If you have a long-term, or chronic, condition like hereditary ATTR amyloidosis, you need a large team of doctors and healthcare professionals to help you manage it. This is especially true for people with hATTR amyloidosis. This is a genetic condition. What happens is that an abnormal protein called amyloid builds up in vital organs like your heart, kidneys, nervous system, and intestines. So, because this condition affects so many parts of your body, your hATTR healthcare team will include several specialists.
Who is on your hATTR amyloidosis medical team?
Let's now look at the key medical professionals who will help you with your healthcare. Together, they will help you best manage your condition.
Neurologist
In hATTR, a condition called peripheral neuropathy is very common. Simply put, this is damage to the nerves in your hands, feet, and lower legs. You may experience symptoms like these:
As the disease progresses, your muscles may become stiff and weak, making it difficult to walk and do anything that requires fine motor skills.
A neurologist will perform tests, such as a nerve conduction test, to closely monitor your peripheral nerve function. This will help determine if you have a neurological condition and how severe it is.
Many of the treatments approved for hATTR can also help treat your neurological condition. Your doctor may also prescribe other medications to help with nerve pain.
| Drug category | Examples of drugs |
|---|---|
| Approved treatments for hATTR | Eplontersen (Wainua), Inotersen (Tegsedi), Patisiran (Onpattro), Vutrisiran (Amvuttra) |
| Medications for nerve pain | Amitriptyline, Duloxetine (Cymbalta), Gabapentin (Neurontin), Pregabalin (Lyrica) |
Cardiologist
This doctor treats diseases of the heart and blood vessels. People with hATTR are at increased risk of heart disease. This is because amyloid deposits can build up in the heart. This can lead to the following conditions:
The most important thing is to be aware of these symptoms and seek medical advice as soon as possible if necessary.
| Possible effects on the heart | Simple explanation |
|---|---|
| Congestive Heart Failure | The heart weakens and fluid accumulates in the lungs and other tissues. |
| Hypertrophic Cardiomyopathy | Thickening of the heart muscle. |
| Coronary Heart Disease | Blockage of the blood vessels supplying the heart. |
| Arrhythmia | Irregular heartbeat. |
| Syncope | Dizziness or fainting. |
If you are diagnosed with hATTR, your cardiologist will do several tests to see how well your heart is working. These may include an echocardiogram , an MRI scan, a 6-minute walk test, and blood tests. If your heart is weak, you will be given medications to manage the condition, such as diuretics, salt and fluid restrictions, and possibly a pacemaker .
Ophthalmologist
If you have hATTR, it's important to see an eye specialist regularly. About 20% of the genetic mutations that cause hATTR affect the eyes. This can cause symptoms such as:
- Dark floaters (seeing black dots floating in front of the eyes)
- Dry eyes
- Glaucoma or increased eye pressure
- Vitreous opacity (clouding of the clear gel that fills the eyeball)
- Other vision changes
If necessary, your eye doctor may perform a surgery called a trabeculectomy to treat glaucoma. He or she may also perform a surgery called a vitrectomy to remove the gel from the eye.
Genetic Counselor
If your doctor suspects that you have hATTR, he or she will refer you to a genetic counselor . They can test for the gene mutation that may cause the disease. Also, if someone in your immediate family (parent, sibling, or child) has been diagnosed with hATTR, you should definitely get tested. This is because close family members have a 50% chance of inheriting this gene mutation. The genetic counselor will explain these tests to you and discuss them with you once the results are in.
Other important members of your medical team
In addition to the specialists mentioned above, several others play an important role in your well-being.
| Professional | How can they help you? |
|---|---|
| Nephrologist | About a third of people with hATTR may develop amyloid deposits in their kidneys. You may not need to see this specialist until you have symptoms of kidney disease. Your primary care doctor will check your kidney function with annual blood tests (such as serum creatinine ). If these tests are abnormal, you will be referred to a nephrologist. |
| Orthopedic Specialist | Patients with hATTR are at increased risk of developing carpal tunnel syndrome . This can be caused by amyloid deposits in the wrists. Wrist splints and exercises may be recommended while sleeping. In severe cases, surgery may be necessary. |
| Physical/Occupational Therapist | hATTR can make it difficult to walk and perform daily activities. Physical therapists and occupational therapists can help you make these tasks easier. Studies have shown that combining these therapies with other treatments, such as medications, can produce good results. |
| Primary Care Provider | Even if you see multiple specialists, your family doctor or primary care doctor is an essential part of your team. He or she can do your annual health checkups, treat you when you're sick, and act as the "leader" of your healthcare team, communicating with all the other doctors. |
Often, you will be able to get all the services you need at a medical center or large hospital that specializes in treating hATTR amyloidosis. This makes it easier for all of your doctors to work together as a team. Talk to your primary care doctor about coordinating your treatment.
Take-Home Message
- hATTR amyloidosis is a complex disease that affects multiple organs in the body, so it requires a team of doctors with different expertise to treat it.
- Your medical team may include specialists in areas such as neurology, cardiology, ophthalmology, and nephrology.
- Your primary care physician (family doctor) is the key link that coordinates this entire team.
- Talk openly with your medical team about your condition, treatment, and any concerns you may have. Don't be afraid to ask questions. You are an active member of your healthcare team.
💬 අදහස් (0)
තවමත් කිසිදු අදහසක් පළ කර නොමැත. ඔබේ අදහස පළමු වරට මෙහි එක් කරන්න.
ඔබේ අදහස එක් කරන්න