ATTR-CM (transthyretin amyloid cardiomyopathy) is a rare heart condition that can lead to serious complications. It starts when a protein called transthyretin builds up in your heart, causing the walls to stiffen. This makes it harder for the muscle to work the way it should and can lead to heart failure if left untreated.
There are two types: hereditary, also known as familial, and wild type. Hereditary ATTR-CM (hATTR-CM) is passed down from your parents. Only one parent has to have the genetic mutation for it to be passed down. But just because one of your parents has it doesn’t automatically mean you will. The chances of you inheriting it are 50%.
Hereditary ATTR-CM is more common in people of west African descent. About 4% of Black Americans carry a gene mutation called V122I.
“Blacks are more likely to have a genetic variant that puts them at risk for ATTR-CM,” says Kevin Alexander, MD, a heart failure specialist and assistant professor of cardiovascular medicine at Stanford University in Palo Alto, California. “But they are also more likely to experience health care disparities that make it harder for them to get proper diagnosis and treatment.”
Here’s a look at some of the most common barriers to care.
Delayed Diagnosis
Research shows Black people are more likely to be diagnosed with advanced ATTR-CM.
“We don’t think it’s necessarily that they are more vulnerable to develop more severe disease: we think that it may go undiagnosed, or misdiagnosed in some patients,” says Michelle Kittleson, MD, PhD, professor of cardiology at the Smidt Heart Institute at Cedars-Sinai in Los Angeles and co-author of the American Heart Association’s guidelines for cardiac amyloidosis care.
A study in JAMA Cardiology found that Southern states, which is where most Black Americans live, have the lowest percentage of ATTR-CM diagnoses.
“That doesn’t mean it doesn’t exist in those areas. It tells us that in certain parts of the country, Blacks aren’t getting the screening that they need and are going undiagnosed,” says Alexander, who co-authored the study.
There may be a few reasons for this.
A study in the Journal of the American College of Cardiology found that, on average, patients who live in the Southeast have to travel around 75 miles to an amyloid center for treatment, compared to about 30 miles in the Northeast. But there may still be hurdles even if you live in a city with public transportation.
“If you have to take an afternoon off of work so that you can take three buses to get to your doctor’s appointment, you’re less likely to do it,” says Frederick Ruberg, MD, chief of cardiovascular medicine at Boston Medical Center in Boston, Massachusetts.
Mistrust of the Medical System
Black Americans in general are wary of the U.S. health care system. According to a 2022 Pew Research Center report, just over half of respondents — 51% — believe it was designed to “hold them back.” Fifty-five percent say they’ve had negative experiences with doctors. Another 55% believe doctors are experimenting on Black patients without their permission.
This distrust is well grounded in history. For instance, Black women were sterilized without permission so they couldn’t have children. During the Tuskegee Syphilis Study, researchers studied Black men who already had syphilis, leaving it untreated — even after a cure became available — so they could see how the disease naturally progresses. The study lasted 40 years, and there’s no evidence researchers told the men what they were doing. Cancer patient Henrietta Lacks is another example: Doctors took her cells and studied them without her consent, leading to medical breakthroughs.
Fear of the same makes it unlikely that the people who need medical care will get it. In this case, you might be nervous about doing genetic testing to see if you have the TTR gene mutation. The American Heart Association recommends the parents, siblings, and children of anyone diagnosed with hATTR-CM be tested for it.
“This way, if they test positive, we can follow them closely with [additional] screening and at the first signs of ATTR-CM start medication,” Alexander says. “We know that these treatments are most effective when they are begun early, so hopefully these steps can help to improve prognosis.”
Doctor Bias
ATTR-CM has historically been underdiagnosed in Black patients. And research shows it’s often at a more severe stage once it is diagnosed. Symptoms of ATTR-CM are sometimes brushed off or dismissed in Black patients. That’s because Black people are more likely to have other conditions, such as high blood pressure or type 2 diabetes, whose symptoms are similar to ATTR-CM.
“Even when a health care provider does more diagnostic testing, like an echocardiogram to check heart function, they are more likely to dismiss signs such as heart muscle thickening to high blood pressure,” Kittleson says.
Doctors may also not be aware of other ATTR-CM symptoms that can also appear in Black patients. These include:
- Neuropathy, or numbness or tingling in your hands and feet
- Spinal stenosis
- Carpal tunnel syndrome
“Medical providers may not make the connection, but if I see a Black patient with one of the above conditions, and they also have symptoms like shortness of breath or swelling in their legs, I’m going to be highly suspicious that it’s ATTR-CM,” Kittleson says.
The Financial Burden
Four drugs are FDA approved to treat ATTR-CM:
- Acoramidis (Attruby)
- Patisiran (Onpattro)
- Tafamidis (Vyndamax)
- Vutrisiran (Amvuttra)
They've been game changers when it comes to treatment, helping you live longer, lowering the chances of hospitalization, and improving your quality of life.
But research shows Black people have less access to these treatments. One reason may be the expense. The out-of-pocket costs for these medications range from about $244,000 to nearly $500,000 a year. And they have to be taken for life.
Even if you do have health insurance, you may still be responsible for some of the cost. For example, if you’re on Medicare, you may pay up to $2,100 out of pocket each year for covered prescription drugs.
The good news is that some hospitals participate in the 340B Drug Pricing Program. This requires drug companies involved with Medicaid to sell outpatient drugs at discounted prices to health care organizations, including hospitals or clinics, who care for many uninsured and low-income patients. If you’re eligible, you may be able to get your medications for free or at a very low cost.
Ruberg says one way to control costs is to look for medical centers that have specialty pharmacies with access to grants or discounts they can pass on to you. Your doctor might be able to work with your insurance company to figure out which drug has the lowest co-pay, Kittleson says. You can also visit the drug manufacturer’s website to see if a patient assistance program is available.
Lack of Access to Clinical Trials
Even though hATTR-CM is more common in Black people, most clinical trial participants are White.
“There hasn’t always been a lot of effort made to specifically recruit Black patients,” Alexander says.
One promising clinical trial is the SCAN-MP study, where investigators are using special heart scans to screen and diagnose Black patients over the age of 60 with signs of heart failure. The hope is that it will be an effective screening tool for people who carry the gene mutation but aren’t yet experiencing symptoms.
Two good places to learn about clinical trials you may be eligible for are the Amyloidosis Research Consortium and Amyloidosis Support Groups. You can also go to ClinicalTrials.gov and type ATTR into the search box.
“The more research we can do in Black patients, the more we can understand health care disparities and find ways to solve them,” Alexander says.
Show Sources
Photo Credit: E+/Getty Images
SOURCES:
Kevin Alexander, MD, heart failure specialist; assistant professor of cardiovascular medicine, Stanford University, Palo Alto, California.
Frederick Ruberg, MD, chief of cardiovascular medicine, Boston Medical Center, Boston, Massachusetts.
Michelle Kittleson, MD, professor of cardiology, Smidt Heart Institute, Cedars-Sinai, Los Angeles.
International Journal of Cardiovascular Imaging: “Disparities in diagnosis and outcomes in American patients with transthyretin cardiac amyloidosis.”
JAMA Cardiology: “Geographic Disparities in Reported US Amyloidosis Mortality From 1979 to 2015: Potential Underdetection of Cardiac Amyloidosis.”
Journal of the American College of Cardiology: “Geographic Healthcare Disparities and Diagnostic Trends Among Patients with Transthyretin Amyloid Cardiomyopathy,” “A Breakthrough With a Burden: Access, Affordability, and the Future of ATTR-CM Therapy.”
Current Cardiovascular Risk Reports: “Racial and Ethnic Disparities in Transthyretin Cardiac Amyloidosis.”
Cardiology: “Cardiac Amyloidosis: Evolving Diagnosis and Management: A Scientific Statement From the American Heart Association.”
American Heart Association: “High Blood Pressure Among Black Adults,” “Genetic Testing and Counseling for Hereditary Transthyretin Amyloidosis (hATTR).”
American Hospital Association: “Fact Sheet: The 340B Drug Pricing Program
Pew Research Center: “Black Americans' mistrust of health care and medical research.”
Journal of Cardiac Failure: “Validation Of The Transthyretin Amyloidosis Cardiomyopathy Score In A Black And Hispanic Screening Population: An Interim Analysis Of The First 342 Cases From The SCAN-MP Study.”
