Coordinated care from the Inova Amyloid Program helps patient return to solid ground

Leesburg resident Stanley Mills, 81, has never shied away from adventure. Born and raised in West Virginia, Stanley served in the United States Army as a paratrooper and parachute rigger after high school. When his military service was complete, he went to college, earned a business degree and spent his career in the federal government as an auditor. He and his wife, Martha, also started several businesses together. The Mills are parents of two and have three grandchildren and one great-grandson. Although Stanley is retired now, he keeps busy with home and yard projects and enjoys spending time on Lake Anna with his family.

One year ago, Stanley was diagnosed with amyloidosis. It came as a shock. “I had never heard of it before,” he recalled.

“Inova has the expertise needed to address this condition, and we bring all the relevant specialists to the patient in a coordinated, patient-centered approach for the best possible outcome.”

Timothy Welch, MD

Identification of amyloidosis improving

Until recently, amyloidosis of the heart was considered a rare disease affecting fewer than one in 200,000 Americans. However, thanks to better diagnostic tools, it has become clear that amyloidosis is much more common than previously recognized.

Stanley had experienced several episodes of falling, one of which landed him in the hospital. The hospital team did bloodwork, which revealed amyloid buildup. Stanley’s cardiologist referred him to the Inova Amyloid Program. There, Stanley saw advanced heart failure cardiologist Timothy Welch, MD, FACC, who leads the program. The Inova Amyloid Program, part of Inova Schar Heart and Vascular, provides a coordinated, multispecialty approach to treating this complex, multifaceted disease.

“Amyloid is very common, and it masquerades as many other common conditions before cardiac amyloid is diagnosed,” said Dr. Welch. “The prevalence of amyloidosis is likely underreported. It’s likely that 2 to 5% of the general population could have it. A study has demonstrated that 3.4% of African Americans are carriers of one of the genes responsible for TTR amyloid. Among people over 60 who are admitted to the hospital, 10% are carriers of this same gene.”

“Inova has the expertise needed to address this condition, and we bring all the relevant specialists to the patient in a coordinated, patient-centered approach for the best possible outcome,” Dr. Welch noted.

Demystifying a common, misunderstood condition

In amyloidosis, normal proteins can become unstable and misfold, forming amyloid protein deposits that build up in organ tissues. Over time, this amyloid buildup causes a range of symptoms. One of the most common early diagnoses for a person with amyloidosis is carpal tunnel syndrome – in about 10% of cases, an individual’s carpal tunnel symptoms are caused by amyloid buildup. Other symptoms include:

• Weight loss, fatigue
• Orthopedic symptoms like spinal stenosis, biceps tendon rupture and trigger finger (as well as carpal tunnel syndrome)
• Cardiac symptoms like palpitations or shortness of breath
• Floaters in the eyes
• Bruising
• Hypertension that alternates to hypotension when treated
• Numbness or tingling in the extremities
• Foamy urine
• Swelling in the lower extremities or abdomen

“Input from multiple specialties is needed to adequately care for amyloidosis,” said Mitch Psotka, MD, PhD, System Chief of Heart Failure and Transplant at Inova Schar Heart and Vascular and Co-Director of the Reinsch Pierce Cardiomyopathy Program. “Inova has created a system to provide multidisciplinary care through a single patient contact point to facilitate all the tests, referrals and consultations that patients need to care for the multiple complex disease processes that come with this condition.”

The amyloid program’s goal is threefold:

1. To better care for an underserved disease, prolonging life
2. To increase awareness about amyloidosis
3. To bring in advanced clinical trials and novel therapeutics to give patients every potential advantage, enabling them to receive the most up-to-date therapies available

“Inova has created a system to provide multidisciplinary care through a single patient contact point to facilitate all the tests, referrals and consultations that patients need to care for the multiple complex disease processes that come with this condition.”

Coordination: critically important for amyloidosis care

As amyloid can be an underlying cause of heart failure, this specialized program is an extension of Inova’s advanced heart failure services and provides an opportunity for specialized care to this group of patients. The multispecialty team includes:

• Cardiology
• Advanced heart failure
• Cardiac imaging
• Neurology
• Nephrology
• Hematology/oncology
• Palliative care

Care coordination makes for a smooth patient experience

At the center of the Inova Amyloid Program is the patient care coordinator, Genevieve Waugerman, who arranges all the tests and consultations necessary and helps patients navigate through the various physicians and services connected to the program. This approach enables patients to be evaluated quickly and efficiently. The program coordinator also enables robust data collection and tracks patient outcomes. For example, because amyloidosis can run in families, Waugerman arranged for Stanley to receive genetic testing. Fortunately, his condition was not caused by a genetic mutation, which meant it couldn’t be passed down to his family members. Stanley and Martha were relieved at the news.

Dr. Welch prescribed medication for Stanley that would prevent the amyloid buildup from progressing. Stanley tolerated the medication well and has been on it for one year. Throughout the testing and treatment process, Stanley and Martha took comfort from the team’s warm, friendly demeanor and specialized expertise.

“We have all the confidence in the world in the Inova Amyloid Program’s doctors and staff, and we appreciate their determination to find out what was going on and try to help me,” Stanley said. “We’re thoroughly pleased.”

Amyloidosis diagnoses are now more common than ever. For others who have received similar news, Stanley counsels them to “get good doctors, like we have here at Inova, and follow their advice.”

New diagnostic and treatment options

Whereas amyloidosis previously required a heart biopsy for diagnosis, today blood tests and noninvasive imaging can do the job. This makes the diagnostic process easier and safer for patients. Four medications have been approved by the FDA for amyloidosis, and there are multiple agents in various stages of development, thanks to a strong drug development pipeline that will build on existing therapies. Although current medications cannot remove amyloid from the body, available medications can stabilize the condition and help to prevent further buildup, and it is hoped that agents under development may be able to reverse the disease process.

To discuss a patient or to refer for evaluation, call 703-766-5847 or email Amyloid@Inova.org. Learn more about our Amyloid program.