Tangier disease: Difference between revisions
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[[ | {{SI}} | ||
{{Infobox medical condition | |||
| name = Tangier disease | |||
| image = [[File:autorecessive.svg|200px]] | |||
| caption = Tangier disease is inherited in an [[autosomal recessive]] manner. | |||
| synonyms = [[Familial alpha-lipoprotein deficiency]], [[Analphalipoproteinemia]] | |||
| pronounce = | |||
| specialty = [[Endocrinology]], [[Genetics]] | |||
| symptoms = [[Peripheral neuropathy]], [[enlarged liver]], [[enlarged spleen]], [[orange tonsils]] | |||
| complications = [[Atherosclerosis]], [[cardiovascular disease]] | |||
| onset = Childhood | |||
| duration = Lifelong | |||
| types = | |||
| causes = Mutations in the [[ABCA1]] gene | |||
| risks = | |||
| diagnosis = [[Blood test]], [[genetic testing]] | |||
| differential = [[Hypoalphalipoproteinemia]], [[Familial HDL deficiency]] | |||
| prevention = | |||
| treatment = [[Dietary management]], [[cholesterol-lowering medications]] | |||
| medication = | |||
| prognosis = Variable, risk of [[cardiovascular disease]] | |||
| frequency = Very rare | |||
| deaths = | |||
}} | |||
'''Tangier disease''' | |||
'''Tangier disease''', also known as '''familial alpha-lipoprotein deficiency''', is a rare inherited disorder characterized by a severe reduction in the amount of high-density lipoprotein (HDL) in the blood. HDL is often referred to as "good cholesterol" because it helps remove excess cholesterol from the bloodstream. The disease is named after Tangier Island in Virginia, where the first identified cases were discovered. | '''Tangier disease''', also known as '''familial alpha-lipoprotein deficiency''', is a rare inherited disorder characterized by a severe reduction in the amount of high-density lipoprotein (HDL) in the blood. HDL is often referred to as "good cholesterol" because it helps remove excess cholesterol from the bloodstream. The disease is named after Tangier Island in Virginia, where the first identified cases were discovered. | ||
== Genetics == | == Genetics == | ||
Tangier disease is caused by mutations in the ''[[ABCA1]]'' gene, which provides instructions for making a protein that is essential for the formation of HDL. The ''ABCA1'' protein plays a critical role in the transport of cholesterol and phospholipids across cell membranes. Mutations in this gene lead to the accumulation of cholesterol in various tissues, including the [[tonsils]], [[spleen]], [[liver]], and [[bone marrow]]. | Tangier disease is caused by mutations in the ''[[ABCA1]]'' gene, which provides instructions for making a protein that is essential for the formation of HDL. The ''ABCA1'' protein plays a critical role in the transport of cholesterol and phospholipids across cell membranes. Mutations in this gene lead to the accumulation of cholesterol in various tissues, including the [[tonsils]], [[spleen]], [[liver]], and [[bone marrow]]. | ||
== Symptoms == | == Symptoms == | ||
Individuals with Tangier disease often present with: | Individuals with Tangier disease often present with: | ||
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* Atherosclerosis (build-up of fats, cholesterol, and other substances in and on the artery walls) | * Atherosclerosis (build-up of fats, cholesterol, and other substances in and on the artery walls) | ||
* Corneal opacities (clouding of the [[cornea]]) | * Corneal opacities (clouding of the [[cornea]]) | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of Tangier disease is typically based on clinical findings, family history, and laboratory tests showing very low levels of HDL cholesterol. Genetic testing can confirm the diagnosis by identifying mutations in the ''ABCA1'' gene. | Diagnosis of Tangier disease is typically based on clinical findings, family history, and laboratory tests showing very low levels of HDL cholesterol. Genetic testing can confirm the diagnosis by identifying mutations in the ''ABCA1'' gene. | ||
== Treatment == | == Treatment == | ||
There is currently no cure for Tangier disease. Treatment focuses on managing symptoms and reducing the risk of complications. This may include: | There is currently no cure for Tangier disease. Treatment focuses on managing symptoms and reducing the risk of complications. This may include: | ||
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* Medications to manage cholesterol levels and prevent atherosclerosis | * Medications to manage cholesterol levels and prevent atherosclerosis | ||
* Regular monitoring and supportive care for neuropathy and other symptoms | * Regular monitoring and supportive care for neuropathy and other symptoms | ||
== Epidemiology == | == Epidemiology == | ||
Tangier disease is extremely rare, with only a few hundred cases reported worldwide. It affects both males and females equally and can occur in any ethnic group. | Tangier disease is extremely rare, with only a few hundred cases reported worldwide. It affects both males and females equally and can occur in any ethnic group. | ||
== See also == | == See also == | ||
* [[High-density lipoprotein]] | * [[High-density lipoprotein]] | ||
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* [[Peripheral neuropathy]] | * [[Peripheral neuropathy]] | ||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
== References == | == References == | ||
{{Reflist}} | {{Reflist}} | ||
== External links == | == External links == | ||
{{Commons category|Tangier disease}} | {{Commons category|Tangier disease}} | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Cholesterol and lipoprotein disorders]] | [[Category:Cholesterol and lipoprotein disorders]] | ||
[[Category:Autosomal recessive disorders]] | [[Category:Autosomal recessive disorders]] | ||
{{medicine-stub}} | {{medicine-stub}} | ||
Latest revision as of 07:22, 6 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Tangier disease | |
|---|---|
| |
| Synonyms | Familial alpha-lipoprotein deficiency, Analphalipoproteinemia |
| Pronounce | |
| Specialty | Endocrinology, Genetics |
| Symptoms | Peripheral neuropathy, enlarged liver, enlarged spleen, orange tonsils |
| Complications | Atherosclerosis, cardiovascular disease |
| Onset | Childhood |
| Duration | Lifelong |
| Types | |
| Causes | Mutations in the ABCA1 gene |
| Risks | |
| Diagnosis | Blood test, genetic testing |
| Differential diagnosis | Hypoalphalipoproteinemia, Familial HDL deficiency |
| Prevention | |
| Treatment | Dietary management, cholesterol-lowering medications |
| Medication | |
| Prognosis | Variable, risk of cardiovascular disease |
| Frequency | Very rare |
| Deaths | |
Tangier disease
Tangier disease, also known as familial alpha-lipoprotein deficiency, is a rare inherited disorder characterized by a severe reduction in the amount of high-density lipoprotein (HDL) in the blood. HDL is often referred to as "good cholesterol" because it helps remove excess cholesterol from the bloodstream. The disease is named after Tangier Island in Virginia, where the first identified cases were discovered.
Genetics[edit]
Tangier disease is caused by mutations in the ABCA1 gene, which provides instructions for making a protein that is essential for the formation of HDL. The ABCA1 protein plays a critical role in the transport of cholesterol and phospholipids across cell membranes. Mutations in this gene lead to the accumulation of cholesterol in various tissues, including the tonsils, spleen, liver, and bone marrow.
Symptoms[edit]
Individuals with Tangier disease often present with:
- Enlarged, orange-colored tonsils
- Hepatosplenomegaly (enlarged liver and spleen)
- Peripheral neuropathy (nerve damage)
- Atherosclerosis (build-up of fats, cholesterol, and other substances in and on the artery walls)
- Corneal opacities (clouding of the cornea)
Diagnosis[edit]
Diagnosis of Tangier disease is typically based on clinical findings, family history, and laboratory tests showing very low levels of HDL cholesterol. Genetic testing can confirm the diagnosis by identifying mutations in the ABCA1 gene.
Treatment[edit]
There is currently no cure for Tangier disease. Treatment focuses on managing symptoms and reducing the risk of complications. This may include:
- Dietary modifications to reduce cholesterol intake
- Medications to manage cholesterol levels and prevent atherosclerosis
- Regular monitoring and supportive care for neuropathy and other symptoms
Epidemiology[edit]
Tangier disease is extremely rare, with only a few hundred cases reported worldwide. It affects both males and females equally and can occur in any ethnic group.
See also[edit]
References[edit]
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External links[edit]
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