17855 Amyloidosis Attr

Overview

Transthyretin amyloidosis (ATTR) is a rare condition in which a protein called transthyretin, which normally travels in the blood, becomes misshapen and clumps together to form deposits called amyloid. These deposits can build up in organs such as the heart, nerves, and digestive system, interfering with how they work. The condition can be inherited from a family member or can develop with ageing even without a family history.

ATTR amyloidosis is considered a rare disease. However, the age-related type – sometimes called wild-type ATTR – is increasingly recognised as a cause of heart problems in older adults. It may be more common than previously thought, but many cases are still undiagnosed.

Hereditary ATTR usually appears in adulthood, often between ages 30 and 60, depending on the genetic change involved. The age-related (wild-type) type predominantly affects men over the age of 60, though women can also develop it. Because ATTR can be inherited, multiple family members may be at risk.

Symptoms

Common symptoms

• Shortness of breath with mild activity or when lying flat
• Swelling in the legs, ankles, or feet
• Fatigue or unusual tiredness
• Numbness, tingling, or burning pain in the hands and feet
• Dizziness or fainting, especially when standing up
• Unintentional weight loss
• Diarrhoea or constipation that is persistent
• An enlarged tongue or difficulty swallowing (less common)

Causes

Main causes

• Hereditary ATTR is caused by a change (mutation) in a gene that provides instructions for making the transthyretin protein. This change makes the protein unstable and more likely to form amyloid deposits.
• Wild-type (age-related) ATTR occurs when the normal transthyretin protein slowly builds up in tissues as people age, especially in the heart.

Risk factors

• Having a family history of ATTR amyloidosis or an abnormal TTR gene
• Being over 60 years of age (for the wild-type form)
• Being male (wild-type ATTR is more common in men)
• Having a diagnosis of carpal tunnel syndrome in both hands, which is sometimes an early sign

When to see a doctor

See a doctor urgently if:

• If you have new, persistent shortness of breath, leg swelling, or fainting
• If you have numbness or tingling that is getting worse
• If you have unusual and persistent digestive problems

Book a routine appointment if:

• If you have a family history of ATTR amyloidosis and are considering genetic counselling or testing
• If you notice new symptoms that are not going away

Diagnosis

Diagnosis of ATTR amyloidosis usually begins with a detailed medical history, physical examination, and discussion of your symptoms. A doctor may then refer you to a specialist, often a cardiologist, neurologist, or a specialist amyloidosis centre. The diagnosis is confirmed when amyloid deposits are found in a tissue sample, or when scans and blood tests point strongly to the condition.

Tests that may be done

• Blood and urine tests to check organ function and look for abnormal proteins
• An electrocardiogram (ECG) to check the heart's electrical activity
• An echocardiogram (ultrasound of the heart) to look at its structure and pumping function
• Cardiac magnetic resonance imaging (MRI) for detailed heart images
• A bone scan (DPD/PYP scan) that can show amyloid deposits in the heart
• A biopsy, taking a small piece of tissue (often from fat, skin, or heart) to look for amyloid under a microscope
• Genetic testing to check for the hereditary form

What to expect at your appointment

The diagnostic process may take several weeks or months, as these tests need to be done and reviewed by specialists. You may be asked to see more than one specialist. It is normal to feel anxious while waiting, but the information gathered will help your team give you a clearer picture of your health and next steps.

Treatment

Treatment for ATTR amyloidosis focuses on slowing the progression of the condition, managing symptoms, and supporting the organs that are affected. The exact treatment plan depends on the type of ATTR (hereditary or age-related), which organs are involved, and your overall health. Your healthcare team will work with you to create a personalised plan.

Self-care at home

• Take all prescribed medicines as directed by your doctor, even if you feel well.
• Monitor your weight daily, as sudden weight gain may indicate fluid build-up.
• Limit salt in your diet to help manage swelling and blood pressure.
• Stop smoking and limit alcohol, as these can put extra strain on the heart.
• Keep a diary of symptoms and report any changes to your healthcare team.

Medical treatments

Doctors may prescribe medicines to help manage heart failure symptoms, such as diuretics (water tablets) to reduce fluid build-up, and other medications to support heart function. Specific treatments for ATTR may include medications that help stabilise the transthyretin protein or reduce its production. These are only available through specialist services and are chosen based on your individual situation. Gene-silencing therapies may also be considered for hereditary ATTR. You will be told about all appropriate options and their possible benefits and risks.

When is surgery considered?

In some cases, surgery may be considered. For example, if ATTR causes severe heart valve problems, valve replacement may be recommended. In very advanced heart failure, a heart transplant or mechanical heart pump (ventricular assist device) could be an option, but these are major procedures and only suitable for a small number of people.

Living with this condition

Living with ATTR amyloidosis involves adjusting to a new routine, which may include regular medical appointments, taking medicines, and adapting to changes in energy levels. It is important to pace yourself and rest when needed. Many people find it helpful to prioritise daily activities and accept support from family and friends.

Lifestyle tips

• Stay active at a level that is comfortable – gentle activities like walking, stretching, or light cycling can help maintain fitness without overtiring you.
• Plan for extra rest after demanding activities.
• Wear comfortable shoes and check your feet regularly if you have numbness or tingling.
• Avoid heavy lifting or strenuous exercise that makes you very breathless.
• Join a support group if possible – connecting with others can be very reassuring.

Diet and exercise

A heart-healthy diet can support your overall well-being. This includes eating plenty of vegetables, fruits, whole grains, and lean proteins, and avoiding excess salt. Your doctor or a dietitian can give you specific advice, especially if you have fluid build-up or digestive symptoms. Gentle exercise, like short walks, can help keep your muscles strong, but always check with your care team about what is safe for you.

Mental health and emotional wellbeing

A diagnosis of a long-term condition such as ATTR can be emotionally challenging. It is common to feel anxious, low, or stressed. Talking to a counsellor or psychologist, if available, can help. Open communication with your family about your worries and needs can also make a big difference. If you are referred to a specialist cancer support service – even though ATTR is not cancer – they may still offer emotional support.

Prevention

Hereditary ATTR cannot be prevented because it is caused by a genetic change. However, if you have a family history, genetic counselling can help you understand your risk and consider testing. For the age-related type, there is currently no known way to prevent it, but managing other heart risk factors, such as high blood pressure and diabetes, may support your overall heart health.

Vaccines

Staying up to date with recommended vaccinations, including the flu vaccine and pneumococcal vaccine, is especially important for people with heart or nerve conditions. Ask your local health service or pharmacist which vaccinations are recommended for you.

Screening programmes

If you have a family history of ATTR, your healthcare provider may suggest regular monitoring, including heart scans and blood tests, to detect early signs. Screening is not recommended for the general population, but genetic counselling can help decide if testing is right for you and your family.

Complications

If left untreated

• Worsening heart failure, leading to severe breathlessness and reduced mobility
• Progressive nerve damage, causing weakness, loss of sensation, and difficulty with balance
• Digestive problems, leading to poor appetite and weight loss
• Irregular heart rhythms (arrhythmias), which may increase the risk of stroke or sudden cardiac arrest

Long-term outlook

The outlook for ATTR amyloidosis has improved in recent years. Treatments are now available that can slow the progression of the condition, and supportive care helps many people maintain a good quality of life for years. The course of the disease varies greatly from person to person. Your healthcare team will work with you to manage symptoms and plan for the future in a hopeful and realistic way.

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