Hereditary transthyretin (hATTR)amyloidosisis a rare disease that runs in families.
It is triggered by the buildup of toxic proteins called amyloid fibrils throughout the body.
The amyloid fibrils damage tissues and organs, causing symptoms that worsen over time.
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The most common sites of amyloid buildup in hATTR amyloidosis are nerves and the heart.
Other targeted areas include the stomach, intestines, eyes,kidneys, brain, and spinal cord.
This article reviews the symptoms and signs of hATTR amyloidosis.
Early recognition of this incurable disease is crucial to preventing or delaying disease progression and potentially life-threatening complications.
The mutated TTR gene codes for unstable, misshapen proteins that clump together as amyloid fibrils in the body.
Over 130 TTR gene mutations linked to hATTR amyloidosis have been identified.
What Is the Life Expectancy of hATTR Amyloidosis?
Left untreated, the average life expectancy of hATTR amyloidosis is seven to 10 years after symptom onset.
In some cases, finger and hand muscle weakness develops.
The kidneys perform numerous functions, such as removing waste products from the body and maintainingelectrolyteand fluid balances.
At this point,dialysisis required to filter a person’s blood.
Interestingly, the accumulation of amyloid fibrils tends to appear in a distinct pattern.
The peripheral nervous system and heart are the most commonly affected organs.
Heart-related symptoms include trouble breathing, swelling of the ankles and lower legs, dizziness, and fainting.
Hereditary ATTR amyloidosis is a rare, albeit disabling, life-threatening condition.
If the diagnosis is suspected, ask for a referral to a medical center that specializes in managing amyloidosis.
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