African Americans Are at a Higher Risk of Transthyretin Amyloid Cardiomyopathy

Pfizer Rare Disease is an approach taken by pharmaceutical giant Pfizer to develop treatments for rare and orphan diseases. In the past, the company has worked with the National Newspaper Publishers Association (NNPA), which represents the Black Press of America, to raise awareness and develop treatments for sickle cell disease. Through this partnership, the two organizations were able to communicate openly with the African American community. This is important, as those of African American descent live at a higher risk of SCD. Now, the two organizations are working together again, but this time their goal is to educate the Black community about transthyretin amyloid cardiomyopathy (ATTR-CM).


According to the American Heart Association, ATTR-CM is a rare, underdiagnosed form of amyloidosis that is characterized by deposits of amyloid protein fibrils in the left ventricle. These deposits stiffen the ventricle walls, making it difficult for the heart to relax, fill with blood, and squeeze blood out of the heart. There are two forms of this condition, one of which is hereditary while the other is wild-type. The former is the result of a mutated transthyretin gene, and it is passed from parent to child. In the United States, the most common mutation in this gene occurs in African Americans. The latter does not run in families, and it is severely underdiagnosed. Doctors are working to learn more about this form of ATTR-CM.

Symptoms include:

  • Coughing
  • Wheezing
  • Shortness of breath
  • Increased heart rate
  • Numb hands and/or feet
  • Bloating in the abdomen
  • Swelling in the ankles, legs, and feet
  • Confusion
  • Palpitations
  • Carpal tunnel syndrome

It is important to seek treatment for this condition, as it can lead to heart failure. Treatment is typically focused on preventing heart failure and its symptoms, along with stopping deposits of amyloid protein fibrils from forming. Medications for ATTR-CM are currently being developed as well, many of which are promising. If the condition progresses to heart failure, a heart transplant may be necessary.

Raising Awareness

Because ATTR-CM is so unknown and underdiagnosed, Pfizer Rare Disease and the Black Press of America wanted to take on the task of educating people. They focused specifically on African American people as they live at a heightened risk of this condition.

Dr. Kevin Williams, the chief medical officer of Pfizer Rare Disease, points out that a genetic variant related to this condition is more common in African American people, therefore putting them at a higher risk of ATTR-CM. Called V122I, it is one of 120 genetic variants that causes this condition, and it affects exclusively African Americans. As this form of amyloidosis is not well known and underdiagnosed, it is important that patients are able to recognize the signs. In these cases, the patient is their own best advocate.

About three to four percent of African Americans carry this mutation, and they are also the population who experiences heart disease at the highest rate. Because of this, they should be aware of the signs of ATTR-CM and seek medical attention if they begin experiencing these signs.

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