The damaged gene changes the shape and function of TTR.
When normal, TTR transportsthyroid hormoneandvitamin Athrough your body.
Damaged TTR will likely cluster and form toxic amyloid deposits in your nerves, heart, and other tissue.
Thai Liang Lim / Getty Images
This form of the disease mainly affects your sensory functions that involve touch, pressure, and pain.
Having hATTR-PN can make it hard to move and perform daily tasks.
This article explains the symptoms, risks, and complications of this disease.
It also includes treatments, disease outcomes, and ways to cope.
The disease onset and presentation are typically progressive, devastating, and life-threatening.
Symptoms of this rare disease can be highly varied based on the specific mutation that develops.
There are more than 120 mutations in the TTR gene.
One of the most common variations is hATTR amyloidosis with polyneuropathy.
Most people have a combination of both heart and nerve involvement.
The Val30Met mutation is the most common TTR mutation worldwide, accounting for about half of TTR variants globally.
It is typically associated with polyneuropathy.
However, novel therapies have improved disease outcomes since then.
Newer treatments are most effective during the early stages of the disease.
They have successfully lowered TTR levels, reduced neuropathic symptoms, and improved quality of life.
Some treatments may also help slow disease progression.
Until the recent approval of pharmacotherapies for hATTR amyloidosis, liver transplantation was the only available treatment.
It is most effective for people with early-onset hATTR amyloidosis with polyneuropathy.
However, liver transplantation is costly and of high risk.
With the introduction of pharmacotherapies for hATTR amyloidosis with polyneuropathy, liver transplantation is rarely a first-level treatment.
However, recently approved treatments are changing the natural history of this progressive disorder.
Early diagnosis can lead to earlier treatment with therapies that show improved outcomes.
It pops up if a damaged gene changes the space and function of the protein transthyretin.
The change causes the gene to misfold and form clusters of amyloid deposits that damage your nerves.
The impact of hATTR-PN can be severe as symptoms of pain and numbness prevent you from doing daily tasks.
Without treatment, nerve damage can progress to the degree that you need a wheelchair.
However, early diagnosis is key to getting better outcomes for this disease.
Novel treatments can reduce symptoms, improve quality of life, and slow disease progression for many people.
Know your risk factors for hATTR-PN so you’re free to get an early diagnosis.
This can help you and your family improve your outcomes with this severe disease.
2022;15:8677-8684. doi:10.7861/clinmedicine.18-2-s30
Amyloidosis Research Consortium.Hereditary transthyretin amyloidosis.
Amyloidosis Research Consortium.Hereditary ATTR amyloidosis.
Amyloidosis Research Consortium.Disease overview: hereditary transthyretin amyloidosis.
Amyloidosis Research Consortium.Treatment overview: hereditary transthyretin amyloidosis.
2015;99(9):1847-1854. doi:10.1097/TP.0000000000000574
Zivkovic SA.Neuropathy associated with hereditary transthyretin amyloidosisdiagnosis and management.US Neurology.
2021;10(2):753-766. doi:10.1007/s40120-021-00258-z
Amyloidosis Research Consortium.Neuropathy in amyloidosis.
