Coping with hATTR amyloidosis: Managing everyday challenges

Last updated Mar. 14, 2024, by Susie Strachan
Fact-checked by Patricia Silva, PhD

Hereditary transthyretin (hATTR) amyloidosis is a rare genetic disorder characterized by the buildup of toxic clumps of protein transthyretin in tissues and organs. These clumps are referred to as amyloid fibrils. The disease is usually diagnosed in adulthood.

The disorder can affect the heart, nervous, and digestive systems. Symptoms include dizziness and low blood pressure, numbness in the feet and hands, nausea, and fatigue.

Learning to live with hATTR amyloidosis might include taking medications, making lifestyle changes such as creating a schedule that takes into account fluctuations in your energy levels and symptoms, using mobility aids, and getting emotional support.

How does hATTR affect daily life?

The chronic nature of hATTR amyloidosis and its symptoms can have a profound impact on daily life.

Anne Marie Carr underwent a diagnostic odyssey before she finally learned she had hATTR amyloidosis in September 2015 at the age of 57. Carr, who is the CEO of Transthyretin Amyloidosis Canada, spent more than six years trying to get a diagnosis.

When her first symptoms appeared, they were attributed to other medical conditions. Her breathing problems were believed to be from asthma set off by environmental factors. She was told her weight loss and chronic diarrhea were from viruses that were going around at the time.

“I remember that tingling sensation in my fingertips, and I had trouble opening a bottle of water or buttoning my clothes,” says Carr, who lives in Hagersville, Ontario.

She clearly remembers the catalyst for having her blood pressure checked: “One day, I was going to the library in Ancaster, all of a sudden I thought I was going to pass out, just going up the four or five steps to get to the main level.”

Her blood pressure was found to be dangerously low, and her doctor called for an ambulance. She was then referred to a cardiologist, who ordered a cardiac biopsy.

She wryly notes she hit the hATTR jackpot: it affects her heart, digestive system, and nervous system.

Peter Gorevic, MD, is a professor emeritus of medicine with a specialty in rheumatology at the Icahn School of Medicine at Mount Sinai in New York City. His main clinical and research interest for the past 40 years has been in the area of amyloidosis, including the hereditary forms.

Gorevic says there are two main reasons why a person is referred to him.

“The first is that they’ve had a biopsy done to look for amyloidosis,” says Gorevic, who also has a part-time appointment at the State University of New York at Stony Brook.

He adds that the location of the biopsy depends on the organ suspected of being involved in the disease, such as the skin, kidneys, or heart.

The second reason is that a person may have carpal tunnel syndrome, which usually shows up as numbness in the thumb and in the first two fingers of the hand. It can cause disability to the point where they are unable to grip objects. He says this is often one of the early symptoms of amyloidosis.

“The first thing we do is a very thorough evaluation, which involves functional testing,” he says. “That includes peripheral neuropathy, whether it’s lower extremity, upper extremity. And whether it’s interfering with whether the person is able to walk. Is the person having difficulty walking? If so, what’s the problem? How far up does the numbness go?”

Although not all people will experience the same symptoms, hATTR amyloidosis also can affect:

the heart, leading to heart-related symptoms such as irregular heartbeats or cardiomyopathy (thickening of the heart wall), and potentially to heart failure
the digestive system, causing symptoms including nausea, diarrhea, constipation, or weight loss
the autonomic nervous system, leading to issues such as low blood pressure, or difficulty regulating body temperature, perspiration patterns, poor digestion, bowel motility, and erectile dysfunction
the eyes, causing blurred vision, dark floaters, or glaucoma.

Discussing hATTR amyloidosis with your doctor

Medical management of hATTR amyloidosis starts by discussing the condition with your healthcare team, such as a neurologist, a rheumatologist, a cardiologist, and potentially, genetic counselors.

Gorevic says that when seeing a new patient he starts by getting a thorough family health history to see if any relatives might have had hATTR amyloidosis. Then he walks through their symptoms.

“A very important part of it was going over how neuropathy was impacting a person’s life,” he says. “Is their handwriting so bad they can’t do things, or are they dropping things out of their hands? Are they able to sleep at night, because the numbness or the burning is keeping them up at night? Are they able to ambulate? And if they’re not able to ambulate, what sort of things are they having difficulty with?”

Gorevic then explores options that can help his patient deal with the symptoms. This might include sending them for physical therapy or cardiac rehabilitation, or prescribing medications to reduce numbness.

Other treatments for hATTR amyloidosis might include:

medications that aim to reduce the production of abnormal transthyretin protein and help prevent the buildup of amyloid fibrils
medications that treat disease-related symptoms in the heart, digestive system, and for neuropathy.

Coping with symptoms

Like other people living with hATTR amyloidosis, Carr has experienced fatigue, pain, and emotional challenges, which affect her social activities and maintaining a normal routine.

But finding healthcare providers who took the time to explain her symptoms and overall disease progression has made a difference in Carr’s life.

Working as an advocate for herself and others diagnosed with this chronic disease has also helped. She founded Transthyretin Amyloidosis Canada and is also on the board of directors of the Canadian Amyloidosis Support Network, a volunteer organization that helps patients, caregivers, and families stay informed.

“While I know you have to be your own best advocate, you also have to have connections,” Carr says. “My motivation is to provide shortcuts to people who are newly diagnosed, and to support them, to get them what they need.”

Some tips for coping with hATTR amyloidosis symptoms include:

adapting daily activities to accommodate changes in mobility and energy levels
using assistive devices like canes, walkers, or wheelchairs to provide stability and decrease the risk of falls
eating smaller meals more frequently to help deal with gastrointestinal symptoms
eating higher protein foods and bland food to help with nausea and vomiting.

You may need a multidisciplinary team of healthcare providers for help in dealing with hATTR amyloidosis symptoms:

neurologist for numbness and tingling in hands and feet
rheumatologist for joint symptoms, including pain, stiffness, and inflammation
cardiologist for heart issues
gastroenterologist to deal with stomach and intestinal problems
nephrologist to deal with kidney issues
physical therapist to improve mobility and manage muscle weakness
occupational therapist to assess your home environment and work with you to draft a priority list of daily tasks
registered dietitian to develop a nutrition plan that addresses any digestive issues
ophthalmologist to diagnose and treat eye conditions.

Creating a routine

When developing your daily routine for living with hATTR amyloidosis, consider the following:

Start your day with activities that help improve mobility and energy levels, such as gentle stretching or low-impact exercises.
Make a priority list of tasks based on your energy levels and symptom severity. Focus on essential activities first and spread out tasks throughout your day.
Plan for rest breaks as needed to manage fatigue.
Follow a balanced and nutritious diet tailored to any specific digestive issues. It may include planning meals and snacks at regular intervals to help maintain energy levels.
Set reminders to ensure you take your medication at the prescribed times.
Incorporate activities that contribute to emotional well-being, such as spending time with loved ones and friends, doing hobbies, or practicing relaxation techniques such as meditation or deep breathing.
Wind down in the evening with activities that promote relaxation.

Flexibility is key, so try to adapt your routine based on how you feel each day.

Emotional support

Coping with the uncertainty of the disease, managing symptoms, and facing potential limitations on daily activities may contribute to stress, anxiety, and depression.

Gorevic says many of his patients have found information on the internet that doesn’t apply to hATTR amyloidosis specifically.

“They read about the terrible forms of amyloidosis that can be lethal within short periods of time. They immediately assume that’s what they got, and they come in very depressed,” he says. “And also, these are people who have been very active much of their lives, and they are depressed because they know they have a multisystem disease that’s impacting them.”

Carr also has found that people are suffering emotionally due to the nature of the illness.

“A diagnosis can be devastating,” Carr says. “It’s like riding a roller coaster. You go through all the stages of grieving.”

Her path through the disease involves helping newly diagnosed people connect with resources and suggesting they get help from mental health professionals.

Reaching out to friends, family, or support groups can provide valuable assistance in managing the emotional challenges associated with living with hATTR amyloidosis. Talking to a sympathetic person can be an outlet for expressing feelings, fears, and uncertainties related to the condition. It can both boost your emotional well-being and give you a sense of community.

Make the time to do something that brings you joy, such as talking with friends, petting a companion animal, reading a favorite book, watching a good movie, or spending time outside in nature.

Support groups can provide information, social connection, and emotional support. Mental health counseling may help alleviate feelings of anxiety and depression.

Check with your local or regional hATTR amyloidosis associations or your personal healthcare provider, as they may know about community-based support groups that meet in person or online. They may also be able to give you recommendations to mental health professionals.

FAP News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.