Familial amyloid neuropathy: Difference between revisions
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{{Infobox medical condition | |||
| name = Familial amyloid neuropathy | |||
| synonyms = Transthyretin amyloidosis, ATTR amyloidosis | |||
| field = [[Neurology]], [[Genetics]] | |||
| symptoms = [[Peripheral neuropathy]], [[autonomic dysfunction]], [[cardiomyopathy]], [[nephropathy]] | |||
| onset = Typically between ages 20 and 40 | |||
| duration = Progressive | |||
| causes = Mutations in the [[TTR gene]] | |||
| risks = Family history | |||
| diagnosis = [[Genetic testing]], [[biopsy]], [[imaging studies]] | |||
| differential = [[Chronic inflammatory demyelinating polyneuropathy]], [[diabetic neuropathy]] | |||
| treatment = [[Liver transplantation]], [[tafamidis]], [[diflunisal]], [[patisiran]], [[inotersen]] | |||
| prognosis = Variable, depends on mutation and treatment | |||
| frequency = Rare | |||
}} | |||
'''Familial amyloid neuropathy''' (FAN), also known as '''Familial amyloid polyneuropathy''' (FAP), is a rare genetic disorder characterized by the production of abnormal protein deposits, known as amyloid, in various tissues and organs of the body. These deposits can lead to a wide range of symptoms, depending on the organs affected. | '''Familial amyloid neuropathy''' (FAN), also known as '''Familial amyloid polyneuropathy''' (FAP), is a rare genetic disorder characterized by the production of abnormal protein deposits, known as amyloid, in various tissues and organs of the body. These deposits can lead to a wide range of symptoms, depending on the organs affected. | ||
==Etiology== | ==Etiology== | ||
FAN is caused by mutations in the [[Transthyretin]] (TTR) gene. This gene provides instructions for making a protein that carries thyroid hormones in the blood and cerebrospinal fluid. Mutations in the TTR gene cause the protein to misfold, leading to the formation of amyloid deposits. | FAN is caused by mutations in the [[Transthyretin]] (TTR) gene. This gene provides instructions for making a protein that carries thyroid hormones in the blood and cerebrospinal fluid. Mutations in the TTR gene cause the protein to misfold, leading to the formation of amyloid deposits. | ||
==Symptoms== | ==Symptoms== | ||
The symptoms of FAN can vary widely, depending on the organs affected by the amyloid deposits. Common symptoms include [[Peripheral neuropathy|peripheral neuropathy]], [[Autonomic neuropathy|autonomic neuropathy]], and [[Cardiomyopathy|cardiomyopathy]]. Other symptoms can include [[Gastrointestinal tract|gastrointestinal]] disturbances, [[Kidney|renal]] dysfunction, and [[Ophthalmology|ophthalmological]] problems. | The symptoms of FAN can vary widely, depending on the organs affected by the amyloid deposits. Common symptoms include [[Peripheral neuropathy|peripheral neuropathy]], [[Autonomic neuropathy|autonomic neuropathy]], and [[Cardiomyopathy|cardiomyopathy]]. Other symptoms can include [[Gastrointestinal tract|gastrointestinal]] disturbances, [[Kidney|renal]] dysfunction, and [[Ophthalmology|ophthalmological]] problems. | ||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis of FAN is based on a combination of clinical symptoms, family history, and genetic testing. [[Biopsy|Biopsies]] of affected tissues can also be used to confirm the presence of amyloid deposits. | Diagnosis of FAN is based on a combination of clinical symptoms, family history, and genetic testing. [[Biopsy|Biopsies]] of affected tissues can also be used to confirm the presence of amyloid deposits. | ||
==Treatment== | ==Treatment== | ||
Treatment for FAN is aimed at managing symptoms and slowing the progression of the disease. This can include medications to manage neuropathic pain and gastrointestinal symptoms, as well as interventions to manage cardiac and renal complications. In some cases, [[Liver transplantation|liver transplantation]] or [[Stem cell transplantation|stem cell transplantation]] may be considered. | Treatment for FAN is aimed at managing symptoms and slowing the progression of the disease. This can include medications to manage neuropathic pain and gastrointestinal symptoms, as well as interventions to manage cardiac and renal complications. In some cases, [[Liver transplantation|liver transplantation]] or [[Stem cell transplantation|stem cell transplantation]] may be considered. | ||
==Prognosis== | ==Prognosis== | ||
The prognosis for individuals with FAN can vary widely, depending on the specific mutation in the TTR gene, the organs affected, and the individual's overall health. With appropriate management, many individuals with FAN can lead productive lives. | The prognosis for individuals with FAN can vary widely, depending on the specific mutation in the TTR gene, the organs affected, and the individual's overall health. With appropriate management, many individuals with FAN can lead productive lives. | ||
==See also== | ==See also== | ||
* [[Amyloidosis]] | * [[Amyloidosis]] | ||
* [[Transthyretin-related hereditary amyloidosis]] | * [[Transthyretin-related hereditary amyloidosis]] | ||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
* [[Neuropathy]] | * [[Neuropathy]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Neurological disorders]] | [[Category:Neurological disorders]] | ||
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{{Medicine-stub}} | {{Medicine-stub}} | ||
{{No image}} | {{No image}} | ||
Latest revision as of 23:51, 3 April 2025
| Familial amyloid neuropathy | |
|---|---|
| Synonyms | Transthyretin amyloidosis, ATTR amyloidosis |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Peripheral neuropathy, autonomic dysfunction, cardiomyopathy, nephropathy |
| Complications | N/A |
| Onset | Typically between ages 20 and 40 |
| Duration | Progressive |
| Types | N/A |
| Causes | Mutations in the TTR gene |
| Risks | Family history |
| Diagnosis | Genetic testing, biopsy, imaging studies |
| Differential diagnosis | Chronic inflammatory demyelinating polyneuropathy, diabetic neuropathy |
| Prevention | N/A |
| Treatment | Liver transplantation, tafamidis, diflunisal, patisiran, inotersen |
| Medication | N/A |
| Prognosis | Variable, depends on mutation and treatment |
| Frequency | Rare |
| Deaths | N/A |
Familial amyloid neuropathy (FAN), also known as Familial amyloid polyneuropathy (FAP), is a rare genetic disorder characterized by the production of abnormal protein deposits, known as amyloid, in various tissues and organs of the body. These deposits can lead to a wide range of symptoms, depending on the organs affected.
Etiology[edit]
FAN is caused by mutations in the Transthyretin (TTR) gene. This gene provides instructions for making a protein that carries thyroid hormones in the blood and cerebrospinal fluid. Mutations in the TTR gene cause the protein to misfold, leading to the formation of amyloid deposits.
Symptoms[edit]
The symptoms of FAN can vary widely, depending on the organs affected by the amyloid deposits. Common symptoms include peripheral neuropathy, autonomic neuropathy, and cardiomyopathy. Other symptoms can include gastrointestinal disturbances, renal dysfunction, and ophthalmological problems.
Diagnosis[edit]
Diagnosis of FAN is based on a combination of clinical symptoms, family history, and genetic testing. Biopsies of affected tissues can also be used to confirm the presence of amyloid deposits.
Treatment[edit]
Treatment for FAN is aimed at managing symptoms and slowing the progression of the disease. This can include medications to manage neuropathic pain and gastrointestinal symptoms, as well as interventions to manage cardiac and renal complications. In some cases, liver transplantation or stem cell transplantation may be considered.
Prognosis[edit]
The prognosis for individuals with FAN can vary widely, depending on the specific mutation in the TTR gene, the organs affected, and the individual's overall health. With appropriate management, many individuals with FAN can lead productive lives.
