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Penn Medicine's Amyloidosis and Paraproteinemia Clinic provides expert diagnosis and treatment for patients with amyloidosis and paraprotein disorders. Using a multidisciplinary approach, our physicians have extensive experience treating these rare diseases, and are committed to providing outstanding, individualized patient care.

What is Paraproteinemia?

Paraproteinemia, also known as monoclonal gammopathy, is characterized by the presence of excessive amounts of paraproteins in the blood. Paraproteins are immunoglobulin proteins that are produced by a clone of plasma cells in the bone marrow. These proteins often cause damage to the kidneys. AL amyloidosis is one common type of paraprotein disorder.

Other types of paraprotein disorders include:

  • Multiple myeloma
  • Light-chain deposition disease
  • Intact immunoglobulin deposition disease

What is Amyloidosis?

Amyloidosis is a condition in which proteins fold abnormally and deposit as fibrils in organs and body tissues. The protein deposits cause damage to these tissues, and over time, result in organ dysfunction.

The main types of amyloidosis are:

  • Amyloid light-chain (AL) amyloidosis (also known as primary amyloidosis) — AL amyloidosis occurs when plasma cells in the bone marrow excessively produce a part of an antibody called a "light-chain". These amyloid light chains are proteins that can accumulate and deposit into many different organs and body tissues, including the kidneys, heart, liver, gastrointestinal tract, nerves and skin.
  • AA amyloidosis (also known as secondary amyloidosis) — The protein found in this form of amyloidosis is called "serum amyloid A". These proteins are abnormally produced in response to chronic inflammatory diseases. The kidneys are most commonly affected, and other organs may be affected as well.
  • Hereditary amyloidosis (also known as familial amyloidosis) — Hereditary amyloidosis is an inherited mutation that causes proteins to form into amyloid fibrils. The most common type of hereditary amyloidosis is caused from a mutated form of the transthyretin (TTR) protein.
  • Senile systemic amyloidosis (SSA) — SSA amyloidosis is an age-related amyloidosis that typically affects the heart. In this disease, amyloid protein deposits accumulate very slowly over time, occurring in elderly patients.

Amyloidosis Symptoms

Symptoms of amyloidosis may include:

  • Swelling of the legs
  • Foamy urine
  • Shortness of breath
  • Tingling or numbness of hands and feet
  • Lightheadedness or dizziness
  • Weight loss
  • Bruising
  • Fatigue and decreased exercise capacity

Amyloidosis Diagnosis

In order to accurately diagnose amyloidosis, the following diagnostic tests and procedures may be performed:

  • A tissue biopsy
  • A comprehensive physical examination
  • Blood and urine tests
  • An echocardiogram, electrocardiogram and other tests may be performed to determine which organs are affected.

Common Treatments for Amyloidosis

The treatment of amyloidosis varies depending upon the type and how the disease manifests in particular organs. Treatment options for common types of amyloidosis include:

  • Chemotherapy that targets plasma cells, including high-dose chemotherapy with autologous stem cell transplantation (AL amyloidosis)
  • Medications to reduce inflammation (AA amyloidosis)
  • Addressing organ failure through organ transplantation
  • Novel treatments available through the latest clinical trials

A Multidisciplinary Approach to Care

Penn physicians have considerable expertise treating amyloidosis and paraprotein disorders. Our familiarity with these rare diseases give patients peace of mind knowing that they are in good hands. Specialists collaborate across multiple disciplines to evaluate and treat patients by creating individualized treatment plans. The program includes collaboration with:

In This Section

Treatment Team

Meet the members of Penn's Amyloidosis and Paraproteinemia Clinic.

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