This guide is designed to help you understand transthyretin amyloid cardiomyopathy (ATTR-CM), a rare but serious condition. By breaking down the key aspects of the disease, we aim to provide you with clear, easy-to-understand information.
What is ATTR-CM?
ATTR-CM stands for transthyretin amyloid cardiomyopathy. It is a condition where an abnormal protein called amyloid builds up in the heart tissue, making it stiff and less able to pump blood effectively. This can lead to symptoms such as fatigue, shortness of breath, and swelling in the legs.
Key Facts About ATTR-CM
Background
- ATTR-CM is a type of amyloidosis, a group of diseases caused by protein deposits in tissues and organs.
- The condition specifically affects the heart, leading to heart failure over time.
Causes
- ATTR-CM occurs due to misfolding of a protein called transthyretin (TTR).
- There are two main types:
- Hereditary ATTR-CM: Caused by inherited genetic mutations.
- Wild-type ATTR-CM: Occurs without genetic mutations, typically in older adults.
Incidence and Prevalence
- Incidence refers to how many new cases occur each year, while prevalencerefers to how many people have the condition at a given time.
- ATTR-CM is considered rare, but its prevalence may be underestimated due to challenges in diagnosis. Studies suggest that wild-type ATTR-CM may affect up to 25% of men over 80 years old.
Who is Affected?
- Age: Wild-type ATTR-CM typically occurs after age 60, while hereditary ATTR-CM can appear earlier depending on the genetic mutation.
- Gender: Men are more commonly affected than women.
- Ethnicity: Certain genetic mutations are more common in specific populations, such as African Americans (associated with the V122I mutation).
Geographic Distribution
- While ATTR-CM can occur worldwide, hereditary cases are more frequent in regions with higher rates of specific genetic mutations (e.g., West Africa).
How Does ATTR-CM Impact You?
Symptoms
Living with ATTR-CM can be challenging due to its symptoms, which may include:
- Fatigue and weakness.
- Shortness of breath during activity or even at rest.
- Swelling in the legs or abdomen.
- Irregular heartbeats or palpitations.
These symptoms can significantly affect your daily activities and quality of life.
Life Expectancy
Without treatment, life expectancy after diagnosis can be limited (typically 2–5 years). However, newer therapies have improved outcomes for many patients.
Managing and Treating ATTR-CM
Available Treatments
Treatment focuses on slowing disease progression and managing symptoms:
- Medications:
- Tafamidis: Slows disease progression by stabilising the TTR protein.
- Patisiran or Inotersen (for hereditary cases): Reduce amyloid production by targeting TTR production in the liver.
- Symptom Management:
- Diuretics (to reduce swelling).
- Medications for heart rhythm problems or heart failure management.
- Liver Transplant: For hereditary cases, replacing the liver can stop the production of abnormal TTR protein.
- Heart Transplant: In severe cases where heart function is critically impaired.
Ongoing Research
Clinical trials are exploring new therapies to improve outcomes further, including gene editing techniques and drugs targeting amyloid deposits directly.
Living With ATTR-CM
Lifestyle Adjustments
- Monitor your salt intake to manage swelling and fluid retention.
- Stay active within your limits; light exercise can help maintain strength.
- Regular follow-ups with your healthcare team are essential for monitoring disease progression.
Emotional Support
Living with a chronic illness can take an emotional toll. Speaking with a counsellor or joining support groups can help you cope better.
Support Groups and Resources
Several organisations provide information and support for individuals with ATTR-CM and their families:
- Amyloidosis Research Consortium UK (org.uk) – Offers resources and support for patients in the UK.
- Amyloidosis Foundation (org) – Provides global patient education and advocacy.
- British Heart Foundation (org.uk) – Offers general support for heart-related conditions.
