Amyloidosis is a rare but serious disease. It is caused by amyloid protein deposits that accumulate in the tissues and organs, causing damage and eventually leading to organ failure.

Amyloidosis can affect any organ in the body, including the heart, kidneys, liver, and nervous system. There are several types of amyloidosis, but one type that has been recently gaining attention is amyloidosis by transthyretin (ATTR).

What is Amyloidosis by Transthyretin?

ATTR amyloidosis is a rare genetic disorder that is caused by mutations in the transthyretin (TTR) gene. This gene codes for a protein called transthyretin, which serves as a carrier for thyroid hormone and vitamin A in the blood.

Mutations in the TTR gene can cause the protein to misfold and form amyloid deposits in the organs and tissues.

The deposition of amyloid protein in the organs and tissues can cause significant damage and ultimately lead to organ failure. The most commonly affected organs in ATTR amyloidosis are the heart and nervous system, but any organ can be affected.

Symptoms of ATTR amyloidosis can include shortness of breath, palpitations, fatigue, weakness, numbness, tingling, and difficulty with balance and coordination.

Prevalence of ATTR Amyloidosis

ATTR amyloidosis was once considered a rare disease, but recent research suggests that it may be more prevalent than previously thought.

The prevalence of ATTR amyloidosis varies by population and region, but several studies have estimated a prevalence of up to 1 in 1,000 individuals in certain populations.

Studies have also shown that ATTR amyloidosis is often misdiagnosed or undiagnosed, as the symptoms can be vague and mimic other more common diseases.

This can lead to delayed diagnosis and treatment, which can further worsen the prognosis for patients.

Diagnosis of ATTR Amyloidosis

Diagnosis of ATTR amyloidosis typically involves a combination of tests and procedures, including:.

A medical history and physical examination
Blood tests to check for abnormal protein levels
Imaging tests such as echocardiography, magnetic resonance imaging (MRI), or computed tomography (CT) scans
A biopsy of affected tissue to look for the presence of amyloid deposits
Genetic testing to look for mutations in the TTR gene

Treatment of ATTR Amyloidosis

Treatment of ATTR amyloidosis varies depending on the severity and progression of the disease. There are currently two drugs that have been approved by the U.S.

Food and Drug Administration (FDA) for the treatment of ATTR amyloidosis: tafamidis and patisiran. These drugs work by stabilizing the transthyretin protein and preventing it from misfolding and forming amyloid deposits in the organs and tissues.

Other treatments for ATTR amyloidosis may include supportive care to manage symptoms and complications, such as heart failure or peripheral neuropathy. In severe cases, organ transplantation may be necessary.

Conclusion

ATTR amyloidosis is a rare genetic disorder that is caused by mutations in the transthyretin gene. It is characterized by the deposition of amyloid protein in the organs and tissues, which can lead to significant damage and ultimately organ failure.

While once considered a rare disease, recent research suggests that it may be more prevalent than previously thought. However, it is often misdiagnosed or undiagnosed, which can lead to delayed diagnosis and treatment.

Treatment options for ATTR amyloidosis include two drugs that have been approved by the FDA: patisiran and tafamidis, as well as supportive care and organ transplantation in severe cases.