Cerebrotendinous xanthomatosis: Difference between revisions
From WikiMD's Wellness Encyclopedia
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{{Infobox medical condition | |||
| name = Cerebrotendinous xanthomatosis | |||
| image = [[File:Autosomal_recessive_-_en.svg|200px]] | |||
| caption = Cerebrotendinous xanthomatosis is inherited in an [[autosomal recessive]] pattern. | |||
| synonyms = CTX | |||
| pronounce = | |||
| specialty = [[Neurology]], [[Endocrinology]], [[Genetics]] | |||
| symptoms = [[Cataracts]], [[tendon xanthomas]], [[neurological dysfunction]] | |||
| onset = Childhood to early adulthood | |||
| duration = Lifelong | |||
| causes = Mutations in the ''[[CYP27A1]]'' gene | |||
| risks = Family history | |||
| diagnosis = [[Genetic testing]], [[biochemical testing]] | |||
| differential = [[Familial hypercholesterolemia]], [[sitosterolemia]] | |||
| treatment = [[Chenodeoxycholic acid]], [[statins]], [[surgery]] for cataracts | |||
| medication = | |||
| prognosis = Variable, depends on early diagnosis and treatment | |||
| frequency = Rare | |||
| deaths = | |||
}} | |||
{{Short description|A rare genetic disorder affecting cholesterol metabolism}} | {{Short description|A rare genetic disorder affecting cholesterol metabolism}} | ||
'''Cerebrotendinous xanthomatosis''' (CTX) is a rare [[autosomal recessive]] [[genetic disorder]] characterized by the abnormal storage of [[cholesterol]] and [[cholestanol]] in various tissues, leading to a range of clinical manifestations. This condition is caused by mutations in the [[CYP27A1]] gene, which encodes the enzyme sterol 27-hydroxylase, crucial for the normal metabolism of cholesterol. | '''Cerebrotendinous xanthomatosis''' (CTX) is a rare [[autosomal recessive]] [[genetic disorder]] characterized by the abnormal storage of [[cholesterol]] and [[cholestanol]] in various tissues, leading to a range of clinical manifestations. This condition is caused by mutations in the [[CYP27A1]] gene, which encodes the enzyme sterol 27-hydroxylase, crucial for the normal metabolism of cholesterol. | ||
==Pathophysiology== | ==Pathophysiology== | ||
CTX results from a deficiency in the enzyme sterol 27-hydroxylase, which is involved in the conversion of cholesterol to bile acids. The lack of this enzyme leads to the accumulation of cholestanol and cholesterol in various tissues, including the brain, tendons, and lungs. This accumulation causes the formation of [[xanthomas]], which are cholesterol-rich deposits, and contributes to neurological and systemic symptoms. | CTX results from a deficiency in the enzyme sterol 27-hydroxylase, which is involved in the conversion of cholesterol to bile acids. The lack of this enzyme leads to the accumulation of cholestanol and cholesterol in various tissues, including the brain, tendons, and lungs. This accumulation causes the formation of [[xanthomas]], which are cholesterol-rich deposits, and contributes to neurological and systemic symptoms. | ||
==Clinical Features== | ==Clinical Features== | ||
The clinical presentation of CTX is highly variable, but common features include: | The clinical presentation of CTX is highly variable, but common features include: | ||
* '''Neurological symptoms''': Progressive [[cognitive decline]], [[ataxia]], [[seizures]], and [[peripheral neuropathy]]. | * '''Neurological symptoms''': Progressive [[cognitive decline]], [[ataxia]], [[seizures]], and [[peripheral neuropathy]]. | ||
* '''Tendon xanthomas''': These are cholesterol deposits that typically occur in the [[Achilles tendon]] and other tendons. | * '''Tendon xanthomas''': These are cholesterol deposits that typically occur in the [[Achilles tendon]] and other tendons. | ||
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* '''Diarrhea''': Chronic diarrhea is a common gastrointestinal symptom. | * '''Diarrhea''': Chronic diarrhea is a common gastrointestinal symptom. | ||
* '''Skeletal abnormalities''': Osteoporosis and other bone-related issues may occur. | * '''Skeletal abnormalities''': Osteoporosis and other bone-related issues may occur. | ||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis of CTX is based on clinical evaluation, biochemical testing, and genetic analysis. Key diagnostic tests include: | Diagnosis of CTX is based on clinical evaluation, biochemical testing, and genetic analysis. Key diagnostic tests include: | ||
* '''Biochemical tests''': Elevated levels of cholestanol in the blood and cerebrospinal fluid. | * '''Biochemical tests''': Elevated levels of cholestanol in the blood and cerebrospinal fluid. | ||
* '''Genetic testing''': Identification of mutations in the [[CYP27A1]] gene. | * '''Genetic testing''': Identification of mutations in the [[CYP27A1]] gene. | ||
* '''Imaging studies''': [[MRI]] of the brain may show characteristic changes such as white matter abnormalities. | * '''Imaging studies''': [[MRI]] of the brain may show characteristic changes such as white matter abnormalities. | ||
==Treatment== | ==Treatment== | ||
The primary treatment for CTX is the administration of [[chenodeoxycholic acid]] (CDCA), which helps to normalize bile acid synthesis and reduce the accumulation of cholestanol. Early treatment can significantly improve symptoms and prevent disease progression. Additional treatments may include statins to lower cholesterol levels and supportive therapies for neurological symptoms. | The primary treatment for CTX is the administration of [[chenodeoxycholic acid]] (CDCA), which helps to normalize bile acid synthesis and reduce the accumulation of cholestanol. Early treatment can significantly improve symptoms and prevent disease progression. Additional treatments may include statins to lower cholesterol levels and supportive therapies for neurological symptoms. | ||
==Prognosis== | ==Prognosis== | ||
With early diagnosis and treatment, individuals with CTX can have a significantly improved quality of life. However, if left untreated, the disease can lead to severe neurological impairment and reduced life expectancy. | With early diagnosis and treatment, individuals with CTX can have a significantly improved quality of life. However, if left untreated, the disease can lead to severe neurological impairment and reduced life expectancy. | ||
==Genetics== | ==Genetics== | ||
CTX is inherited in an [[autosomal recessive]] manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to develop the disease. Carriers, who have only one copy of the mutation, typically do not show symptoms. | CTX is inherited in an [[autosomal recessive]] manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to develop the disease. Carriers, who have only one copy of the mutation, typically do not show symptoms. | ||
==See also== | |||
== | |||
* [[Xanthoma]] | * [[Xanthoma]] | ||
* [[Cholesterol metabolism]] | * [[Cholesterol metabolism]] | ||
* [[Genetic disorders]] | * [[Genetic disorders]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Metabolic disorders]] | [[Category:Metabolic disorders]] | ||
[[Category:Neurological disorders]] | [[Category:Neurological disorders]] | ||
Latest revision as of 21:17, 4 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
| Cerebrotendinous xanthomatosis | |
|---|---|
| |
| Synonyms | CTX |
| Pronounce | |
| Specialty | Neurology, Endocrinology, Genetics |
| Symptoms | Cataracts, tendon xanthomas, neurological dysfunction |
| Complications | N/A |
| Onset | Childhood to early adulthood |
| Duration | Lifelong |
| Types | N/A |
| Causes | Mutations in the CYP27A1 gene |
| Risks | Family history |
| Diagnosis | Genetic testing, biochemical testing |
| Differential diagnosis | Familial hypercholesterolemia, sitosterolemia |
| Prevention | N/A |
| Treatment | Chenodeoxycholic acid, statins, surgery for cataracts |
| Medication | |
| Prognosis | Variable, depends on early diagnosis and treatment |
| Frequency | Rare |
| Deaths | |
A rare genetic disorder affecting cholesterol metabolism
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive genetic disorder characterized by the abnormal storage of cholesterol and cholestanol in various tissues, leading to a range of clinical manifestations. This condition is caused by mutations in the CYP27A1 gene, which encodes the enzyme sterol 27-hydroxylase, crucial for the normal metabolism of cholesterol.
Pathophysiology[edit]
CTX results from a deficiency in the enzyme sterol 27-hydroxylase, which is involved in the conversion of cholesterol to bile acids. The lack of this enzyme leads to the accumulation of cholestanol and cholesterol in various tissues, including the brain, tendons, and lungs. This accumulation causes the formation of xanthomas, which are cholesterol-rich deposits, and contributes to neurological and systemic symptoms.
Clinical Features[edit]
The clinical presentation of CTX is highly variable, but common features include:
- Neurological symptoms: Progressive cognitive decline, ataxia, seizures, and peripheral neuropathy.
- Tendon xanthomas: These are cholesterol deposits that typically occur in the Achilles tendon and other tendons.
- Juvenile cataracts: Early onset cataracts are often one of the first signs of the disease.
- Diarrhea: Chronic diarrhea is a common gastrointestinal symptom.
- Skeletal abnormalities: Osteoporosis and other bone-related issues may occur.
Diagnosis[edit]
Diagnosis of CTX is based on clinical evaluation, biochemical testing, and genetic analysis. Key diagnostic tests include:
- Biochemical tests: Elevated levels of cholestanol in the blood and cerebrospinal fluid.
- Genetic testing: Identification of mutations in the CYP27A1 gene.
- Imaging studies: MRI of the brain may show characteristic changes such as white matter abnormalities.
Treatment[edit]
The primary treatment for CTX is the administration of chenodeoxycholic acid (CDCA), which helps to normalize bile acid synthesis and reduce the accumulation of cholestanol. Early treatment can significantly improve symptoms and prevent disease progression. Additional treatments may include statins to lower cholesterol levels and supportive therapies for neurological symptoms.
Prognosis[edit]
With early diagnosis and treatment, individuals with CTX can have a significantly improved quality of life. However, if left untreated, the disease can lead to severe neurological impairment and reduced life expectancy.
Genetics[edit]
CTX is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to develop the disease. Carriers, who have only one copy of the mutation, typically do not show symptoms.
