A diagnosis of hereditary transthyretin (hATTR) amyloidosis raises lots of questions – about treatment, how the condition could advance, and your future. But working with your health care team and planning ahead may help to ease your mind.
Hereditary Transthyretin Amyloidosis (hATTR) With Polyneuropathy Progression
hATTR amyloidosis is a rare illness that you get from one or both of your parents. A change in the transthyretin (TTR) gene causes the condition. This leads to a buildup of abnormal proteins called amyloids in your organs and tissues, weakening them.
Since hATTR amyloidosis is rare and affects many parts of your body, it can be hard for doctors to spot the illness. It usually starts slowly, advancing over many years. You may not even notice symptoms until you’re well into adulthood. And if you do have symptoms like fatigue, fever, unexplained weight loss, or stiffness, doctors often mistake them for other illnesses, which delays treatment.
hATTR amyloidosis is a systemic disease, meaning it impacts your whole body. It often damages many nerves, called polyneuropathy. Many people with the condition say it feels like burning, pins and needles, stabbing, or squeezing. The pain could come and go or stay with you all the time. Other symptoms can affect your:
- Heart. Heart-related symptoms include extreme tiredness (fatigue), trouble catching your breath, and swelling in your legs, ankles, and feet (edema).
- Stomach. This includes nausea, vomiting, diarrhea, constipation, and unexplained weight loss.
- Eyes. Glaucoma, eye floaters, and dry eyes are all problems that can affect your eyes.
- Kidneys. You may have kidney failure and too much protein in your urine.
You could also have dementia, stroke-like symptoms, erectile dysfunction, and other symptoms. Although the condition runs in families, your symptoms could look different from those of your parents or siblings. They may be more or less serious, begin at a different age, and affect other parts of your body.
Without treatment, hATTR amyloidosis gets worse over time, and you’ll lose your life to the disease. On average, people with the illness live between 2.5 and 5 years after diagnosis or even longer.
Working With Your Doctor
Your relationship with your doctor and the rest of your health care team is crucial when dealing with any illness, but especially one as serious and rare as hATTR amyloidosis. You’ll want to learn all you can about the disease so you can make knowledgeable decisions and communicate with those who will be treating you.
It’s also important to track your symptoms and find out whether you have a family history of hATTR amyloidosis. These are critical clues that will help guide your doctor in diagnosis and treatment as the disease advances.
Also, think about getting a second opinion before starting treatment. If you have health insurance, your provider will probably cover the cost. Since hATTR amyloidosis is rare, you may have trouble locating a doctor familiar with the condition. Groups like the Amyloidosis Research Consortium and Amyloidosis Foundation can help you find doctors who are experts in the disease.
Palliative Care for Hereditary Transthyretin Amyloidosis (hATTR) With Polyneuropathy
hATTR amyloidosis triggers a range of symptoms across many parts of your body, some mild and others serious. As the condition advances, palliative care may be a good option for you and your family. It’s a type of medical care that offers relief from the symptoms of a serious illness to improve your quality of life. You’ll have palliative care along with other treatments, and it doesn’t depend on whether there’s a cure for your illness.
For example, if hATTR amyloidosis has caused nerve damage, you’re likely in serious pain. Your palliative care team – made up of doctors, nurses, and other experts – will work with your regular doctor to create a treatment plan to ease painful symptoms. It could include both medicine and non-drug solutions. Palliative care may also encompass treatment for heart and kidney problems, diarrhea, constipation, nausea, vomiting, and other related health issues.
“If there's something preventing a patient from enjoying their quality of life, or we think we can extend their life by treating this, we're going to do it,” says Thomas Lally, MD, CEO of Denver-based Bloom Healthcare, which offers palliative care and other home-based primary care services.
Living with a serious illness also can take a toll on your mental health. Some symptoms of hATTR amyloidosis can make it hard to carry out daily activities, while others can leave you socially isolated. To help you cope, palliative care professionals such as psychologists and social workers offer support through therapy and medication.
Health care providers are often hesitant to talk about palliative care because they think it only means end-of-life care, says Nicole DePace, a palliative care nurse practitioner based in Norwell, MA.
“There's a worry that if they bring it up, it might cause anxiety or diminish their patient's hope. A lot of times medical providers are waiting for a sign that their patient is ready to talk about palliative care. So something patients and caregivers can do is be informed and ask for support from their medical team. They don’t have to wait for their medical team to make the recommendation.”
And when you’re ready to have the conversation, “people are actually incredibly relieved to be able to start planning and to start being able to talk about things that they were really afraid to do beforehand,” Lally says.
Hospice and end-of-life care
While doctors have made many strides in treating hATTR amyloidosis, unfortunately, many people with the condition face death earlier than expected. People with a serious illness who have 6 months or less left to live may consider hospice care. Like palliative care, it focuses on improving your quality of life, but you’ll stop getting treatment for your illness. Hospice care provides nursing care, therapy, social, spiritual, religious support, and more.
Show Sources
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SOURCES:
Nicole DePace, palliative care nurse practitioner, Norwell, MA.
Thomas Lally, MD, CEO, Bloom Healthcare, Denver, CO.
American Heart Association: “What is hATTR amyloidosis?”
Amyloidosis Research Consortium: “Disease Overview: Hereditary Transthyretin Amyloidosis.”
Amyloidosis Foundation: “Hereditary Amyloidosis.”
Mayo Clinic: “Palliative Care,” “Peripheral neuropathy.”
Current Problems in Cancer: “Palliative care and symptom management in amyloidosis: A review.”
