Rare Hematology News
Advertisement
Disease Profile
Familial transthyretin amyloidosis
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
#N/A
Age of onset
#N/A
ICD-10
#N/A
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Amyloidosis, hereditary, transthyretin-related; Transthyretin amyloidosis; Familial amyloid polyneuropathy;
Categories
Nervous System Diseases
Summary
FTA is caused by changes (
Primary treatment is a liver transplantation. This procedure removes the main source of amyloid from the body, but amyloid may still build-up in the heart, brain, and eyes. New medications have become available that block the formation of amyloid and may provide an alternative to liver transplant. Other treatments include heart and/or kidney transplantation, putting in a pacemaker, replacing the fluid in the eye (vitrectomy), and various medications.[3] FTA is typically a fatal condition, but life expectancy depends on many factors.[1][3]
Symptoms
The most common form of FTA affects the peripheral nervous system. The peripheral nerves send messages from the brain and spinal cord to the rest of the body. Other forms of FTA can affect the brain, spinal cord, heart, and eyes.[1][2][4]
Symptoms of FTA include[5]
• Weakness, numbness or pain in the lower legs and feet
• Carpal tunnel syndrome in both wrists
• Sexual impotence
• Urinary problems,
• Diarrhea or constipation
• Unexplained weight loss
• Dry eyes, increased pressure in the eyes (glaucoma), seeing ‘floaters’
• Abnormal heart beat, enlarged heart
• Getting dizzy when moving from sitting to standing (orthostatic hypotension)
• Dry eyes and mouth
Later symptoms may include muscle weakness and stiffness, difficulty with coordination, stroke,
Less common symptoms include skin changes,
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.
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 | |
0001251 | ||
0000006 | ||
Cardiomegaly |
Enlarged heart
Increased heart size
[ more ] |
0001640 |
Disease of the heart muscle
|
0001638 | |
Constipation | 0002019 | |
Constrictive median neuropathy | 0012185 | |
Dementia |
Dementia, progressive
Progressive dementia
[ more ] |
0000726 |
Diarrhea |
Watery stool
|
0002014 |
Difficulty articulating speech
|
0001260 | |
Headache |
Headaches
|
0002315 |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
Hemiparesis |
Weakness of one side of body
|
0001269 |
Hyporeflexia |
Decreased reflex response
Decreased reflexes
[ more ] |
0001265 |
Difficulty getting a full erection
Difficulty getting an erection
[ more ] |
0000802 | |
Increased CSF protein | 0002922 | |
Leptomeningeal enhancement | 0032070 | |
Muscle weakness |
Muscular weakness
|
0001324 |
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 |
Worsens with time
|
0003676 |
Seizure | 0001250 | |
Involuntary muscle stiffness, contraction, or spasm
|
0001257 | |
Stroke-like episode | 0002401 | |
Tremor | 0001337 | |
Urinary incontinence |
Loss of bladder control
|
0000020 |
Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ] |
0000505 |
Cause
Most people who have FTA have
Diagnosis
Treatment
Liver transplantation is the "gold standard" for treatment for FTA, because it replaces the main source of amyloid. It may slow or halt progression of
Several medications have been developed that slow the build-up of amyloid along nerves and in other parts of the body. These include tafamidis, diflunsial, and more recently inotersen and patisiran. There are other drugs that are currently under investigation for this condition.[3][6]
Additional treatments may include heart and/or kidney transplantation, replacement of the liquid part of the eye (vitrectomy) for eye involvement, and carpal tunnel surgery.[3]
Diuretics, medications that remove excess water and salt from the body, are often used to manage congestive heart failure associated with the disease. Other symptoms of FTA are treated as they arise.[3]
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 - Inotersen(Brand name: Tegsedi) Manufactured by Ionis Pharmaceuticals, Inc.
FDA-approved indication: October 2018, inotersen (Tegsedi) was approved for the treatment of the polyneuropathy of hereditary transthyretinmediated amyloidosis in adults.
National Library of Medicine Drug Information Portal
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 5495 1169
E-mail: [email protected]
Website: https://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: [email protected]
Website: https://www.amyloidosis.org/ -
Amyloidosis Support Groups Inc.
232 Orchard Drive
Wood Dale, IL 60191
Toll-free: 866-404-7539
Telephone: 630-350-7539
E-mail: [email protected]
Website: https://www.amyloidosissupport.org/
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).
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.
References
- Roberts JR. Transthyretin-Related Amyloidosis. Medscape Reference. Updated 10/10/2018; https://emedicine.medscape.com/article/335301-overview.
- Transthyretin amyloidosis. Genetics Home Reference. Updated 10/30/2018; https://ghr.nlm.nih.gov/condition/transthyretin-amyloidosis.
- 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.
- Sekijima Y, Yoshida K, Tokuda T, Ikeda S-I. Familial transthyretin amyloidosis. GeneReviews. Updated January 26, 2012; https://www.ncbi.nlm.nih.gov/books/NBK1194/. Accessed 11/15/2018.
- Pinto MV, Barreria AA, Bulle AS, Gomes de Freitas MR, et al. Brazilian consensus for diagnosis, management and treatment for transthyretin familial amyloid polyneuropathy. Arg Neuropsiquiatr. Sep 2018; 76(9):609-621. https://www.ncbi.nlm.nih.gov/pubmed/30365625.
- 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/.
- Plante-Bordeneuve V. Transthyretin familial amyloid polyneuropathy: an update. Jl of Neuro. 2018; 265:976-983. https://www.ncbi.nih.gov/pubmed/29249054.
Rare Hematology News