UNIVERSITY OF MINNESOTA | Amyloidosis Program

FOR PATIENTS

What Is Amyloidosis?

Amyloidosis is a condition in which abnormal proteins - called amyloid - build up in tissues and organs. Normally, proteins fold into a specific shape so they can function properly. In amyloidosis, certain proteins fold incorrectly and stick together, forming fibers (called fibrils) that the body cannot easily break down.

Over time, these protein deposits can make organs stiff and interfere with how they function. Amyloidosis can affect the heart, kidneys, nerves, liver, and digestive system.

There are several types of amyloidosis. The type of protein involved determines:

Which organs are affected
How the disease behaves
Which treatments are needed

Because symptoms vary depending on the organs involved, amyloidosis is often complex and requires evaluation by multiple specialists.

Types of Amyloidosis

There are many forms of amyloid, but the majority of amyloidosis cases are caused by one of these two:

AL (Light Chain Amyloidosis)

Caused by abnormal plasma cells in the bone marrow
Produces harmful light chain proteins
Often affects the heart, kidneys, nerves, and liver

AL Amyloidosis Development & Treatment

AL Pathophysiology

A medical diagram illustrating the pathophysiology of AL amyloidosis. The process begins in the bone marrow where clonal plasma cells secrete misfolded light chains into circulation. These light chains oligomerize and aggregate into cross-beta amyloid fibrils, which deposit into cardiac muscle tissue. The diagram shows how these deposits lead to cell dysfunction, impaired calcium homeostasis, decreased contractility, and eventual apoptosis (cell death) in the heart. Targeted therapy points are highlighted, including therapies targeting plasma cells and antibodies against fibril epitopes to accelerate removal of deposits.

AL Treatment Pillars

An infographic titled 'Pillars for Improved Outcomes in AL Amyloidosis,' featuring three white classical columns representing the core treatment strategies. The first pillar, 'Early Recognition,' shows icons for tissue diagnosis and a clock emphasizing timely diagnosis. The second pillar, 'Anti-plasma Cell Therapy,' illustrates plasma cells and various medical treatments like injections and medication, noting to change therapy early if the response is inadequate. The third pillar, 'Supportive Care,' displays icons for fluid retention management, neuropathy management, nutritional support, and antimicrobial prophylaxis.

ATTR (Transthyretin Amyloidosis)

Caused by instability of a protein called transthyretin (TTR)
May be inherited or non-inherited
Often affects the heart and nerves
The hereditary form affects the kidney in roughly a third of the cases

The type of amyloidosis determines which treatments are recommended.

How Amyloidosis Can Affect the Body

Amyloidosis is considered a systemic disease, meaning it can affect multiple organs and disrupt their architesture and functioning.

Common organ involvement includes:

Heart – shortness of breath, swelling, heart rhythm changes
Kidneys – protein in urine, swelling, reduced kidney function
Nerves – numbness, tingling, weakness, dizziness
Digestive system & liver – weight loss, poor appetite, abdominal symptoms

Not every patient experiences the same symptoms. Care is individualized based on which organs are involved.

How Is Amyloidosis Diagnosed?

Diagnosis typically includes:

Blood and urine testing
Imaging studies (such as echocardiogram, MRI, or nuclear scans)
Tissue biopsy in some cases including the bone marrow
Genetic testing for certain forms
Nerve conduction studies
Eectromyopgahy (EMG)
Autonomic reflex screen

Because amyloidosis can mimic other conditions, specialized evaluation is important for accurate diagnosis.

Learn More About Organ-Specific Care

Amyloidosis & the Heart

Amyloidosis & the Kidneys

Amyloidosis & the Brain

Amyloidosis & the Blood

Research and Professional Inquiries: amyloid-umn@umn.edu

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