Table of ContentsView AllTable of ContentsStatisticsInfluencing FactorsRole of Treatment
Table of ContentsView All
View All
Table of Contents
Statistics
Influencing Factors
Role of Treatment
With hATTR amyloidosis, variants change the TTR structure so that it clusters asamyloiddeposits (proteins) in certain tissues. The disease commonly affects the nerves and heart. Over time, hATTR often becomes more severe and causes more extreme damage.
While hATTR amyloidosis is viewed as a progressive and fatal disease when untreated, many factors impact its effects and outcomes. Finding the disease early can help you starttreatmentto delay how fast the disease progresses.
This article describes hATTR amyloidosis, its prognosis, factors that affect its progress, and treatments.
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Statistical Prognosis of hATTR Amyloidosis
The rare disease hATTR amyloidosis affects your entire system. While it’s common in certain parts of Portugal, Brazil, Sweden, and Japan, it is less common in the United States. About 6,400 Americans have been diagnosed with hATTR.
In the United States, hATTR amyloidosis is most common among Americans of European descent. It affects about 1 in 100,000 people in this group. However, its exact incidence is unknown because it is considered significantly misdiagnosed.
The condition hATTR amyloidosis is inherited in an autosomal dominant manner. If one of your parents is affected or known to have the TTR variant, you have a 50% chance of inheriting the mutation. While most people who inherit the TTR mutation develop hATTR amyloidosis, some may never have the disease.
Most people affected with hATTR amyloidosis present withpolyneuropathy(simultaneous damage to many nerves in different parts of your body). Cardiac, ocular, and kidney damage is also common.Cardiomyopathy(adisease affecting the heart muscle) can be identified in at least 50% of people with hATTR amyloidosis.
Since the clinical presentation and course of hATTR amyloidosis vary widely, data regarding the average prognosis (probable course of the disease) is also variable. Research indicates that the disease leads to death in an average of six to 12 years afterdiagnosis.
However, onset and survival vary widely based on the genetic mutation and the disease phenotype (hATTRcardiac amyloidosis, hATTR amyloidosis polyneuropathy, or combined). Death is often related to cardiac issues.
It’s important to note that some data on the prognosis of hATTR amyloidosis may not have been based on the effects of very recent advances in disease treatment. Depending on individual disease factors, new and forthcoming treatments may impact your prognosis and help extend your life span.
Understanding Life Expectancy
Factors Influencing hATTR Amyloidosis Prognosis
Several factors can influence your hATTR amyloidosis prognosis. Disease progression can be unpredictable even among members of the same family. The following factors can impact your prognosis:
Learning to Live With hATTR Amyloidosis
Type of Mutation
There are more than 120 mutations known to cause hATTR amyloidosis that are passed from parents to children. The most common variants in the United States include:
Origin of the Inherited Mutation
The sex assigned at birth of the parent from whom the mutation is inherited seems to impact the age of onset for hATTR amyloidosis.
The signs and symptoms of hATTR amyloidosis occur more severely and at an earlier age as the disorder is passed from one generation to the next, a phenomenon called anticipation when the TRR mutation is passed from mother to son. However, inheritance from father to daughter protects female offspring from this.
Diagnosis and Genetic Testing for hATTR Amyloidosis
Age of Onset
The age of onset can influence the clinical course and type of hATTR amyloidosis.
Early-onset disease (occurring before age 50) usually involves the following:
In late-onset disease (age 50 or older), disease progression is usually more rapid and severe. It typically involves the following:
Types of Amyloidosis Symptoms
Role of hATTR Amyloidosis Treatment in Prognosis
Treatment strategies for hATTR amyloidosis can relieve symptoms. They can also manage the impact of the illness affecting your heart, nervous system, and kidneys based on the conditions that occur.
Current treatments for hATTR amyloidosis involve the following:
Disease-Modifying Therapies
The following therapies work to prevent the production of TTR protein. People using the following treatments experience slowed disease progression and significant improvement in quality of life and neuropathic symptoms:
Off-Label and Alternative Treatments
The following drugs or treatments were originally created and approved for the treatment of other conditions and then found to have benefits for people with hATTR amyloidosis (called off-label use). These treatments include the following:
Summary
A diagnosis of hATTR amyloidosis can have a profound physical and emotional impact. Symptoms can impact your quality of life, such as problems with moving, walking, and freely using your upper limbs. It can also affect your mental health, making you feel low and alone.
Early diagnosis can help you take advantage of early treatments that can slow disease progression. It is also easier to control and relieve symptoms of pain before your disease worsens.
If just one parent has an hATTR amyloidosis mutation, contact your healthcare provider to discuss your disease risk. Genetic testing can help define your risk so you can track changes that may be early signs of the disease.
7 SourcesVerywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.MedlinePlus.Transthyretin amyloidosis.Griffin JM, Rosenthal JL, Grodin JL, Maurer MS, Grogan M, Cheng RK.ATTR amyloidosis: current and emerging management strategies:JACC: CardioOncologystate-of-the-art review.JACC CardioOncol. 2021;3(4):488-505. doi:10.1016/j.jaccao.2021.06.006Conceição I, Damy T, Romero M, et al.Early diagnosis of ATTR amyloidosis through targeted follow-up of identified carriers ofTTRgene mutations*.Amyloid. 2019;26(1):3-9. doi:10.1080/13506129.2018.1556156Amyloidosis Research Consortium (ARC).Hereditary Transthyretin Amyloidosis.Luigetti M, Romano A, Di Paolantonio A, Bisogni G, Sabatelli M.Diagnosis and treatment of hereditary transthyretin amyloidosis (Hattr) polyneuropathy: current perspectives on improving patient care.Ther Clin Risk Manag. 2020;16:109-123. doi:10.2147/TCRM.S219979Adams D, Ando Y, Beirão JM, et al.Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy.J Neurol. 2021;268(6):2109-2122. doi:10.1007/s00415-019-09688-0Lovley A, Raymond K, Guthrie SD, Pollock M, Sanchorawala V, White MK.Patient-reported burden of hereditary transthyretin amyloidosis on functioning and well-being.J Patient Rep Outcomes. 2021;5:3. doi:10.1186/s41687-020-00273-y
7 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.MedlinePlus.Transthyretin amyloidosis.Griffin JM, Rosenthal JL, Grodin JL, Maurer MS, Grogan M, Cheng RK.ATTR amyloidosis: current and emerging management strategies:JACC: CardioOncologystate-of-the-art review.JACC CardioOncol. 2021;3(4):488-505. doi:10.1016/j.jaccao.2021.06.006Conceição I, Damy T, Romero M, et al.Early diagnosis of ATTR amyloidosis through targeted follow-up of identified carriers ofTTRgene mutations*.Amyloid. 2019;26(1):3-9. doi:10.1080/13506129.2018.1556156Amyloidosis Research Consortium (ARC).Hereditary Transthyretin Amyloidosis.Luigetti M, Romano A, Di Paolantonio A, Bisogni G, Sabatelli M.Diagnosis and treatment of hereditary transthyretin amyloidosis (Hattr) polyneuropathy: current perspectives on improving patient care.Ther Clin Risk Manag. 2020;16:109-123. doi:10.2147/TCRM.S219979Adams D, Ando Y, Beirão JM, et al.Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy.J Neurol. 2021;268(6):2109-2122. doi:10.1007/s00415-019-09688-0Lovley A, Raymond K, Guthrie SD, Pollock M, Sanchorawala V, White MK.Patient-reported burden of hereditary transthyretin amyloidosis on functioning and well-being.J Patient Rep Outcomes. 2021;5:3. doi:10.1186/s41687-020-00273-y
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
MedlinePlus.Transthyretin amyloidosis.Griffin JM, Rosenthal JL, Grodin JL, Maurer MS, Grogan M, Cheng RK.ATTR amyloidosis: current and emerging management strategies:JACC: CardioOncologystate-of-the-art review.JACC CardioOncol. 2021;3(4):488-505. doi:10.1016/j.jaccao.2021.06.006Conceição I, Damy T, Romero M, et al.Early diagnosis of ATTR amyloidosis through targeted follow-up of identified carriers ofTTRgene mutations*.Amyloid. 2019;26(1):3-9. doi:10.1080/13506129.2018.1556156Amyloidosis Research Consortium (ARC).Hereditary Transthyretin Amyloidosis.Luigetti M, Romano A, Di Paolantonio A, Bisogni G, Sabatelli M.Diagnosis and treatment of hereditary transthyretin amyloidosis (Hattr) polyneuropathy: current perspectives on improving patient care.Ther Clin Risk Manag. 2020;16:109-123. doi:10.2147/TCRM.S219979Adams D, Ando Y, Beirão JM, et al.Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy.J Neurol. 2021;268(6):2109-2122. doi:10.1007/s00415-019-09688-0Lovley A, Raymond K, Guthrie SD, Pollock M, Sanchorawala V, White MK.Patient-reported burden of hereditary transthyretin amyloidosis on functioning and well-being.J Patient Rep Outcomes. 2021;5:3. doi:10.1186/s41687-020-00273-y
MedlinePlus.Transthyretin amyloidosis.
Griffin JM, Rosenthal JL, Grodin JL, Maurer MS, Grogan M, Cheng RK.ATTR amyloidosis: current and emerging management strategies:JACC: CardioOncologystate-of-the-art review.JACC CardioOncol. 2021;3(4):488-505. doi:10.1016/j.jaccao.2021.06.006
Conceição I, Damy T, Romero M, et al.Early diagnosis of ATTR amyloidosis through targeted follow-up of identified carriers ofTTRgene mutations*.Amyloid. 2019;26(1):3-9. doi:10.1080/13506129.2018.1556156
Amyloidosis Research Consortium (ARC).Hereditary Transthyretin Amyloidosis.
Luigetti M, Romano A, Di Paolantonio A, Bisogni G, Sabatelli M.Diagnosis and treatment of hereditary transthyretin amyloidosis (Hattr) polyneuropathy: current perspectives on improving patient care.Ther Clin Risk Manag. 2020;16:109-123. doi:10.2147/TCRM.S219979
Adams D, Ando Y, Beirão JM, et al.Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy.J Neurol. 2021;268(6):2109-2122. doi:10.1007/s00415-019-09688-0
Lovley A, Raymond K, Guthrie SD, Pollock M, Sanchorawala V, White MK.Patient-reported burden of hereditary transthyretin amyloidosis on functioning and well-being.J Patient Rep Outcomes. 2021;5:3. doi:10.1186/s41687-020-00273-y
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