Amyloidosis Symptoms, Diagnosis, and Treatment in 2026

What Is Amyloidosis?

Amyloidosis refers to a group of diseases characterized by the buildup of abnormal amyloid proteins in various organs and tissues. These protein deposits disrupt the normal function of affected organs. In the United States, amyloidosis most often involves the heart, kidneys, nervous system, liver, and gastrointestinal tract. Because of its nonspecific symptoms and diverse clinical presentations, amyloidosis can be challenging to diagnose.

This condition is classified based on the type of amyloid protein involved. The most common types in the U.S. include Light Chain (AL) amyloidosis, transthyretin-related amyloidosis (both hereditary and wild-type), and secondary (AA) amyloidosis. Each type has distinct pathophysiology and implications for treatment.

Common Symptoms of Amyloidosis

Symptoms vary widely depending on the amyloidosis type and which organs are affected. Common signs of amyloid deposition in the United States include:

• Fatigue and weakness
• Unexplained weight loss
• Swelling in the legs and ankles (edema)
• Shortness of breath, especially if the heart is involved
• Numbness or tingling sensations due to nerve involvement
• Enlarged tongue or difficulty swallowing
• Changes in skin texture or color
• Proteinuria (protein in the urine) or kidney dysfunction

Because symptoms often overlap with other conditions, persistent or unexplained symptoms should prompt further medical evaluation, especially for individuals at higher risk.

Types of Amyloidosis Relevant in the United States

Light Chain (AL) Amyloidosis

AL amyloidosis is caused by abnormal plasma cells in the bone marrow producing misfolded light chains, which deposit as amyloid fibrils. It is the most frequent form seen in the U.S. and often resembles conditions like multiple myeloma. It frequently affects the heart and kidneys.

Transthyretin Amyloidosis (ATTR)

This type occurs due to misfolding of transthyretin (TTR) proteins produced by the liver.

• Hereditary ATTR (hATTR) results from genetic mutations passed through families.
• Wild-type ATTR (wtATTR) generally affects older adults without genetic mutations.

Both forms most commonly affect the heart and peripheral nerves.

Secondary (AA) Amyloidosis

This form is linked to chronic inflammatory diseases, such as rheumatoid arthritis or chronic infections. It results from serum amyloid A protein deposits mainly affecting the kidneys.

Dialysis-Related Amyloidosis

Patients receiving long-term dialysis can develop amyloid deposits primarily composed of beta-2 microglobulin, affecting joints and bones.

Diagnostic Approaches

Diagnosing amyloidosis involves multiple steps, combining clinical assessment with laboratory and imaging studies.

Medical History and Physical Examination

Detailed history including symptoms, family history, and presence of underlying conditions helps define the risk. Physical signs may guide toward organ involvement.

Laboratory Tests

• Blood tests to evaluate kidney and liver function, cardiac biomarkers, and protein abnormalities.
• Urine tests for proteinuria.
• Specific biomarkers such as free light chains for AL amyloidosis.

Imaging Studies

• Echocardiography to assess heart involvement.
• MRI and nuclear imaging techniques can help detect amyloid deposits in organs.

Tissue Biopsy

Definitive diagnosis requires biopsy demonstrating amyloid deposits, typically with Congo red staining under polarized light showing apple-green birefringence.

Biopsy sites include affected organs, abdominal fat pad, bone marrow, or minor salivary glands.

Genetic Testing

In suspected hereditary ATTR, genetic testing is used to identify mutations in the TTR gene.

Early and accurate diagnosis is crucial to prevent irreversible organ damage.

Current Treatment Options in 2026

Treatment depends on the amyloidosis type, organs involved, and overall patient health.

AL Amyloidosis

Treatment targets the abnormal plasma cells producing light chains. Therapies often involve:

• Chemotherapy regimens similar to those for multiple myeloma.
• Autologous stem cell transplantation may be considered for eligible patients.

ATTR Amyloidosis

Treatment strategies differ for hereditary and wild-type forms:

• TTR stabilizers help prevent amyloid formation by stabilizing the transthyretin protein.
• Gene-silencing therapies using small interfering RNA (siRNA) or antisense oligonucleotides reduce pathogenic TTR production.

AA Amyloidosis

Managing the underlying inflammatory condition is the primary approach to reduce amyloid production.

Supportive Care

Symptom management includes treatments for heart failure, kidney impairment, neuropathy, and other affected organ systems.

Ongoing Research and Clinical Trials

New therapies under investigation include novel agents targeting amyloid fibrils and improved gene editing techniques. Participation in clinical trials provides access to emerging treatments.

Prognosis and Monitoring

Amyloidosis prognosis varies with type and extent of organ involvement. Early detection and tailored therapy can improve survival and quality of life. Regular monitoring is essential to assess treatment response and progression.

Typical Costs in United States (2026)

When considering amyloidosis diagnosis and treatment in the U.S., typical price ranges include:

• Basic diagnostic evaluation: Approximately $1,500-$5,000 - includes laboratory tests, imaging studies, and biopsy procedures.
• Standard treatment regimens: Approximately $50,000-$200,000 depending on therapy type, duration, and hospitalization needs.
• Advanced therapy and transplantation options: Can exceed $300,000 due to complex chemotherapy, stem cell transplantation, or gene-silencing therapy costs.

Costs vary widely based on insurance coverage, treatment center, and individual patient needs.

This overview is intended to provide factual, up-to-date information about amyloidosis relevant to a U.S. audience in 2026. Readers seeking specific medical advice should consult healthcare professionals.