Familial transthyretin amyloidosis

Title

Other Names:

Amyloidosis, hereditary, transthyretin-related; Transthyretin amyloidosis; Familial amyloid polyneuropathy; Amyloidosis, hereditary, transthyretin-related; Transthyretin amyloidosis; Familial amyloid polyneuropathy; Amyloidosis Transthyretin related; Transthyretin amyloid neuropathy; TTR amyloid neuropathy; Transthyretin amyloid polyneuropathy; Hereditary ATTR amyloidosis See More

Categories:

Nervous System Diseases

This disease is grouped under:

Amyloid neuropathy; Hereditary amyloidosis

Summary Summary

Familial transthyretin amyloidosis (FTA) is a progressive condition characterized by abnormal deposits of a protein called amyloid in the body's organs and tissues.^[1] Signs and symptoms can vary significantly depending on the location of deposits. Most people have nervous system symptoms that may affect the peripheral, autonomic or central nervous system (brain and spinal cord).^[2] Amyloid deposits in the nerves of the peripheral nervous system cause peripheral neuropathy (loss of sensation). Deposits affecting the autonomic nervous system cause a disruption to involuntary body functions, such as blood pressure, heart rate, and digestion.^[1] Other areas of the body affected may include the heart, kidneys, eyes, and gastrointestinal tract.^[2] FTA is caused by mutations in the TTR gene. Inheritance is autosomal dominant, but not all people with a TTR gene mutation will develop FTA.^[1]^[3] There is no treatment available that reverses damage caused by amyloid deposits, but there are treatments that may prevent or delay progression.^[4]^[2] Treatment depends on the tissues affected, and may include liver transplantation (which removes the source of the deposits), heart and/or kidney transplantation, vitrectomy, and/or various medications. Life expectancy depends on many factors and may range from several years to decades after symptoms begin.^[4]

Last updated: 10/23/2017

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
Percent of people who have these symptoms is not available through HPO
Adult onset	Symptoms begin in adulthood	0003581
Amyloid deposition in the vitreous humor		0007841
Amyloidosis		0011034
Ataxia		0001251
Autosomal dominant inheritance		0000006
Cardiomegaly	Enlarged heart Increased heart size [ more ]	0001640
Cardiomyopathy	Disease of the heart muscle	0001638
Constipation		0002019
Constrictive median neuropathy		0012185
Dementia	Dementia, progressive Progressive dementia [ more ]	0000726
Diarrhea	Watery stool	0002014
Dysarthria	Difficulty articulating speech	0001260
Headache	Headaches	0002315
Hearing impairment	Deafness Hearing defect [ more ]	0000365
Hemiparesis		0001269
Hyporeflexia		0001265
Impotence	Difficulty getting a full erection Difficulty getting an erection Erectile dysfunction [ more ]	0000802
Increased CSF protein		0002922
Muscle weakness	Muscular weakness	0001324
Nystagmus	Involuntary, rapid, rhythmic eye movements	0000639
Orthostatic hypotension due to autonomic dysfunction		0004926
Paraplegia	Leg paralysis	0010550
Peripheral axonal neuropathy		0003477
Polyneuropathy	Peripheral nerve disease	0001271
Progressive		0003676
Seizures	Seizure	0001250
Spasticity	Involuntary muscle stiffness, contraction, or spasm	0001257
Stroke-like episode	Stroke-like episodes	0002401
Tremor	Tremors	0001337
Urinary incontinence	Loss of bladder control	0000020
Visual impairment	Impaired vision Loss of eyesight Poor vision [ more ]	0000505

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 10/1/2018

Do you have updated information on this disease? We want to hear from you.

Treatment Treatment

There is no treatment available that reverses damage caused by amyloid deposits, but there are treatments that may prevent or delay progression.^[4]^[2] Treatment depends on the tissues affected, and may include liver transplantation, heart and/or kidney transplantation, vitrectomy for eye involvement, carpal tunnel release, and/or various medications.^[4]

Liver transplantation is the "gold standard" for treatment because it replaces the main source of abnormal amyloid. It may slow or halt progression of sensory, motor, and autonomic neuropathy. However, the disease often still progresses in other organs. Transplantation ideally should be done as early as possible, before there is severe neurologic disability. Diuretics are typically used to manage congestive heart failure associated with the disease.^[4]

Last updated: 10/23/2017

FDA-Approved Treatments

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

Patisiran (Brand name: Onpattro) - Manufactured by Alnylam Pharmaceuticals, Inc.
FDA-approved indication: August 2018, patisiran (Onpattro) was approved for the treatment of the polyneuropathy of hereditary transthyretin-mediated amyloidosis in adults.
National Library of Medicine Drug Information Portal

Prognosis Prognosis

The outlook and life expectancy for each person with familial transthyretin amyloidosis (FTA) varies and depends on the TTR gene change present, organ(s) involved, and how early in the disease a person is treated. For example, some people with early-onset disease may die within a few years of diagnosis, while older patients with slowly progressive disease can live for decades.^[4] Prognosis after liver transplant is also influenced by many factors, including the type of abnormal amyloid present, nutritional status, age, and extent of nerve and heart involvement.^[5] People with questions about their personal outlook should speak with their healthcare providers.

Last updated: 10/23/2017

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Familial transthyretin amyloidosis. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Amyloidosis Australia, Inc.
131-133 Napier Street
St. Arnaud,
Victoria, 3478
Australia
Telephone: 03 9001 9312
E-mail: ellen@amyloidosis.com.au
Website: http://www.amyloidosis.com.au/
Amyloidosis Foundation
7151 N. Main Street
Suite 2
Clarkston, MI 48346
Toll-free: 877-AMYLOID (1-877-269-5643)
E-mail: info@amyloidosis.org
Website: http://www.amyloidosis.org/
Amyloidosis Support Groups Inc.
232 Orchard Drive
Wood Dale, IL 60191
Toll-free: 866-404-7539
Telephone: 847-350-7540
E-mail: info@amyloidosissupport.com , muriel@amyloidosissupport.com
Website: http://www.amyloidosissupport.com

Social Networking Websites

RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).

Do you know of an organization? We want to hear from you.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Amyloidosis Awareness is an illustrated booklet for patients and physicians developed by Amyloidosis Support Groups Inc. Versions of the booklet are also available in Spanish and Portuguese.
Genetics Home Reference (GHR) contains information on Familial transthyretin amyloidosis. This website is maintained by the National Library of Medicine.

In-Depth Information

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
PubMed is a searchable database of medical literature and lists journal articles that discuss Familial transthyretin amyloidosis. Click on the link to view a sample search on this topic.

News & Events News & Events

News

NCATS Rare Diseases Are Not Rare! Challenge
October 9, 2018
The NIH Undiagnosed Diseases Network Expands
September 26, 2018
The XVIth International Symposium on Amyloidosis
May 31, 2017

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

I am living in Israel, and my father has the rare disease familial amyloid polyneuropathy. What are the treatment options for this disease? Have people been successfully treated? See answer

Have a question? Contact a GARD Information Specialist.

References References

Transthyretin amyloidosis. Genetics Home Reference. January, 2009; https://ghr.nlm.nih.gov/condition/transthyretin-amyloidosis.
Obici L, Kuks JB, Buades J, et al. Recommendations for presymptomatic genetic testing and management of individuals at risk for hereditary transthyretin amyloidosis. Curr Opin Neurol. February, 2016; Suppl 1:S27-35. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4739313/.
Hamosh A. Amyloidosis, hereditary, transthyretin-related. Online Mendelian Inheritance in Man (OMIM). October 15, 2013; https://www.omim.org/entry/105210.
Jefferson R Roberts. Transthyretin-Related Amyloidosis. Medscape Reference. January 26, 2017; https://emedicine.medscape.com/article/335301-overview.
Ando Y, Coelho T, Berk JL. Guideline of transthyretin-related hereditary amyloidosis for clinicians. Orphanet Journal of Rare Diseases. 2013; 8:31:https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-8-31.