ATTR

ATTR amyloidosis is a protein misfolding disease that is characterized by the deposition of transthyretin (TTR) in various tissues and organs. This can lead to a variety of symptoms, including neuropathy, cardiomyopathy, and gastrointestinal issues. The disease can be either hereditary (hATTR) or non-hereditary (wtATTR).

Etiology

ATTR amyloidosis is caused by the misfolding of the TTR protein, which is primarily produced in the liver. In hATTR, this is due to a mutation in the TTR gene, while in wtATTR, the cause is unknown. The misfolded TTR proteins aggregate and form amyloid deposits in various tissues and organs, leading to the symptoms of the disease.

Symptoms

The symptoms of ATTR amyloidosis can vary widely depending on the location of the amyloid deposits. Common symptoms include neuropathy, cardiomyopathy, and gastrointestinal issues. Other symptoms can include carpal tunnel syndrome, kidney disease, and eye abnormalities.

Diagnosis

Diagnosis of ATTR amyloidosis can be challenging due to the wide range of symptoms and the rarity of the disease. It often involves a combination of blood tests, urine tests, biopsy, and imaging studies. Genetic testing can also be used to confirm a diagnosis of hATTR.

Treatment

Treatment for ATTR amyloidosis is aimed at reducing the production of the TTR protein and managing symptoms. This can include medication, liver transplant, and symptomatic treatment.

See also

• Amyloidosis
• Protein misfolding disease
• Transthyretin

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