ACE @ Wash U

Amyloidosis is a group of diseases caused by abnormal proteins that can affect multiple organ systems throughout the body. These diseases require an integrated approach to diagnosis and treatment across multiple medical specialties.

Our Amyloid Center of Excellence (ACE) team includes experts in medical specialties including Cardiology, Hematology/Oncology, Neurology, Nephrology, Gastroenterology, Hepatology, Pulmonology and Pathology to ensure that each patient receives the treatment that they need.

You can contact the Amyloid Center of Excellence at Washington University/Barnes-Jewish Hospital (ACE@WashU) by calling 833-4AMYLOID (833-426-9564) for the hematology/oncology team or 314-362-1291 for the cardiology team. Either team can further direct the referral to other specialties.

Patients are welcome to call the above numbers directly to self-refer or make an appointment.

Referring physicians are welcome to contact us to speak directly to one of our physicians or to make a patient referral to the ACE @ Wash U.

About Amyloidosis

Amyloidosis is caused when abnormal proteins deposit in various organs including the heart, kidneys, lungs, liver, digestive tract, nerves and muscles.

There are over 30 different types of amyloid proteins, and it is essential to confirm the diagnosis of amyloid and the specific subtype to determine the optimal treatment approach.

Most amyloidosis is caused by one of two types:

AL (Light Chain) Amyloidosis is caused by a disorder of bone marrow cells (plasma cells) that is associated with multiple myeloma. AL amyloidosis is primarily treated by our hematology/oncology team while other specialists help with the care of any involved organs.

Transthryretin Amyloidosis (ATTR) is related to an overproduction of the TTR (Transports Thyroxine and Retinol) protein produced by the liver. ATTR can be a hereditary condition, and family members often need to be screened to ensure they do not share the responsible gene.  ATTR is primarily treated by our cardiology or neurology specialists (or both) depending on whether it is predominantly causing heart or nerve issues.

Symptoms of Amyloidosis

Patients with amyloidosis can have a variety of symptoms which are based on the organ systems that have developed amyloid deposits.  Symptoms are generally nonspecific and can include:

  • Constipation or Diarrhea
  • Weight Loss or Weight Gain
  • Leg or Arm pain
  • Peripheral Neuropathy
  • Lower extremity weakness
  • Carpal Tunnel Syndrome – pain in the wrists
  • Shortness of breath with activity
  • Leg or Arm lower swelling
  • Lightheadedness, dizziness or fainting
  • Generalized swelling in the abdomen, arms, legs
  • Enlarged tongue
  • Weakened voice
  • Foamy urine
  • Persistent nausea and vomiting
Making the Diagnosis

The diagnosis of amyloidosis is made by a combination of tests depending on a patient’s symptoms.  Testing can include blood and urine tests as well as special imaging techniques.

Laboratory Testing may include:

  • Complete blood count
  • Blood measurements of kidney and liver function along with evaluation of blood proteins
  • Blood clotting tests
  • Blood cardiac biomarkers
  • 24-hour urine collection to measure protein
  • Genetic blood testing for genetic mutations (TTR amyloid)

Diagnostic Testing may include:

  • Cardiac echocardiogram
  • Cardiac MRI
  • Body MRI
  • Plain X-rays of the bones (skeletal survey)
  • PET scans
  • Technetium pyrophosphate scan (PYP scan)
  • Measurement of nerve and muscle function (EMG)

The diagnosis of amyloidosis requires confirming amyloid deposition in tissues/organs with either a PYP scan or a biopsy. A PYP scan is similar to a CT scan but also uses a special molecule or tracer that makes amyloid light up in the heart.  It cannot tell the difference between TTR and AL amyloid so it can only be used when the bloodwork is normal and there is no concern for AL amyloid.

Many patients will need a biopsy to confirm the diagnosis. The specific biopsies that may be performed will vary among patients depending on the organs that appear to be involved and the subtype of amyloid.  Amyloid is detected by performing a special stain on the tissue biopsy called a Congo red stain.  Special testing of liver and heart biopsies can include immune florescence staining and electron micrography.  The tissue sample is then sent to a specialized lab to perform mass spectrometry to determine the amyloid subtype.

Biopsy sites may include:

  • Bone marrow
  • Heart
  • Kidney
  • Liver
  • Nerve
  • Muscle
  • Gastrointestinal tract
  • Skin
Your Visit to ACE @ Wash U

What To Expect On Your Initial Visit

The complete workup needed for amyloidosis can require comprehensive testing and involve physicians in different specialties in order to make the diagnosis, determine the amyloid type, and assess which organs are involved and to what degree. 

Your initial visit to the Amyloid Center of Excellence at Washington University will involve a visit with one or more physicians.  Multiple appointments over a few days may be required to complete the testing and to be evaluated by any needed physician groups.

For our patients traveling from far distances our team can help coordinate local accommodations for your stay in our area.