Amyloidosis Care

Amyloidosis is a rare condition that requires highly specialized care. Although amyloidosis can cause serious health complications if left untreated, it’s often manageable with prompt, proper care.

Because many amyloidosis symptoms mimic other medical conditions – and can affect more than one part of the body – it’s often hard to diagnose. That’s why it’s important to find a doctor with experience identifying and treating this complicated disease.

Whether you suspect you have amyloidosis or you want a second opinion about your treatment plan, you’ll find the expert care you need right here in Richmond. VCU Health uses a research-driven, team approach to manage amyloidosis. You receive head-to-toe care from physicians who specialize in the different parts of the body amyloidosis impacts and who are at the forefront of the latest scientific findings and treatment options.

What is amyloidosis?

People with amyloidosis have too much of an abnormal protein called amyloid. When this protein builds up in one or more organs, it prevents them from working properly or causes organ failure. Parts of the body frequently affected by amyloidosis include:

• Heart
• Intestines or blood vessels
• Kidneys
• Liver
• Nervous system

Types of amyloidosis

There are several forms of amyloidosis and each requires different treatments. These include:

• Light chain amyloidosis – Also known as primary amyloidosis, light chain amyloidosis occurs when the bone marrow produces too much amyloid protein. It often affects the heart, lungs, kidneys, liver, stomach, intestines and nervous system. Early detection is important and treatment reduces symptoms and limits further amyloid buildup.
• Age-related amyloidosis – This variety, which is also known as wild-type amyloidosis, is caused by a liver protein called transthyretin (TTR). As we age, TTR can accumulate in the heart, making it an underdiagnosed cause of heart disease in patients over the age of 60. In addition to heart problems, patients often have carpal tunnel syndrome, spinal stenosis and/or nerve pain. These symptoms may occur years before the disease affects the heart. With early identification, therapies can slow or halt age-related amyloidosis.
• Familial (hereditary) amyloidosis – Amyloidosis can also be hereditary (passed down through family members). Familial amyloidosis often causes heart disease and numerous problems with the peripheral nervous system (nerves outside the brain and spinal cord).

Amyloidosis symptoms

Amyloidosis symptoms vary depending on the type and which organs are affected. If you have amyloidosis, you may experience one or more of the following:

• Burning or tingling in your hands or feet
• Carpal tunnel syndrome (nerve compression in the wrist)
• Constipation or diarrhea
• Difficulty swallowing
• Easy bruising
• Fatigue and weakness
• Irregular heartbeat
• Lightheadedness
• Low blood pressure
• Muscle weakness
• Poor appetite and weight loss
• Shortness of breath
• Spinal stenosis (nerve compression in the spine)
• Swelling in your ankles, legs or abdomen 

It’s easy to ignore some of these symptoms because they can also be caused by less serious conditions. But if you feel unwell and don’t know why, talk to your doctor. They can order tests to rule out other medical problems or refer you to a doctor specializing in diagnosing amyloidosis.

Diagnosing amyloidosis

With amyloidosis, time is of the essence – the sooner we diagnose it, the sooner you can begin treatments to improve your long-term health and quality of life.

At VCU Health, we use many state-of-the-art tools to diagnose amyloidosis. These include:

• Laboratory tests – Blood and urine tests help us find signs of abnormal proteins and organ damage. If amyloidosis runs in your family, we will also order genetic testing.
• Imaging tests – We use a variety of imaging (radiology) procedures to look for amyloid, diagnose complications or monitor the progress of treatments. Imaging procedures we offer include cardiac magnetic resonance imaging (MRI), cardiac pyrophosphate scans, echocardiograms (heart ultrasounds), electrocardiograms (EKGs), Holter monitoring (to diagnose abnormal heartbeats) and positron emission tomography (PET) scans.
• Electromyography – Also known as EMGs, these tests measure electrical activity in your muscles.
• Endoscopy – Your doctor looks inside your body with a tiny camera to check for signs of amyloid.
• Bowel motility studies – Tests to evaluate how well parts of your digestive tract work.
• Bone marrow/tissue biopsy – Your doctor uses a special needle to remove a small amount of bone marrow or other tissue where amyloid might build up. Biopsies are considered the definitive test for diagnosing amyloidosis.

Amyloidosis treatment

If you’re diagnosed with amyloidosis, you’ll find yourself in capable hands at VCU Health. Your care team will include amyloidosis doctors and researchers from several medical and surgical specialties. Depending on the type of amyloidosis you have, you may see specialists in cardiology, medical oncology, nephrology (kidney disease), neurology, organ or stem cell transplantation, or palliative care.

Today’s therapies help make it possible to manage your symptoms, limit the spread of harmful amyloid proteins and live an active, productive life. Your care plan is tailored to your unique symptoms and needs, and may include one or more of the following:

• For ATTR (age related or hereditary disease)
  • Disease modifying drugs
    • Stabilize existing TTR proteins
    • Prevent production of further TTR proteins in liver
• For Light Chain Amyloidosis (AL) disease
  
  • Bone marrow transplant – Replaces bone marrow cells damaged by chemotherapy with healthy cells.
  • Chemotherapy – Certain types of chemotherapy (cancer medicines) kill the cells that produce amyloid protein.
• Organ transplant – If amyloidosis causes heart, kidney or liver failure, you may be put on the wait list for a transplant.

Lifesaving care for cardiac amyloidosis

In people with amyloidosis, amyloid proteins often build up in the heart. This condition, called cardiac amyloidosis, interferes with heart function and can cause problems ranging from abnormal heart rhythms to heart failure. Cardiac amyloidosis symptoms include irregular heartbeat, shortness of breath, fatigue, weakness or unexplained weight loss.

Specialists at VCU Health Pauley Heart Center have experience distinguishing cardiac amyloidosis from other types of heart disease. They also offer the latest medical and surgical treatments designed to prevent heart damage and reduce your risk of heart attack or heart failure.

Living well with amyloidosis

With early diagnosis and treatment, many people with amyloidosis go on to live healthy, fulfilling lives. Making certain lifestyle changes will help you return to work or your favorite activities.

Your doctor may recommend:

• Taking it easy – Talk to your medical providers about safe types and amounts of physical activity. If you ever feel faint or have shortness of breath, slow down and take a break.
• Finding support – Knowing you have a serious medical condition like amyloidosis can take a toll on your physical and mental health. We can connect you with other patients, local support groups or other community resources to help you cope. 

Learn more

Find out more about our multispecialty amyloidosis team or call today to schedule a consultation.

Our amyloidosis specialists

Keyur B. Shah, MD, cardiologist (heart care)
Toshihisa Satta, MD, medical oncologist (chemotherapy)
Caroline Lucas, NP, medical oncologist (chemotherapy)
Laura Cei, BSN, RN research coordinator (amyloidosis clinical trials)
Jason M. Kidd, MD, nephrologist (kidney care)
Kelly Gwathmey, MD, neurologist (brain and nervous system care)
Gordon Smith, MD, neurologist (brain and nervous system care)
Egidio Del Fabbro, MD, palliative care specialist (symptom management)
Sarah C. Paciulli, MS, RN, NP
Our team also collaborates with the Cellular Immunotherapies and Transplant Program at VCU Massey Cancer Center, which provides comprehensive care for pediatric and adult patients with a variety of blood and bone marrow disorders.

Call us

To schedule an appointment with an amyloidosis specialist at VCU Health, call (804) 828-4571.