When you have a chronic disease, it takes a village of medical professionals to help you manage and cope with different aspects. This is especially true for people who have hATTR amyloidosis. This condition is inherited and leads to a buildup of abnormal proteins called amyloids in organs like your heart, kidneys, nervous system, and GI tract. Since it affects so many body parts, your hATTR health care team will involve several specialists.
Who’s on Your hATTR Amyloidosis Care Team?
Here’s a look at some of the key medical professionals who will help with your care:
Neurologist. With hATTR, it’s very common to have peripheral neuropathy, or damage to the nerves in your hands, feet, and lower legs. You may also have symptoms such as pain, numbness, tingling, weakness, or burning. As the disease progresses, your muscles may stiffen and weaken. This makes it hard to walk and do anything that involves your fine motor skills.
A neurologist will do tests, such as a nerve conduction test, to look closely at your peripheral nerve function. It’ll help them figure out if you have peripheral neuropathy, and how severe it is.
Many of the treatments approved for hATTR will also help to treat your neuropathy. These include:
- Eplontersen (Wainua)
- Inotersen (Tegsedi)
- Patisiran (Onpattro)
- Vutrisiran (Amvuttra)
Your neurologist may also prescribe other drugs to help with neuropathic pain. These include:
- Amitriptyline (Elavil)
- Duloxetine (Cymbalta)
- Gabapentin (Neurontin)
- Pregabalin (Lyrica)
Cardiologist. This doctor treats and prevents diseases of the heart and blood vessels. People with hATTR are more likely to have heart problems because amyloid deposits can build up in the heart. This can cause:
- Congestive heart failure, or heart weakness that causes fluid to build up in the lungs and other tissues
- Hypertrophic cardiomyopathy, or heart muscle thickening
- Coronary heart disease
- Arrhythmia, or irregular heartbeat
- Syncope, or fainting
If you are diagnosed with hATTR, your cardiologist will want to run tests to see how well your heart functions. These may include:
- Echocardiogram to check your heart’s structure and function
- Cardiac imaging tests such as an MRI
- 6-minute walk test
- Blood tests
If you’ve developed heart failure, your cardiologist will try to manage it with treatments such as diuretics, salt and fluid restriction, cardiac rehabilitation, and possibly a pacemaker.
Eye doctor (ophthalmologist). If you have hATTR, it’s very important you have regular appointments with an eye specialist. About 20% of TTR gene mutations affect the eyes. This can cause symptoms like:
- Dark floaters (spots in your vision)
- Dry eyes
- Glaucoma, or increased eye pressure
- Vitreous opacity, or cloudiness in the clear gel that fills your eyeball
- Other vision changes
If necessary, your eye doctor can do a trabeculectomy, which is surgery to treat your glaucoma. They may also do a vitrectomy, surgery to remove your eye gel.
Genetic counselor. If your doctor suspects that you have hATTR, they’ll refer you to a genetic counselor so they can look for the gene variant that can cause this disease. You also should get tested if you have a close family member (a parent, sibling, or child) who was diagnosed with hATTR. Immediate family members have a 50% chance of also inheriting the gene variant.
Your genetic counselor will explain testing to you. They’ll then meet with you to go over your results.
Nephrologist (kidney specialist). This doctor treats kidney disease. Up to a third of people with hATTR have amyloid deposits in their kidneys. These can damage the organs and lead to kidney disease.
You don’t need to see a nephrologist unless you start to show signs of kidney disease. Your primary care doctor or neurologist may check your kidney function each year with blood tests such as serum creatinine. They may also use your serum creatinine test, age, and sex to calculate your glomerular filtration rate (GFR). If any of these tests are abnormal, you may need to see a nephrologist.
Orthopedic specialist. People with hATTR are also more likely to get carpal tunnel syndrome. This is because amyloid deposits can happen in both wrists. An orthopedic specialist may recommend wrist splints, especially while you sleep. They might also suggest exercises to keep the nerves in your wrists mobile. More severe cases may require surgery.
Physical or occupational therapists. hATTR can affect your ability to walk and do activities involved in your daily life. You may need either physical or occupational therapy. A 2023 study found that occupational therapy had a positive impact when it was combined with other treatments, like medications.
Primary care provider. Even though you see many different specialists, you still need a primary care doctor on your care team. They can perform an annual wellness exam, take care of you when you’re sick, and even serve as the “quarterback” of your health care team by communicating with all of your other doctors.
Oftentimes, you may be able to get all or most of your care at a medical center that specializes in treating hATTR amyloidosis. This makes it easier for all your doctors to work as a team. If you need help finding a center, go to Treatment Centers & Clinical Trials - Amyloidosis Research Consortium (arci.org).
