Heredofamilial amyloidosis: Difference between revisions
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{{Infobox medical condition | |||
| name = Heredofamilial amyloidosis | |||
| synonyms = Familial amyloid polyneuropathy, familial amyloidotic polyneuropathy | |||
| field = [[Neurology]], [[Genetics]] | |||
| symptoms = [[Peripheral neuropathy]], [[autonomic dysfunction]], [[cardiomyopathy]], [[nephropathy]] | |||
| complications = [[Heart failure]], [[renal failure]], [[gastrointestinal issues]] | |||
| onset = Typically in adulthood | |||
| duration = Progressive | |||
| causes = Genetic mutations in [[transthyretin]] (TTR) or other amyloidogenic proteins | |||
| risks = Family history of the condition | |||
| diagnosis = [[Genetic testing]], [[biopsy]] with [[Congo red staining]], [[immunohistochemistry]] | |||
| differential = [[Primary amyloidosis]], [[secondary amyloidosis]], [[multiple myeloma]] | |||
| treatment = [[Liver transplantation]], [[tafamidis]], [[diflunisal]], [[patisiran]], [[inotersen]] | |||
| prognosis = Variable, depends on the specific mutation and organ involvement | |||
| frequency = Rare | |||
}} | |||
'''Heredofamilial amyloidosis''' is a type of [[amyloidosis]] that is inherited in an autosomal dominant manner. It is characterized by the deposition of [[amyloid]] (abnormal proteins) in various body tissues and organs, which can lead to a variety of symptoms and complications. | '''Heredofamilial amyloidosis''' is a type of [[amyloidosis]] that is inherited in an autosomal dominant manner. It is characterized by the deposition of [[amyloid]] (abnormal proteins) in various body tissues and organs, which can lead to a variety of symptoms and complications. | ||
== Causes == | == Causes == | ||
Heredofamilial amyloidosis is caused by mutations in various genes. These mutations lead to the production of abnormal proteins that form amyloid. The amyloid then deposits in various tissues and organs, causing damage and dysfunction. | Heredofamilial amyloidosis is caused by mutations in various genes. These mutations lead to the production of abnormal proteins that form amyloid. The amyloid then deposits in various tissues and organs, causing damage and dysfunction. | ||
== Symptoms == | == Symptoms == | ||
The symptoms of heredofamilial amyloidosis can vary widely, depending on which tissues and organs are affected. They can include: | The symptoms of heredofamilial amyloidosis can vary widely, depending on which tissues and organs are affected. They can include: | ||
* [[Peripheral neuropathy]] | * [[Peripheral neuropathy]] | ||
* [[Autonomic neuropathy]] | * [[Autonomic neuropathy]] | ||
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* [[Nephrotic syndrome]] | * [[Nephrotic syndrome]] | ||
* [[Vitreous opacities]] | * [[Vitreous opacities]] | ||
== Diagnosis == | == Diagnosis == | ||
The diagnosis of heredofamilial amyloidosis is based on the presence of characteristic symptoms, a family history of the disease, and the results of various tests. These tests can include: | The diagnosis of heredofamilial amyloidosis is based on the presence of characteristic symptoms, a family history of the disease, and the results of various tests. These tests can include: | ||
* [[Biopsy]] of affected tissues | * [[Biopsy]] of affected tissues | ||
* [[Genetic testing]] | * [[Genetic testing]] | ||
* [[Blood tests]] | * [[Blood tests]] | ||
* [[Urine tests]] | * [[Urine tests]] | ||
== Treatment == | == Treatment == | ||
The treatment of heredofamilial amyloidosis is aimed at managing symptoms and slowing the progression of the disease. It can include: | The treatment of heredofamilial amyloidosis is aimed at managing symptoms and slowing the progression of the disease. It can include: | ||
* [[Medications]] | * [[Medications]] | ||
* [[Dietary changes]] | * [[Dietary changes]] | ||
* [[Physical therapy]] | * [[Physical therapy]] | ||
* [[Surgery]] | * [[Surgery]] | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with heredofamilial amyloidosis can vary widely, depending on the severity of the disease and the organs affected. Some individuals may have a relatively normal lifespan, while others may have a significantly shortened lifespan due to complications of the disease. | The prognosis for individuals with heredofamilial amyloidosis can vary widely, depending on the severity of the disease and the organs affected. Some individuals may have a relatively normal lifespan, while others may have a significantly shortened lifespan due to complications of the disease. | ||
== See also == | == See also == | ||
* [[Amyloidosis]] | * [[Amyloidosis]] | ||
* [[Genetic disorders]] | * [[Genetic disorders]] | ||
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* [[Cardiomyopathy]] | * [[Cardiomyopathy]] | ||
* [[Nephrotic syndrome]] | * [[Nephrotic syndrome]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Neurological disorders]] | [[Category:Neurological disorders]] | ||
[[Category:Cardiovascular diseases]] | [[Category:Cardiovascular diseases]] | ||
[[Category:Kidney diseases]] | [[Category:Kidney diseases]] | ||
{{stub}} | {{stub}} | ||
{{dictionary-stub1}} | {{dictionary-stub1}} | ||
{{No image}} | {{No image}} | ||
Latest revision as of 00:40, 4 April 2025
| Heredofamilial amyloidosis | |
|---|---|
| Synonyms | Familial amyloid polyneuropathy, familial amyloidotic polyneuropathy |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Peripheral neuropathy, autonomic dysfunction, cardiomyopathy, nephropathy |
| Complications | Heart failure, renal failure, gastrointestinal issues |
| Onset | Typically in adulthood |
| Duration | Progressive |
| Types | N/A |
| Causes | Genetic mutations in transthyretin (TTR) or other amyloidogenic proteins |
| Risks | Family history of the condition |
| Diagnosis | Genetic testing, biopsy with Congo red staining, immunohistochemistry |
| Differential diagnosis | Primary amyloidosis, secondary amyloidosis, multiple myeloma |
| Prevention | N/A |
| Treatment | Liver transplantation, tafamidis, diflunisal, patisiran, inotersen |
| Medication | N/A |
| Prognosis | Variable, depends on the specific mutation and organ involvement |
| Frequency | Rare |
| Deaths | N/A |
Heredofamilial amyloidosis is a type of amyloidosis that is inherited in an autosomal dominant manner. It is characterized by the deposition of amyloid (abnormal proteins) in various body tissues and organs, which can lead to a variety of symptoms and complications.
Causes[edit]
Heredofamilial amyloidosis is caused by mutations in various genes. These mutations lead to the production of abnormal proteins that form amyloid. The amyloid then deposits in various tissues and organs, causing damage and dysfunction.
Symptoms[edit]
The symptoms of heredofamilial amyloidosis can vary widely, depending on which tissues and organs are affected. They can include:
Diagnosis[edit]
The diagnosis of heredofamilial amyloidosis is based on the presence of characteristic symptoms, a family history of the disease, and the results of various tests. These tests can include:
- Biopsy of affected tissues
- Genetic testing
- Blood tests
- Urine tests
Treatment[edit]
The treatment of heredofamilial amyloidosis is aimed at managing symptoms and slowing the progression of the disease. It can include:
Prognosis[edit]
The prognosis for individuals with heredofamilial amyloidosis can vary widely, depending on the severity of the disease and the organs affected. Some individuals may have a relatively normal lifespan, while others may have a significantly shortened lifespan due to complications of the disease.
