This article reviews the role of genetics in developing hATTR amyloidosis.
An overview of the symptoms,diagnosis,treatment, and outlook of hATTR amyloidosis will also be discussed.
A child inherits half of their genes from one biological parent and half from the other.
Luis Alvarez / Getty Images
Most genes code for proteins, which are molecules that carry out vital functions in the body.
Hereditary ATTR amyloidosis is resulting from inheriting a mutated transthyretin gene, which produces an unstable, misshapen protein.
Currently, over 130 TTR gene mutations are linked to hereditary ATTR amyloidosis.
Symptoms and disease impact vary depending on the TTR gene mutation inherited.
The protein buildup damages the organs, interfering with their normal functioning.
The most common sites of amyloid deposition are theperipheral nervous systemand the heart.
Other organs, namely the gut, kidneys, eyes, and brain, may also be involved.
Restrictive cardiomyopathystiffening of the heart due to amyloid fibrils infiltrating the heart muscleis also common in hereditary amyloidosis.
First,urine and/or blood testsare often ordered to check for amyloid protein.
Next, anabdominal fat pad biopsyis usually performed to confirm the presence of amyloid deposits.
The tissue sample is sent to a laboratory where a Congo red stain is applied to identify amyloid material.
Imaging or other diagnostic testsmay also support the diagnosis of hATTR amyloidosis and evaluate for specific organ involvement.
Overall, identifying the exact TTR gene mutation is crucial in helping healthcare providers devise an individualized treatment plan.
Another TTR stabilizeracoramidisis currently being studied for the treatment of hATTR amyloidosis-related heart and nerve disease.
The cells of the new liver have the donor’s genetic makeup without the mutated gene.
A liver transplant is a significant undertaking, and studies of its benefits are mixed.
In some cases, depending on the organ involved, surgery might be considered.
The antibodies target pre-existing amyloid deposits, potentially allowing for the recovery of the involved organ.
The mutated TTR gene leads to abnormal transthyretin proteins (amyloid fibrils) building up within various organs.
Other organs like the gut, kidney, eye, and brain can also be affected by hATTR amyloidosis.
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