Amyloidosis is a rare disorder that occurs when there’s a buildup of amyloid proteins in the body. These proteins can build up in the blood vessels, bones, and major organs, leading to a wide range of complications.
This complex condition isn’t curable, but it can be managed through treatments. Diagnosis and treatment can be challenging because the symptoms and causes vary between different types of amyloidosis. The symptoms may also take a long time to manifest.
Read on to learn about one of the most common types: amyloid transthyretin (ATTR) amyloidosis.
ATTR amyloidosis is related to the abnormal production and buildup of a type of amyloid called transthyretin (TTR).
Your body is meant to have a natural amount of TTR, which is primarily made by the liver. When it enters the bloodstream, TTR helps transport thyroid hormones and vitamin A throughout the body.
Another type of TTR is made in the brain. It’s responsible for making cerebrospinal fluid.
ATTR is one type of amyloidosis, but there are also subtypes of ATTR.
Hereditary, or familial ATTR (hATTR or ARRTm), runs in families. On the other hand, acquired (non-hereditary) ATTR is known as “wild-type” ATTR (ATTRwt).
ATTRwt is commonly associated with aging, but not necessarily with other neurological diseases.
The symptoms of ATTR vary, but may include:
- weakness, especially in your legs
- leg and ankle swelling
- extreme fatigue
- heart palpitations
- weight loss
- bowel and urinary problems
- low libido
- carpal tunnel syndrome
People with ATTR amyloidosis are also more prone to heart disease, especially with wild-type ATTR. You might notice additional heart-related symptoms, such as:
- chest pain
- irregular or rapid heartbeat
- shortness of breath
Diagnosing ATTR can be challenging at first, especially since many of its symptoms mimic other diseases. But if someone in your family has a history of ATTR amyloidosis, this should help direct your doctor to test for hereditary types of amyloidosis. In addition to your symptoms and personal health history, your doctor may order genetic testing.
Wild types of ATTR can be a bit more difficult to diagnose. One reason is because the symptoms are similar to congestive heart failure.
If ATTR is suspected and you don’t have a family history of the disease, your doctor will need to detect the presence of amyloids in your body.
One way of doing this is through a nuclear scintigraphy scan. This scan looks for TTR deposits in your bones. A blood test can also determine if there are deposits in the bloodstream. Another way to diagnose this type of ATTR is by taking a small sample (biopsy) of heart tissue.
There are two goals for ATTR amyloidosis treatment: stop disease progression by limiting TTR deposits, and minimize the effects that ATTR has on your body.
Since ATTR primarily affects the heart, treatments for the disease tend to focus on this area first. Your doctor may prescribe diuretics to reduce swelling, as well as blood thinners.
While the symptoms of ATTR often mimic those of heart disease, people with this condition can’t easily take medications that are intended for congestive heart failure.
These include calcium channel blockers, beta-blockers, and ACE inhibitors. In fact, these medications can be harmful. This is one of the many reasons why a proper diagnosis is important from the start.
A heart transplant may be recommended for severe cases of ATTRwt. This is especially the case if you have a lot of heart damage.
With hereditary cases, a liver transplant can help stop the buildup of TTR. However, this is only helpful in early diagnoses. Your doctor may also consider genetic therapies.
While there’s no cure or simple treatment, many new medications are currently in clinical trials, and treatment advances are on the horizon. Talk to your doctor to see if a clinical trial is right for you.
As with other types of amyloidosis, there’s no cure for ATTR. Treatment can help reduce disease progression, while symptom management can improve your overall quality of life.
hATTR amyloidosis has a better prognosis compared to other types of amyloidosis because it progresses more slowly.
Like any health condition, the earlier you get tested and diagnosed for ATTR, the better the overall outlook. Researchers are continuously learning more about this condition, so in the future, there will be even better outcomes for both subtypes.