Table of ContentsView AllTable of ContentsHow It Affects the BodyNeurological SymptomsHeart-Related SymptomsDigestive System SymptomsEye-Related SymptomsKidney SymptomsHead and CNS SymptomsOther SymptomsNext in hATTR Amyloidosis GuideDiagnosis and Genetic Testing for hATTR Amyloidosis
Table of ContentsView All
View All
Table of Contents
How It Affects the Body
Neurological Symptoms
Heart-Related Symptoms
Digestive System Symptoms
Eye-Related Symptoms
Kidney Symptoms
Head and CNS Symptoms
Other Symptoms
Next in hATTR Amyloidosis Guide
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.
supersizer / Getty Images
How hATTR Amyloidosis Symptoms Affect the Body
Hereditary ATTR amyloidosis occurs when a person inherits a faulty ormutatedtransthyretin(TTR) gene from either of their biological parents.
The mutated TTR gene codes for unstable, misshapen proteins that clump together as amyloid fibrils in the body. The settling of amyloid fibrils within different organs prevents them from functioning normally, resulting in symptoms that develop in adulthood and worsen over time.
Over 130 TTR gene mutations linked to hATTR amyloidosis have been identified. Symptoms, the extent of amyloid buildup, age of onset, and disease progression vary depending on the inherited genetic mutation.
Unfortunately, these variations in clinical manifestations can delay the diagnosis of hATTR amyloidosis, sometimes as long as six years.Since current treatment options are most effective when taken in the early stages of the disease, a delayed diagnosis can negatively impact disease outcome (prognosis).
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.
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.
Early symptoms of hATTR amyloidosis classically stem from damage to theperipheral nervous system(PNS).
The PNS is a network of nerves that carry signals between the brain/spinal cord and the rest of the body. It consists of three types of nerves:
In hATTR amyloidosis,sensory symptomsinclude tingling and numbness (paresthesia), shooting or burning pain, and reduced sensitivity to heat. These symptoms are felt on both sides of the body and usually start in the toes and feet, progressing to the upper limbs over time.
Motor symptoms, namely muscle weakness and stiffness,begin in the feet and lower legs and progress to walking difficulties. As the disease advances, a person can develop a reliance on assistive devices such as a wheelchair or they are not able to leave their beds.
Common Early Manifestation: Bilateral Carpal Tunnel SyndromeCarpal tunnel syndromeis a peripheral nerve disease that affects the wrist’smedian nerve. Symptoms often involve both hands and include pain and tingling in the thumb and index, middle, and ring fingers. In some cases, finger and hand muscle weakness develops.
Common Early Manifestation: Bilateral Carpal Tunnel Syndrome
Carpal tunnel syndromeis a peripheral nerve disease that affects the wrist’smedian nerve. Symptoms often involve both hands and include pain and tingling in the thumb and index, middle, and ring fingers. In some cases, finger and hand muscle weakness develops.
Autonomic symptomsin hATTR amyloidosis include:
Amyloid deposition in the heart muscle in hATTR amyloidosis is called transthyretin amyloidosiscardiomyopathy. This condition causes the heart to stiffen and thicken, interfering with its ability to pump blood to the rest of the body.
Transthyretin amyloidosis cardiomyopathy often leads toheart failure, which, when advanced, carries a poor prognosis and can be fatal.
Symptoms and signs of heart failure in hATTR amyloidosis include:
Comprehensive Guide to Cardiac Amyloidosis
Stomach and Digestive System Symptoms
Stomach and bowel problems are relatively common in hATTR amyloidosis, affecting between 56% and 69% of individuals, depending on the inherited TTR gene mutation.
Other potential symptoms include:
It’s unclear, but experts suspect that amyloid-related damage to specific nerves, cells, and hormones responsible for gut motility and food absorption plays a role in leading to the above symptoms.
Complications of gut involvement in hATTR amyloidosis includemalnutrition, social isolation, and psychological distress for the person and their loved ones and caregivers.
Diagnosis and Genetic Testing for hATTR Amyloidosis
Eye-related manifestations are frequent in hATTR amyloidosis, can impair vision, and tend to increase with disease duration.
Eye manifestations and symptoms include:
Most people have two kidneys, located below their ribcage on either side of the spine. The kidneys perform numerous functions, such as removing waste products from the body and maintainingelectrolyteand fluid balances.
Chronickidneydisease(CKD) involves the gradual loss of kidney function and affects approximately 30% of people with hATTR amyloidosis.
Symptoms and signs of kidney damage and loss of function in hATTR amyloidosis include:
In addition, complications of CKD include weakened bones andanemia(low red blood cell count).
With hATTR amyloidosis, CKD can eventually progress toend-stage renal disease (ESRD), where the kidneys basically stop working. At this point,dialysisis required to filter a person’s blood.
Head and Central Nervous System Symptoms
The presence ofcentral nervous system(CNS) symptoms—those related to the brain and spinal cord—is increased in people with longstanding hATTR amyloidosis.
The most common CNS manifestation of hATTR amyloidosis is transient focal neurological events (TFNEs), which are recurrent episodes of primarily sensory or motor symptoms lasting 10 to 30 minutes.
A common TFNE symptom is paraesthesia in the hand or mouth, spreading to adjacent parts of the body.Other TFNE symptoms may be weakness of a body part, difficulty speaking, or visual disturbances.
Additional potential CNS symptoms include:
Other Associated Symptoms
Other possible manifestations/symptoms of hATTR amyloidosis include:
Summary
The peripheral nervous system and heart are the most commonly affected organs. Amyloid fibrils can also build up within the gut, eyes, kidneys, brain, and spinal cord, causing damage and organ dysfunction.
Examples of peripheral nervous system symptoms include burning pain, numbness, tingling, muscle weakness, lightheadedness when standing up, and sexual dysfunction.
Heart-related symptoms include trouble breathing, swelling of the ankles and lower legs, dizziness, and fainting.
Additional symptoms or manifestations of hATTR amyloidosis include unexplained weight loss, kidney failure, decreased vision, dry eyes, and stroke-like episodes, among others.
Hereditary ATTR amyloidosis is a rare, albeit disabling, life-threatening condition. That said, starting a disease-modifying therapy sooner than later can help slow or stop the buildup of amyloid protein.
If you or a loved one is experiencing symptoms associated with hATTR amyloidosis, or if you have a family history of the disease, please reach out to a healthcare provider. If the diagnosis is suspected, ask for a referral to a medical center that specializes in managing amyloidosis.
22 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.Adams D, Koike H, Slama M, Coelho T.Hereditary transthyretin amyloidosis: a model of medical progress for a fatal disease.Nat Rev Neurol. 2019;15(7):387-404. doi:10.1038/s41582-019-0210-4Poli L, Labella B, Cotti Piccinelli S, et al.Hereditary transthyretin amyloidosis: a comprehensive review with a focus on peripheral neuropathy.Front Neurol. 2023;14:1242815. doi:10.3389/fneur.2023.1242815Adams D, Théaudin M, Cauquil C, Algalarrondo V, Slama M.FAP neuropathy and emerging treatments.Curr Neurol Neurosci Rep. 2014;14(3):435. doi:10.1007/s11910-013-0435-3Tozza S, Severi D, Spina E, et al.The neuropathy in hereditary transthyretin amyloidosis: a narrative review.J Peripher Nerv Syst. 2021;26(2):155-159. doi:10.1111/jns.12451Kuznecova I, Mierkyte G, Janciauskas D, et al.Impact of carpal tunnel syndrome surgery on early diagnosis and treatment of transthyretin cardiac amyloidosis.Medicina (Kaunas). 2023;59(2):335. doi:10.3390/medicina59020335Luigetti 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.S219979Wang S, Peng W, Pang M, et al.Clinical profile and prognosis of hereditary transthyretin amyloid cardiomyopathy: a single-center study in South China.Front Cardiovasc Med. 2022;9:900313. doi:10.3389/fcvm.2022.900313American Heart Association.Transthyretin amyloid cardiomyopathy.Wixner J, Mundayat R, Karayal ON, et al.THAOS: gastrointestinal manifestations of transthyretin amyloidosis - common complications of a rare disease.Orphanet J Rare Dis. 2014;9:61. doi:10.1186/1750-1172-9-61Obici L, Suhr OB.Diagnosis and treatment of gastrointestinal dysfunction in hereditary TTR amyloidosis.Clin Auton Res. 2019;29(Suppl 1):55-63. doi:10.1007/s10286-019-00628-6Wixner J, Suhr OB, Anan I.Management of gastrointestinal complications in hereditary transthyretin amyloidosis: a single-center experience over 40 years.Expert Rev Gastroenterol Hepatol. 2018;12(1):73-81. doi:10.1080/17474124.2018.1397511Minnella AM, Rissotto R, Antoniazzi E, et al.Ocular involvement in hereditary amyloidosis.Genes (Basel). 2021;12(7):955. doi:10.3390/genes12070955Ferraro PM, D’Ambrosio V, Di Paolantonio A, Guglielmino V, Calabresi P, Sabatelli M, Luigetti M.Renal involvement in hereditary transthyretin amyloidosis: an Italian single-centre experience.Brain Sci. 2021;11(8):980. doi:10.3390/brainsci11080980Chen TK, Knicely DH, Grams ME.Chronic kidney disease diagnosis and management: a review.JAMA. 2019;322(13):1294-1304. doi:10.1001/jama.2019.14745Taipa R, Sousa L, Pinto M, et al.Neuropathology of central nervous system involvement in TTR amyloidosis.Acta Neuropathol. 2023;145(1):113-126. doi:10.1007/s00401-022-02501-9Sanchez-Caro JM, de Lorenzo Martínez de Ubago I, de Celis Ruiz E, et al.Transient focal neurological events in cerebral amyloid angiopathy and the long-term risk of intracerebral hemorrhage and death: a systematic review and meta-analysis.JAMA Neurol. 2022;79(1):38-47. doi:10.1001/jamaneurol.2021.3989Smith EE, Charidimou A, Ayata C, Werring DJ, Greenberg SM.Cerebral amyloid angiopathy–related transient focal neurologic episodes.Neurology. 2021;97(5):231-238. doi:10.1212/wnl.0000000000012234Amyloidosis Research Consortium.Hereditary transthyretin amyloidosis.Huang G, Ueda M, Tasaki M, et al.Clinicopathological and biochemical findings of thyroid amyloid in hereditary transthyretin amyloidosis with and without liver transplantation.Amyloid. 2017;24(1):24-29. doi:10.1080/13506129.2016.1276440Bartier S, Bodez D, Kharoubi M, et al.Association between hearing loss and hereditary ATTR amyloidosis.Amyloid. 2019;26(4):234-242. doi:10.1080/13506129.2019.1663814Jhawar N, Reynolds J, Nakhleh R, Lyle M.Hereditary transthyretin amyloidosis presenting with spontaneous periorbital purpura: a case report.Eur Heart J Case Rep. 2023;7(3):ytad108. doi:10.1093/ehjcr/ytad108Çakar A, Atmaca MM, Kotan D, et al.Lumbar spinal stenosis: a rare presentation of hereditary transthyretin amyloidosis.Noro Psikiyatr Ars. 2020;59(1):77-79. doi:10.29399/npa.26124
22 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.Adams D, Koike H, Slama M, Coelho T.Hereditary transthyretin amyloidosis: a model of medical progress for a fatal disease.Nat Rev Neurol. 2019;15(7):387-404. doi:10.1038/s41582-019-0210-4Poli L, Labella B, Cotti Piccinelli S, et al.Hereditary transthyretin amyloidosis: a comprehensive review with a focus on peripheral neuropathy.Front Neurol. 2023;14:1242815. doi:10.3389/fneur.2023.1242815Adams D, Théaudin M, Cauquil C, Algalarrondo V, Slama M.FAP neuropathy and emerging treatments.Curr Neurol Neurosci Rep. 2014;14(3):435. doi:10.1007/s11910-013-0435-3Tozza S, Severi D, Spina E, et al.The neuropathy in hereditary transthyretin amyloidosis: a narrative review.J Peripher Nerv Syst. 2021;26(2):155-159. doi:10.1111/jns.12451Kuznecova I, Mierkyte G, Janciauskas D, et al.Impact of carpal tunnel syndrome surgery on early diagnosis and treatment of transthyretin cardiac amyloidosis.Medicina (Kaunas). 2023;59(2):335. doi:10.3390/medicina59020335Luigetti 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.S219979Wang S, Peng W, Pang M, et al.Clinical profile and prognosis of hereditary transthyretin amyloid cardiomyopathy: a single-center study in South China.Front Cardiovasc Med. 2022;9:900313. doi:10.3389/fcvm.2022.900313American Heart Association.Transthyretin amyloid cardiomyopathy.Wixner J, Mundayat R, Karayal ON, et al.THAOS: gastrointestinal manifestations of transthyretin amyloidosis - common complications of a rare disease.Orphanet J Rare Dis. 2014;9:61. doi:10.1186/1750-1172-9-61Obici L, Suhr OB.Diagnosis and treatment of gastrointestinal dysfunction in hereditary TTR amyloidosis.Clin Auton Res. 2019;29(Suppl 1):55-63. doi:10.1007/s10286-019-00628-6Wixner J, Suhr OB, Anan I.Management of gastrointestinal complications in hereditary transthyretin amyloidosis: a single-center experience over 40 years.Expert Rev Gastroenterol Hepatol. 2018;12(1):73-81. doi:10.1080/17474124.2018.1397511Minnella AM, Rissotto R, Antoniazzi E, et al.Ocular involvement in hereditary amyloidosis.Genes (Basel). 2021;12(7):955. doi:10.3390/genes12070955Ferraro PM, D’Ambrosio V, Di Paolantonio A, Guglielmino V, Calabresi P, Sabatelli M, Luigetti M.Renal involvement in hereditary transthyretin amyloidosis: an Italian single-centre experience.Brain Sci. 2021;11(8):980. doi:10.3390/brainsci11080980Chen TK, Knicely DH, Grams ME.Chronic kidney disease diagnosis and management: a review.JAMA. 2019;322(13):1294-1304. doi:10.1001/jama.2019.14745Taipa R, Sousa L, Pinto M, et al.Neuropathology of central nervous system involvement in TTR amyloidosis.Acta Neuropathol. 2023;145(1):113-126. doi:10.1007/s00401-022-02501-9Sanchez-Caro JM, de Lorenzo Martínez de Ubago I, de Celis Ruiz E, et al.Transient focal neurological events in cerebral amyloid angiopathy and the long-term risk of intracerebral hemorrhage and death: a systematic review and meta-analysis.JAMA Neurol. 2022;79(1):38-47. doi:10.1001/jamaneurol.2021.3989Smith EE, Charidimou A, Ayata C, Werring DJ, Greenberg SM.Cerebral amyloid angiopathy–related transient focal neurologic episodes.Neurology. 2021;97(5):231-238. doi:10.1212/wnl.0000000000012234Amyloidosis Research Consortium.Hereditary transthyretin amyloidosis.Huang G, Ueda M, Tasaki M, et al.Clinicopathological and biochemical findings of thyroid amyloid in hereditary transthyretin amyloidosis with and without liver transplantation.Amyloid. 2017;24(1):24-29. doi:10.1080/13506129.2016.1276440Bartier S, Bodez D, Kharoubi M, et al.Association between hearing loss and hereditary ATTR amyloidosis.Amyloid. 2019;26(4):234-242. doi:10.1080/13506129.2019.1663814Jhawar N, Reynolds J, Nakhleh R, Lyle M.Hereditary transthyretin amyloidosis presenting with spontaneous periorbital purpura: a case report.Eur Heart J Case Rep. 2023;7(3):ytad108. doi:10.1093/ehjcr/ytad108Çakar A, Atmaca MM, Kotan D, et al.Lumbar spinal stenosis: a rare presentation of hereditary transthyretin amyloidosis.Noro Psikiyatr Ars. 2020;59(1):77-79. doi:10.29399/npa.26124
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.
Adams D, Koike H, Slama M, Coelho T.Hereditary transthyretin amyloidosis: a model of medical progress for a fatal disease.Nat Rev Neurol. 2019;15(7):387-404. doi:10.1038/s41582-019-0210-4Poli L, Labella B, Cotti Piccinelli S, et al.Hereditary transthyretin amyloidosis: a comprehensive review with a focus on peripheral neuropathy.Front Neurol. 2023;14:1242815. doi:10.3389/fneur.2023.1242815Adams D, Théaudin M, Cauquil C, Algalarrondo V, Slama M.FAP neuropathy and emerging treatments.Curr Neurol Neurosci Rep. 2014;14(3):435. doi:10.1007/s11910-013-0435-3Tozza S, Severi D, Spina E, et al.The neuropathy in hereditary transthyretin amyloidosis: a narrative review.J Peripher Nerv Syst. 2021;26(2):155-159. doi:10.1111/jns.12451Kuznecova I, Mierkyte G, Janciauskas D, et al.Impact of carpal tunnel syndrome surgery on early diagnosis and treatment of transthyretin cardiac amyloidosis.Medicina (Kaunas). 2023;59(2):335. doi:10.3390/medicina59020335Luigetti 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.S219979Wang S, Peng W, Pang M, et al.Clinical profile and prognosis of hereditary transthyretin amyloid cardiomyopathy: a single-center study in South China.Front Cardiovasc Med. 2022;9:900313. doi:10.3389/fcvm.2022.900313American Heart Association.Transthyretin amyloid cardiomyopathy.Wixner J, Mundayat R, Karayal ON, et al.THAOS: gastrointestinal manifestations of transthyretin amyloidosis - common complications of a rare disease.Orphanet J Rare Dis. 2014;9:61. doi:10.1186/1750-1172-9-61Obici L, Suhr OB.Diagnosis and treatment of gastrointestinal dysfunction in hereditary TTR amyloidosis.Clin Auton Res. 2019;29(Suppl 1):55-63. doi:10.1007/s10286-019-00628-6Wixner J, Suhr OB, Anan I.Management of gastrointestinal complications in hereditary transthyretin amyloidosis: a single-center experience over 40 years.Expert Rev Gastroenterol Hepatol. 2018;12(1):73-81. doi:10.1080/17474124.2018.1397511Minnella AM, Rissotto R, Antoniazzi E, et al.Ocular involvement in hereditary amyloidosis.Genes (Basel). 2021;12(7):955. doi:10.3390/genes12070955Ferraro PM, D’Ambrosio V, Di Paolantonio A, Guglielmino V, Calabresi P, Sabatelli M, Luigetti M.Renal involvement in hereditary transthyretin amyloidosis: an Italian single-centre experience.Brain Sci. 2021;11(8):980. doi:10.3390/brainsci11080980Chen TK, Knicely DH, Grams ME.Chronic kidney disease diagnosis and management: a review.JAMA. 2019;322(13):1294-1304. doi:10.1001/jama.2019.14745Taipa R, Sousa L, Pinto M, et al.Neuropathology of central nervous system involvement in TTR amyloidosis.Acta Neuropathol. 2023;145(1):113-126. doi:10.1007/s00401-022-02501-9Sanchez-Caro JM, de Lorenzo Martínez de Ubago I, de Celis Ruiz E, et al.Transient focal neurological events in cerebral amyloid angiopathy and the long-term risk of intracerebral hemorrhage and death: a systematic review and meta-analysis.JAMA Neurol. 2022;79(1):38-47. doi:10.1001/jamaneurol.2021.3989Smith EE, Charidimou A, Ayata C, Werring DJ, Greenberg SM.Cerebral amyloid angiopathy–related transient focal neurologic episodes.Neurology. 2021;97(5):231-238. doi:10.1212/wnl.0000000000012234Amyloidosis Research Consortium.Hereditary transthyretin amyloidosis.Huang G, Ueda M, Tasaki M, et al.Clinicopathological and biochemical findings of thyroid amyloid in hereditary transthyretin amyloidosis with and without liver transplantation.Amyloid. 2017;24(1):24-29. doi:10.1080/13506129.2016.1276440Bartier S, Bodez D, Kharoubi M, et al.Association between hearing loss and hereditary ATTR amyloidosis.Amyloid. 2019;26(4):234-242. doi:10.1080/13506129.2019.1663814Jhawar N, Reynolds J, Nakhleh R, Lyle M.Hereditary transthyretin amyloidosis presenting with spontaneous periorbital purpura: a case report.Eur Heart J Case Rep. 2023;7(3):ytad108. doi:10.1093/ehjcr/ytad108Çakar A, Atmaca MM, Kotan D, et al.Lumbar spinal stenosis: a rare presentation of hereditary transthyretin amyloidosis.Noro Psikiyatr Ars. 2020;59(1):77-79. doi:10.29399/npa.26124
Adams D, Koike H, Slama M, Coelho T.Hereditary transthyretin amyloidosis: a model of medical progress for a fatal disease.Nat Rev Neurol. 2019;15(7):387-404. doi:10.1038/s41582-019-0210-4
Poli L, Labella B, Cotti Piccinelli S, et al.Hereditary transthyretin amyloidosis: a comprehensive review with a focus on peripheral neuropathy.Front Neurol. 2023;14:1242815. doi:10.3389/fneur.2023.1242815
Adams D, Théaudin M, Cauquil C, Algalarrondo V, Slama M.FAP neuropathy and emerging treatments.Curr Neurol Neurosci Rep. 2014;14(3):435. doi:10.1007/s11910-013-0435-3
Tozza S, Severi D, Spina E, et al.The neuropathy in hereditary transthyretin amyloidosis: a narrative review.J Peripher Nerv Syst. 2021;26(2):155-159. doi:10.1111/jns.12451
Kuznecova I, Mierkyte G, Janciauskas D, et al.Impact of carpal tunnel syndrome surgery on early diagnosis and treatment of transthyretin cardiac amyloidosis.Medicina (Kaunas). 2023;59(2):335. doi:10.3390/medicina59020335
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
Wang S, Peng W, Pang M, et al.Clinical profile and prognosis of hereditary transthyretin amyloid cardiomyopathy: a single-center study in South China.Front Cardiovasc Med. 2022;9:900313. doi:10.3389/fcvm.2022.900313
American Heart Association.Transthyretin amyloid cardiomyopathy.
Wixner J, Mundayat R, Karayal ON, et al.THAOS: gastrointestinal manifestations of transthyretin amyloidosis - common complications of a rare disease.Orphanet J Rare Dis. 2014;9:61. doi:10.1186/1750-1172-9-61
Obici L, Suhr OB.Diagnosis and treatment of gastrointestinal dysfunction in hereditary TTR amyloidosis.Clin Auton Res. 2019;29(Suppl 1):55-63. doi:10.1007/s10286-019-00628-6
Wixner J, Suhr OB, Anan I.Management of gastrointestinal complications in hereditary transthyretin amyloidosis: a single-center experience over 40 years.Expert Rev Gastroenterol Hepatol. 2018;12(1):73-81. doi:10.1080/17474124.2018.1397511
Minnella AM, Rissotto R, Antoniazzi E, et al.Ocular involvement in hereditary amyloidosis.Genes (Basel). 2021;12(7):955. doi:10.3390/genes12070955
Ferraro PM, D’Ambrosio V, Di Paolantonio A, Guglielmino V, Calabresi P, Sabatelli M, Luigetti M.Renal involvement in hereditary transthyretin amyloidosis: an Italian single-centre experience.Brain Sci. 2021;11(8):980. doi:10.3390/brainsci11080980
Chen TK, Knicely DH, Grams ME.Chronic kidney disease diagnosis and management: a review.JAMA. 2019;322(13):1294-1304. doi:10.1001/jama.2019.14745
Taipa R, Sousa L, Pinto M, et al.Neuropathology of central nervous system involvement in TTR amyloidosis.Acta Neuropathol. 2023;145(1):113-126. doi:10.1007/s00401-022-02501-9
Sanchez-Caro JM, de Lorenzo Martínez de Ubago I, de Celis Ruiz E, et al.Transient focal neurological events in cerebral amyloid angiopathy and the long-term risk of intracerebral hemorrhage and death: a systematic review and meta-analysis.JAMA Neurol. 2022;79(1):38-47. doi:10.1001/jamaneurol.2021.3989
Smith EE, Charidimou A, Ayata C, Werring DJ, Greenberg SM.Cerebral amyloid angiopathy–related transient focal neurologic episodes.Neurology. 2021;97(5):231-238. doi:10.1212/wnl.0000000000012234
Amyloidosis Research Consortium.Hereditary transthyretin amyloidosis.
Huang G, Ueda M, Tasaki M, et al.Clinicopathological and biochemical findings of thyroid amyloid in hereditary transthyretin amyloidosis with and without liver transplantation.Amyloid. 2017;24(1):24-29. doi:10.1080/13506129.2016.1276440
Bartier S, Bodez D, Kharoubi M, et al.Association between hearing loss and hereditary ATTR amyloidosis.Amyloid. 2019;26(4):234-242. doi:10.1080/13506129.2019.1663814
Jhawar N, Reynolds J, Nakhleh R, Lyle M.Hereditary transthyretin amyloidosis presenting with spontaneous periorbital purpura: a case report.Eur Heart J Case Rep. 2023;7(3):ytad108. doi:10.1093/ehjcr/ytad108
Çakar A, Atmaca MM, Kotan D, et al.Lumbar spinal stenosis: a rare presentation of hereditary transthyretin amyloidosis.Noro Psikiyatr Ars. 2020;59(1):77-79. doi:10.29399/npa.26124
Meet Our Medical Expert Board
Share Feedback
Was this page helpful?Thanks for your feedback!What is your feedback?OtherHelpfulReport an ErrorSubmit
Was this page helpful?
Thanks for your feedback!
What is your feedback?OtherHelpfulReport an ErrorSubmit
What is your feedback?
