Today Is Rare Disease Day: Here’s What You Should Take Away

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WHAT IS RARE DISEASE DAY AND WHAT IS ITS SIGNIFICANCE?

Rare Disease Day takes place each year on the last day of February and the goal of it is to raise awareness about rare diseases and their impact on patients’ lives.

  • In the United States, a rare disease is defined as affecting less than 200,000 people
  • There are more than 7,000 known rare diseases, which affect about 25 – 30 million people in the U.S. alone.

WHAT IMPACT DO RARE DISEASES HAVE ON THE AFRICAN AMERICAN COMMUNITY?

A: There are some rare diseases that occur at a higher frequency in African-Americans than in other populations. Some of these, like sickle-cell anemia and lupus you’ve probably heard of before. Today, we’re here to talk about hereditary ATTR (hATTR) amyloidosis, ((Hereditary Am-ILL-Oh-Doh-sis)) a rare genetic disease that also affects African-Americans.

 TELL US ABOUT HATTR AMYLOIDOSIS

WHAT IS IT AND WHAT ARE THE SIGNS AND SYMPTOMS OF THE CONDITION?

hATTR amyloidosis is a rare genetic disease that is rapidly progressive, life-threatening, and affects 50,000 people worldwide.

  • The condition is caused by a gene change (mutation) that affects the function of a protein in the blood called transthyretin (TTR). This protein is made primarily in the liver and helps carry substances such as vitamin A. TTR gene mutations associated with hATTR amyloidosis cause the accumulation of amyloid deposits in multiple organs of the body, including the nerves, heart, and gastrointestinal (GI) tract
  • Four percent of African Americans carry a specific TTR gene mutation called Val122Ile
  • Some symptoms of hATTR amyloidosis may include numbness and tingling in the hands and feet, burning pain, dizziness, shortness of breath, and leg swelling.
  • hATTR amyloidosis is a progressively debilitating and often fatal disease that can lead to a shortened life expectancy
  • Misdiagnosis is common with hATTR amyloidosis because symptoms can resemble or are sometimes confused with those of other conditions.
  • hATTR amyloidosis is passed down from parent to child in an autosomal dominant fashion. Everyone gets two copies of the TTR gene, one inherited from each parent. When one parent carries an autosomal dominant mutation, each child has a 50 percent chance of inheriting that mutation. However, inheriting the TTR gene with a mutation does not necessarily mean that he or she will develop hATTR amyloidosis.

WHY IS IT UNDER DIAGNOSED?

A: Symptoms of hATTR amyloidosis can vary widely and misdiagnosis is common because some symptoms can resemble those of other, more common conditions like carpal tunnel syndrome, diabetic neuropathy, Chronic Inflammatory Demyelinating Polyneuropathy, or hypertensive heart disease.

  • Importantly, in general, racial and ethnic minorities are likely to face greater barriers to screening, diagnosis, and treatment of diseases due to a variety of cultural, socioeconomic, and environmental factors, making it harder for these groups to seek an accurate diagnosis and proper treatment

 WHY IS THIS DISEASE MORE PREVALENT IN AFRICAN AMERICANS?

African-Americans have an increased risk of carrying a genetic mutation associated with the disease. It is estimated that about four percent of African-Americans may have a common type of mutation in the TTR gene, called the Val122Ile mutation.

WHAT SHOULD YOU DO IF YOU EXPERIENCE HATTR AMYLOIDOSIS SYMPTOMS?

A: If you’re experiencing symptoms associated with hATTR amyloidosis or if you have a family history of the condition, you should talk to your healthcare provider.

  • It’s important to have open and honest conversations with your family about your risk to identify and address symptoms sooner. Since the condition is genetic, knowing your family history can help lead to an earlier diagnosis
  • Genetic testing can confirm or rule out hATTR amyloidosis or help determine your chance of developing or passing it on.
  • There are resources available. Alnylam is sponsoring no-charge, third-party genetic testing and counseling for individuals who may carry gene mutations known to be associated with hATTR amyloidosis through the ALNYLAM ACT® program, available in the U.S. and Canada. For more information, visit AlnylamAct.com

  WHERE CAN LISTENERS GO FOR MORE INFORMATION?

A: For more information and resources on hATTR amyloidosis, visit Alnylam’s hATTRBRIDGE.com.

ARE THERE TREATMENTS AVAILABLE FOR HATTR AMYLOIDOSIS?

A: There are FDA-approved therapies available that address the underlying cause of hATTR amyloidosis. Additional treatment options for hATTR amyloidosis are currently being researched. Patients should speak with their healthcare provider about treatment options.

HOW IS HATTR AMYLOIDOSIS DIAGNOSED?

A: hATTR amyloidosis is diagnosed in a variety of ways; genetic testing may be used to identify the specific TTR mutation and help confirm a diagnosis. Biopsies are also commonly used to confirm the presence of TTR amyloid protein. Other diagnostic tests for hATTR amyloidosis may include tests that look at nerve, kidney and heart function.

IS HATTR AMYLOIDOSIS FATAL?

A: The condition is progressive and can have a debilitating impact on a patient’s life and may lead to premature death within approximately 5 years following diagnosis. This is why identifying and addressing symptoms sooner and obtaining an accurate diagnosis is critically important.

 WHAT TYPES OF QUESTIONS SHOULD I ASK MY FAMILY MEMBERS OR RELATIVES IF I THINK THEY MAY HAVE HATTR AMYLOIDOSIS?

A: If you suspect that hATTR amyloidosis may run in your family, it’s important to ask about the signs and symptoms your relatives have experienced. I’d also encourage them to reach out to their doctors to share additional information.

Ella Horton answers your ‘Text Tom’ questions on the next page. 

 

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