The Saint Luke’s Amyloid Program, comprised of a multidisciplinary team of physicians, is dedicated to diagnosing and treating patients with all forms of amyloidosis.

This comprehensive team includes cardiology, hematology, nephrology, and neurology physicians. Members of the team have extensively published research and been involved in clinical trials, and are committed to treatment of amyloidosis in their patients.

Condition

Amyloidosis is a disorder that occurs when a protein in the body misfolds and deposits into organs, leading to their dysfunction. Amyloidosis can affect several organ systems including the heart, kidneys, skin, soft tissue structures, and gastrointestinal tract.

Mechanism of Amyloid Deposition Illustration

An illustration of amyloidosis
Sperry, B.W. et al. J Am Coll Cardiol. 2018;72(17):2040-50

Cardiac amyloidosis is a disease in which the heart thickens and stiffens, which leads to heart failure and sometimes restrictive cardiomyopathy. Signs of heart failure could include shortness of breath, swelling, excess fluid in the lungs, cough, fatigue, and loss of appetite.

Causes

There are predominantly two types of amyloidosis that affect the heart, though other rarer types exist. One type comes from abnormalities with the transthyretin protein, which is made in the liver. The other comes from immunoglobulin light chains, which are made in the bone marrow.

Transthyretin amyloidosis (ATTR) predominantly leads to heart failure and/or neuropathy. This is an increasingly recognized cause of heart failure with preserved ejection fraction or diastolic heart failure. Older men are most commonly affected, but ATTR can affect patients of any age, race, or gender. Some patients may have a form of ATTR that leads to severe neuropathy with symptoms of numbness, tingling, or pain in the hands and/or feet and weakness. This condition may be genetic, in which case it is commonly called familial amyloid cardiomyopathy (FAC) or familial amyloid polyneuropathy (FAP). Non genetic disease is called wild-type or senile ATTR.

Immunoglobulin light chain amyloidosis (AL) can lead to multi-organ involvement including the heart, kidneys, skin, soft tissue structures, and gastrointestinal tract. Light chains are fragments of immunoglobulins (antibodies) that are made in the bone marrow, and normally work to fight infection as part of the immune system. AL amyloidosis can affect patients at any age, and about 20 percent of patients with AL will also have multiple myeloma.

Symptoms

Specific signs and symptoms depend upon which organs are involved. Patients may not experience signs or symptoms of amyloidosis until the condition is advanced.

Signs and symptoms of amyloidosis may include:

  • Shortness of breath
  • Swelling in the legs and ankles
  • Difficulty lying flat
  • Carpal tunnel syndrome in one or both wrists
  • Spinal stenosis or biceps tendon rupture
  • Abnormal kidney function
  • Frothy urine
  • Numbness or tingling in the hands or feet
  • Fatigue
  • Unintentional weight loss
  • Tongue enlargement
  • Abdominal pain and diarrhea
  • Purple discoloration around the eyes

Diagnosis

Saint Luke’s Hospital offers a variety of diagnostic tests that can lead to a amyloidosis diagnosis.

Among these tests:

  • Specialized blood and urine tests
  • Markers of heart, kidney, and liver dysfunction
  • Advanced echocardiography with longitudinal strain analysis
  • Cardiac magnetic resonance imaging (MRI)
  • Technetium pyrophosphate nuclear scintigraphy
  • Biopsy of the bone marrow, heart, kidneys, or soft tissue in of the abdomen

Treatment

Treatment options depend on your amyloidosis diagnosis:

AL amyloidosis

  • Anti-plasma cell therapy (a type of chemotherapy)
  • Bone marrow transplantation
  • Clinical trials

ATTR amyloidosis

  • Patisiran (Onpattro)
  • Inotersen (Tegsedi)
  • Tafamidis
  • Clinical trials

Resources

Contact Us

Request an appointment by emailing amyloid@saintlukeskc.org

Providers

Furha Iram Cossor, MD

Oncology / Hematology

Brett W Sperry, MD

Advanced Heart Failure/Transplant Cardiology, Cardiology

News

Oct. 9, 2020

Bottomline Health: Carpal tunnel syndrome: A harbinger of heart failure?

Dr. Brett Sperry explains how carpal tunnel syndrome is linked to a rare form of heart disease called amyloidosis in an issue of Bottomline Health.
KCTV5 News - Aging in Style: Staying heart healthy - Sponsored by Aetna Medicare Solutions - Your Health
Feb. 26, 2020

KCTV: Local Photographer Receives Transplant After Diagnosis of Rare Hereditary Heart Condition

Amyloidosis, a rare condition, is when an abnormal protein called amyloid, which is produced in your bone marrow, and builds up in your tissues and organs. Hear one man's story of overcoming heart failure and getting a second chance at life.
41 Action News. Dave Rygalski before and after his amyloidosis diagnosis.
Feb. 12, 2020

KSHB: St. Joseph man with rare form of heart disease finds answers at Saint Luke's

After being sent home on hospice care, Dave found the team at Saint Luke's to treat his amyloidosis. KSHB talked to Dr. Brett Sperry about Dave's exciting improvement in a few short months.
Hand pointing to a heart with EKG heart rhythm on it.
Sep. 25, 2019

Cardiovascular Business: Cardiac amyloidosis increasingly common in US

Brett Sperry, MD, Ibrahim Saeed, MD, John Spertus, MD, and Shahzad Raza, MD, worked on a recent study published in the American Journal of Cardiology on the rising trend of amyloidosis cases.
Thumbnail
Feb. 23, 2019

KMBC: Carpal Tunnel Syndrome Can Be Linked to Rare Form of Heart Disease

Carpal Tunnel Syndrome affects millions of Americans, but what most people do not know is that it can be linked to a rare form of heart disease. KMBC talked to Dr. Brett Sperry about a recent study and advanced treatment options at Saint Luke's.