What causes ATTR amyloidosis?

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asked 22 hours ago in Diseases Conditions by Pappenheim (740 points)
What causes ATTR amyloidosis?

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answered 21 hours ago by Adf289 (65,910 points)
The cause of ATTR amyloidosis depends on the type of ATTR amyloidosis.

The cause hATTR hereditary (hATTR) is a mutation in the TTR gene that is passed down families and is common in people of Irish, African, Japanese, Swedish and Portuguese descent.

The cause of Wild Type or (wtATTR) is an unknown genetic cause, that often affects older men and it typically presents in the heart also known as cardiomyopathy or nerves which is known as carpal tunnel syndrome.

ATTR amyloidosis is also known as, "Transthyretin Amyloidosis" is a serious, progressive disease where misfolded transthyretin protein builds up as amyloid fibrils in organs like the heart, nerves, kidneys, and gut, causing dysfunction and failure, stemming from either a genetic mutation (hereditary ATTR) or occurring spontaneously (wild-type ATTR) in older adults, leading to heart failure, neuropathy, and fatigue.

Early diagnoses is key in treatment and slowing the progression of ATTR amyloidosis through use of medication like tafamidis managing the symptoms like arrhythmias and fluid retention.

The new treatment for transthyretin amyloidosis (ATTR), is vutrisiran (AMVUTTRA) which is a new gene-silencing therapy that has gained approval for ATTR-CM.

And acoraminidis is a stabilizer drug that is also approved for ATTR-CM amyloidosis.

Other emerging therapies for amyloidosis are protea-some inhibitors and a new class of drugs which target and remove amyloid fibrils themselves.

Amyloidosis does shorten lifespan, although the degree to which amyloidosis shortens your lifespan will vary significantly depending on the organs affected and the type of amyloidosis and whether or not the amyloidosis is treated or not.

For some people types of amyloidosis like AL amyloidosis, the average life expectancy 18 months or less after diagnoses or after getting the AL amyloidosis.

Although due to modern treatments, the survival time with AL amyloidosis and other amyloidosis has increased several years.

Although in some cases life expectancy with amyloidosis including AL amyloidosis can be as short as 6 months, although early treatment and effective treatment for amyloidosis can help you live for several years or even a decade or longer.

The specific type of amyloidosis such as AL, ATTR or AA amyloidosis has a major impact on the prognosis and lifespan of someone with amyloidosis.

The amyloidosis condition can also affect different organs and the prognosis is also worse when any critical organs like the kidneys or heart are severely involved with amyloidosis.

And early diagnosis and treatment for amyloidosis is also critical to improve lifespan with amyloidosis, as later stage amyloidosis is harder to treat and has a poorer outlook.

Modern therapies can improve lifespan with amyloidosis significantly.

Studies have also shown that long term treatments for hereditary ATTR amyloidosis can also extend your lifespan by several years.

Without treatment though, amyloidosis can result in death within 6 months or less.

With modern treatment though for amyloidosis, some people have lived several years and even up to 10 years or even more with amyloidosis.

The average life expectancy or lifespan with hereditary amyloidosis is 7 years to 12 years, after diagnosis, but it can vary depending on the specific genetic mutation and treatment.

Wild type amyloidosis generally has a shorter lifespan, with an average lifespan of 4 years to 5 years and often develops later in life.

In advanced stages of amyloidosis, survival and lifespan is limited, but with early treatment many people can still live more than 10 years after diagnosis.

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