Hereditary transthyretin amyloidosis (hATTR) is a disease that affects many parts of your body.
It’s passed down through families and usually starts to cause symptoms once you are in adulthood. You may have heard of some other types of amyloidosis, but hATTR is rare, affecting only 50,000 people worldwide, with many of them being in Sweden, Portugal, and Japan. Hereditary transthyretin amyloidosis (hATTR) with polyneuropathy is a form of hATTR and is even rarer, affecting around 10,000 people around the world. It used to be called familial amyloid polyneuropathy.
hATTR With Polyneuropathy: Physical Changes to Expect
Hereditary transthyretin amyloidosis with polyneuropathy is a progressive disease; it gets worse over time. Amyloidosis is a buildup of abnormal deposits of a protein called amyloid in the body's organs and tissues. So symptoms vary depending on what part of the body has those deposits. People with the disease usually start to show symptoms around the age of 30, but they could show up as late as age 65.
“The most common areas where you find the deposits are the nerves and the heart,” says Rami Massie, MD, a neurologist at the Montreal Neurological Institute-Hospital. “But other places that can be affected are the meninges of the brain, the eyes, the kidneys, and even some ligaments, among others.”
So, if the heart is affected, you might have symptoms of heart failure, which could include:
- Shortness of breath
- Fatigue
- Swelling in the legs, ankles, and feet
- Abnormal heart rhythms (arrhythmias)
If it affects your stomach, you could have:
- Nausea and vomiting
- Constipation and/or diarrhea
- Unexpected weight loss
Other physical changes could include:
- Floaters in your vision
- Carpal tunnel syndrome
- Spinal stenosis (narrowing of the spinal column)
- Erectile dysfunction
- Excessive sweating
- Bladder problems
- Headaches
- Dementia
The one thing that people with hATTR with polyneuropathy have in common, though, is that they have neuropathy, or nerve pain. At first, the nerve pain can be mild. Since nerve pain can be caused by other disorders, it’s difficult to diagnose this disease early. “The early presentation of hATTR with polyneuropathy can be similar to diabetic neuropathy,” Massie said. “People start having numbness and tingling in their toes, then it spreads to the feet and legs, and eventually may reach the hands.
Neuropathic pain in the feet can make it hard to walk or stand for long periods. “You have an increased risk of injuries, ankle weakness, and risk of falling,” Massie said. Pain and numbness in the hands affect how you can do everyday tasks. For example, it can become hard to open containers, write with a pen or pencil, or even type on a keyboard.
Emotional Changes to Expect if You Have hATTR With Polyneuropathy
Living with any type of chronic, progressive disease can have an impact on your emotions. In one study, people with hATTR said they had feelings of fear and anxiety, frustration, and disappointment, as well as depression, anguish, and despair as their disease got worse. They became less able to work, take part in social activities, and even perform basic functions, leading to isolation and even being misunderstood by others.
Another emotional issue related to hATTR with polyneuropathy is knowing that this is a hereditary disease, one that you may have unknowingly passed on to your children. Many people living with the disease fear for their children’s future. Or if they don’t have children yet, they wonder whether they should. Some people struggle with telling their children and discussing if they should have genetic testing to see if they have it as well.
“If an adult is diagnosed with this disease, their children should have genetic counseling with a genetic counselor,” Massie said. This doesn’t mean they must have genetic testing, though. “Usually, the counselor meets with the children and tells them the advantages and disadvantages of testing. And then it’s up to the child to decide. There are advantages and disadvantages to hATTR genetic testing.”
Dealing With Social Isolation
Progressive and chronic diseases that affect your mobility and ability to do things for yourself can result in social isolation. It may happen slowly, so you might not notice it at first. This isolation can mean you don’t get the emotional support you need. Reaching out for help isn’t always easy, but here are some suggestions that might help you feel less isolated and alone.
Ask for help. Family, friends, even co-workers can’t know what you need if you don’t tell them. If you frequently brush off offers of help or try to always present a cheerful front, they won’t know that you need them. Speak to them honestly about what you’re going through and what you need. Maybe you need someone to meet up with for coffee or to chat on the phone. If you stay in the house all the time, maybe some friends could come over on a regular basis to keep you company. Or you might need more concrete help, like getting rides to your appointments. Most people want to help, but they need to know what they can do.
Join a support group. Support groups vary from the traditional regular face-to-face meetings to online groups that discuss the various issues you all have in common. These can be a safe place for you to talk about what you need to discuss and help you feel less alone and isolated. Those who are going through the same issues may offer valuable information or solutions – or just a shoulder to lean on when you need it.
Speak to a therapist. Talk therapy can help you organize and identify your thoughts and emotions. A therapist can suggest ways for you to work through issues, such as keeping a journal or meeting up with others.
hATTR with polyneuropathy is a disease that will cause many changes in your life, both emotionally and physically. It can be difficult to diagnose because it’s so rare unless you live in a part of the world where it is more common. It’s frequently misdiagnosed as diabetic neuropathy, fibromyalgia, carpal tunnel syndrome, and more. Once you get the right diagnosis, you can discuss it with your family and make plans about how to make your life easier as the disease goes on.
Show Sources
Photo Credit: Creatas/Getty Images
SOURCES:
Amyloidosis Alliance: “Bridge the Gap.”
Amyloidosis Research Consortium. “Hereditary Transthyretin Amyloidosis.”
Journal of Patient-Reported Outcomes: “Patient-reported burden of hereditary transthyretin amyloidosis on functioning and well-being.”
HelpGuide.org: “Coping with a Life-Threatening Illness or Serious Health Event.”
International Journal of Environmental Research and Public Health: "A Middle-Range Theory of Social Isolation in Chronic Illness.”
Neurology Live: “Prevalence of hATTR Amyloidosis.”
Orphanet Journal of Rare Diseases: “Patient-reported outcomes on familial amyloid polyneuropathy (FAP).”
Therapeutics and Clinical Risk Management: “Diagnosis and Treatment of Hereditary Transthyretin Amyloidosis (hATTR) Polyneuropathy: Current Perspectives on Improving Patient Care.”
Rami Massie, MD, neurologist, Montreal Neurological Institute-Hospital, Montreal.
