e.g. FMF)	Kidneys, liver
ATTR	Genetic mutation or aging	Nerves, heart

How Is Amyloidosis Diagnosed?

Diagnosis involves several key steps:

Tissue biopsy: A sample is taken from an affected area (such as the kidney, rectum, or abdominal fat) and stained with Congo red to detect amyloid deposits.
Blood and urine tests: To determine the specific type of amyloid protein (AL, AA, ATTR).
Organ function evaluation: Includes heart tests (ECG, echocardiogram), kidney and liver function tests, nerve conduction studies, and MRI or ultrasound imaging.

❗ When Should You Suspect Amyloidosis?

Unusual symptoms that may raise suspicion include:

✅ Heavy protein in the urine (proteinuria) without clear cause
✅ Enlarged tongue (classic sign of AL type)
✅ Progressive unexplained kidney, heart, or nerve dysfunction
✅ Numbness or tingling in hands and feet
✅ Unexplained weight loss or chronic fatigue

What Are the Treatment Options for Amyloidosis?

Treatment varies based on the type:

Type	Main Treatment
AL	Plasma cell-targeting drugs (e.g., bortezomib, melphalan) ± autologous stem cell transplant
AA	Control of underlying inflammation (e.g., colchicine for FMF, biologics for chronic disease)
ATTR (genetic)	Modern drugs like patisiran or inotersen to block abnormal protein production
ATTR (age-related)	Supportive heart care + symptom management ± stabilizers of amyloid deposits

In advanced cases, the following may be considered:

Liver transplant (for hereditary ATTR)
Heart or kidney transplant (if severely damaged)

Note: Early diagnosis significantly improves treatment outcomes. Don’t hesitate to seek medical help if you have any concerning symptoms.

Can I Live Long With Amyloidosis?

Yes. Many patients live for years with amyloidosis, especially with early diagnosis and proper ongoing treatment.
However, in advanced stages — particularly when the heart or kidneys are affected — life expectancy may be reduced.

???? Is There a Special Diet for Amyloidosis?

Yes — the diet depends on the organs involved. Examples:

Low-sodium diet: For heart involvement to reduce fluid retention.
Low-protein diet: For kidney protection.
Vitamin and mineral adjustments: Based on individual needs and lab results.

Consulting a clinical dietitian is essential to customize the meal plan safely and effectively.

✈️ Can Patients with Amyloidosis Travel or Work?

Yes, in most cases. Patients can lead a normal life — including traveling and working — if their condition is stable and vital organs are not severely affected.

However, it is important to:

Have regular medical follow-up
Adhere to medications
Consider travel logistics, including access to medical care

Which Medical Specialties Treat Amyloidosis?

Treatment usually involves a multidisciplinary team, depending on the type of amyloidosis and the organs involved. Specialists may include:

Hematology & Immunology
Cardiology ❤️
Neurology
Nephrology (Kidney specialists)
Gastroenterology & Hepatology
Genetic Medicine (for hereditary ATTR cases)

⚠️ Who Is at Higher Risk of Developing Amyloidosis?

Some groups have a higher risk:

Men are more commonly affected than women
Age over 50 years
Patients with chronic inflammatory diseases (e.g., FMF, rheumatoid arthritis)
Those on long-term dialysis
People with a family history of hereditary amyloidosis

⌛ At What Age Does Amyloidosis Usually Appear?

Most cases are diagnosed between 50 and 65 years of age
Hereditary ATTR may present earlier — usually between 40 and 65 years
The age of onset depends on genetics and the presence of chronic diseases

Which Organs Are Most Affected by Amyloidosis?

Amyloid protein deposits can damage multiple organs, and symptoms vary based on the type of amyloidosis and the organs involved. The most commonly affected organs include:

1. ❤️ The Heart (Cardiac Involvement)

One of the most commonly affected organs, especially in AL and ATTR types.

Key manifestations:

Restrictive cardiomyopathy (stiff heart muscle)
Congestive heart failure
Heart rhythm problems (e.g., atrial fibrillation, bradycardia)

2 The Kidneys (Renal Involvement)

Often affected in AL and AA types.

Main symptoms:

Nephrotic syndrome (heavy protein loss in urine)
Fluid retention and swelling
High blood pressure
Chronic kidney failure over time

3. The Nervous System (Neurologic Involvement)

Involves both peripheral and autonomic nerves, especially in hereditary ATTR.

Common signs:

Numbness or weakness in the limbs
Chronic nerve pain
Drop in blood pressure when standing (orthostatic hypotension)
Digestive and sweating issues

4. Digestive System & Liver (GI Tract and Liver)

Can involve the esophagus, stomach, intestines, and liver.

Symptoms include:

Nausea, diarrhea or constipation
Gastrointestinal bleeding
Liver enlargement (hepatomegaly)
Abnormal liver function

5. Tongue and Mouth (Oral Involvement)

A classic feature in AL amyloidosis.

Clinical signs:

Macroglossia (enlarged tongue)
Speech or swallowing difficulties
Teeth indentations on the sides of the tongue

6. Skin and Blood Vessels

Amyloid deposits can cause fragile blood vessels, leading to noticeable skin changes.

Signs:

Periorbital bruising (also called “Raccoon eyes”)
Petechiae (small red or purple spots on the skin)
Easy bruising or bleeding without clear cause

7. ???? Spleen and Immune System

In some cases, the immune system and spleen are affected.

Possible effects:

Splenomegaly (enlarged spleen)
Blood cell abnormalities such as:
- Anemia
- Low platelets (thrombocytopenia)

8. Lungs (Pulmonary Involvement)

Although less common, lung involvement can occur.

Symptoms may include:

Shortness of breath even with minimal exertion
Pleural effusion (fluid buildup around the lungs)
Reduced lung function

Types of Amyloidosis and Their Causes

Amyloidosis is classified into several main types, depending on the underlying cause, the type of amyloid protein, and the organs involved. Here's an overview:

1. AL Amyloidosis (Primary Amyloidosis)

The most common type in Western countries.

Cause:
A disorder in plasma cells leads to overproduction of light chains of antibodies that deposit in tissues.

Associated with:

Multiple Myeloma
Plasma cell dyscrasias

Organs affected:
Heart, kidneys, nerves, tongue, gastrointestinal tract

2. AA Amyloidosis (Secondary Amyloidosis)

Cause:
Chronic inflammation leads to high levels of Serum Amyloid A (SAA) protein.

Associated with:

Rheumatoid arthritis
Crohn’s disease / Ulcerative colitis
Familial Mediterranean Fever (FMF)
Tuberculosis or other chronic infections

Organs affected:
Kidneys, liver, spleen, GI tract

3. Hereditary Amyloidosis (ATTRm)

Cause:
A genetic mutation in the transthyretin (TTR) gene.

Inheritance:
Autosomal dominant (inherited from one parent)

Organs affected:
Nerves, heart, gastrointestinal tract

Onset:
Usually between ages 30–60

4. Age-related (Senile) Systemic Amyloidosis (ATTRwt)

Cause:
Gradual accumulation of normal (wild-type) transthyretin protein with aging.

Organs affected:
Primarily the heart (causes amyloid cardiomyopathy)

Common in:
Men over 70 years
Often diagnosed only after cardiac symptoms appear

5. Dialysis-Related Amyloidosis (Aβ2M)

Cause:
Build-up of β2-microglobulin due to incomplete clearance during dialysis.

Organs affected:
Joints, tendons, bones

Seen in:
Patients on long-term dialysis (usually >5 years)

6. Rare Types of Amyloidosis

ApoA1 Amyloidosis
- Due to mutation in Apolipoprotein A1
- Affects: Kidneys, liver
Gelsolin Amyloidosis
- Rare inherited type
- Affects: Nerves, eyes
Lysozyme Amyloidosis
- Genetic
- Affects: Liver, kidneys, GI tract

⚠️ Important Notes

Amyloidosis is sometimes discovered incidentally during testing for another condition, even without symptoms.
Overlap can occur, e.g., AL in myeloma patients or ATTR in elderly individuals.
Precise diagnosis of the amyloid type is critical for proper treatment and prognosis.

Risk Factors for Amyloidosis

Wondering if you're at risk? These are the most recognized risk factors, depending on the type:

1. Aging

Risk increases after age 60
Common in:
- ATTRwt (age-related)
- AL amyloidosis

2. Genetics (Hereditary Predisposition)

Family history of hereditary amyloidosis
Mutations in genes such as:
- TTR (transthyretin)
- ApoA1
- Gelsolin

Symptoms may appear earlier in hereditary types (ATTRm)

3. Chronic Inflammatory or Infectious Diseases

Major risk factor for AA Amyloidosis, especially:

Rheumatoid arthritis (RA)
Crohn’s disease / Ulcerative colitis
Familial Mediterranean Fever (FMF)
Tuberculosis or chronic bone infections

4. Plasma Cell Disorders

Key contributors to AL amyloidosis:

Multiple Myeloma
Plasma cell neoplasms
MGUS (Monoclonal Gammopathy of Undetermined Significance)

These conditions produce light chains, which deposit and cause AL amyloidosis.

5. Chronic Dialysis

Risk increases after >5 years of dialysis
Leads to:
- Dialysis-related amyloidosis (Aβ2M)
- Deposits in joints and bones

6. Sex

Men are more likely to develop:
- ATTRwt (age-related)
- AL amyloidosis

Risk Factors for Amyloidosis

7. Ethnicity
The V122I mutation in the TTR gene is common among people of African descent → increases the risk of hereditary ATTR amyloidosis.

8. Immune predisposition
Having autoimmune diseases or a weakened immune system may raise the risk of amyloid protein buildup.

9. Lifestyle (indirect factor)
Examples include:

Poor control of chronic diseases (e.g., diabetes, recurrent UTIs)
Delayed or inappropriate treatment

Environmental factors do not directly cause the disease, but may speed up its progression, especially in genetic types.

Symptoms Based on Affected Organs

1. Heart Involvement (Amyloid Cardiomyopathy)

Shortness of breath (especially during exertion)
Swelling in the legs or ankles (edema)
Irregular heartbeat (palpitations, atrial fibrillation)
Extreme fatigue
Dizziness or fainting
Chest pain (rare)
Most common in: AL and ATTR types

2. Nervous System Symptoms

a) Peripheral nerves:

Numbness or tingling in hands and feet
Burning or electric shock-like pain
Progressive muscle weakness

b) Autonomic nervous system:

Dizziness upon standing (orthostatic hypotension)
Sweating problems
Digestive issues (chronic diarrhea or constipation)
Erectile dysfunction
Difficulty urinating

Most common in: hereditary ATTR (ATTRm)

3. Kidney Involvement

Leg or ankle swelling
Severe proteinuria
High blood pressure
Progressive kidney failure
Most common in: AL and AA types

4. Digestive System & Liver Symptoms

Loss of appetite and weight
Nausea or vomiting
Abdominal bloating
Chronic diarrhea or constipation
Enlarged liver (hepatomegaly)
Elevated liver enzymes
More prominent in AL and ATTR types

5. Mouth and Tongue Involvement

Classic in AL amyloidosis:

Enlarged tongue (macroglossia)
Teeth indentations on the tongue sides
Trouble speaking or swallowing

6. Skin and Eye Manifestations

Bruising around the eyes (“raccoon eyes”)
Tiny red/purple spots on the skin (petechiae)
Dry eyes or puffy eyelids
Pale or grayish skin discoloration
Typically seen in AL amyloidosis

7. Joint and Bone Symptoms

Joint pain or stiffness
Carpal Tunnel Syndrome:
→ Numbness, pain, and weakness in hands
Common in ATTR

8. Lung Involvement (Rare)

Shortness of breath with activity
Chronic cough
Pleural effusion (fluid around the lungs)
Usually occurs in late-stage or AL type

General Symptoms (Across All Types)

Fatigue and chronic tiredness
Unexplained weight loss or loss of appetite
Fever of unknown origin
Dark or decreased urine output
Signs of multi-organ failure in advanced stages

How Is Amyloidosis Diagnosed?

✅ 1. Clinical Suspicion

Diagnosis starts with recognizing red flags like:

Multiple symptoms across different organs
Unexplained kidney, heart, liver, or nerve issues
Enlarged tongue or unusual skin signs
Nephrotic syndrome without clear cause

2. Confirming Amyloid Deposits

a) Tissue Biopsy
Gold standard test using Congo Red staining.
Under polarized light: → shows “apple-green birefringence” → confirms amyloid.

Common biopsy sites:

Site	Benefit
Abdominal fat pad	Simple, first-line for AL diagnosis
Bone marrow	Useful if blood cancer is suspected
Kidney or liver	If organ-specific symptoms are present
Heart muscle biopsy	Only in suspected cardiac involvement