Alstrom syndrome (patient information): Difference between revisions
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==What are the symptoms of Alstrom syndrome?== | ==What are the symptoms of Alstrom syndrome?== | ||
* Blindness or severe vision impairment in infancy | * [[Blindness]] or severe [[vision impairment]] in infancy | ||
* Dark patches of skin (acanthosis nigricans) | * Dark patches of skin ([[acanthosis nigricans]]) | ||
* Deafness | * [[Deafness]] | ||
* Impaired heart function (cardiomyopathy), which may lead to heart failure | * Impaired heart function ([[cardiomyopathy]]), which may lead to [[heart failure]] | ||
* Obesity | * [[Obesity]] | ||
* Progressive kidney failure | * Progressive [[kidney failure]] | ||
* Slowed growth | * [[Slowed growth]] | ||
* Symptoms of childhood-onset or type 2 diabetes | * Symptoms of childhood-onset or [[type 2 diabetes]] | ||
Occasionally, the following can also occur: | Occasionally, the following can also occur: | ||
* Gastrointestinal reflux | * [[Gastrointestinal reflux]] | ||
* Hypothyroidism | * [[Hypothyroidism]] | ||
* Liver dysfunction | * Liver dysfunction | ||
* Small penis | * Small penis | ||
==What causes Alstrom syndrome?== | ==What causes Alstrom syndrome?== | ||
Alström syndrome is inherited in an autosomal recessive manner. This means both your parents must pass on a copy of the defective gene (ALMSI) in order for you to have this disease. It is unknown how the defective gene causes the disorder. The condition is extremely rare. It is more common in Holland and Sweden than in the United States. | Alström syndrome is inherited in an [[autosomal recessive]] manner. This means both your parents must pass on a copy of the defective gene ([[ALMSI]]) in order for you to have this disease. It is unknown how the defective gene causes the disorder. The condition is extremely rare. It is more common in Holland and Sweden than in the United States. | ||
==Diagnosis== | ==Diagnosis== | ||
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Tests may be done to check: | Tests may be done to check: | ||
* Blood sugar levels (to diagnose hyperglycemia) | * Blood sugar levels (to diagnose [[hyperglycemia]]) | ||
* Hearing | * [[Hearing]] | ||
* Heart function | * Heart function | ||
* Thyroid function | * Thyroid function | ||
* Triglyceride levels | * [[Triglyceride]] levels | ||
==When to seek urgent medical care?== | ==When to seek urgent medical care?== | ||
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==Treatment options== | ==Treatment options== | ||
There is no specific treatment for this syndrome. Treatment for symptoms may include: | There is no specific treatment for this syndrome. Treatment for symptoms may include: | ||
* Diabetes medication | * [[Diabetes]] medication | ||
* Hearing | * [[Hearing aid]]s | ||
* Heart medications | * Heart medications | ||
* Thyroid hormone replacement | * [[Thyroid hormone]] replacement | ||
==Where to find medical care for Alstrom syndrome?== | ==Where to find medical care for Alstrom syndrome?== | ||
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==What to expect (Outlook/Prognosis)?== | ==What to expect (Outlook/Prognosis)?== | ||
The following are likely to develop: | The following are likely to develop: | ||
* [[Deafness]] | |||
* Deafness | |||
* Permanent blindness | * Permanent blindness | ||
* [[Type 2 diabetes]] | |||
* Type 2 diabetes | |||
* Kidney and liver failure may get worse. | * Kidney and liver failure may get worse. | ||
==Possible complications== | ==Possible complications== | ||
* Complications from diabetes | * Complications from diabetes | ||
* [[Coronary artery disease]] (from diabetes and [[high cholesterol]]) | |||
* Coronary artery disease (from diabetes and high cholesterol) | * [[Fatigue]] and [[shortness of breath]] (if poor heart function isn't treated) | ||
* Fatigue and shortness of breath (if poor heart function isn't treated) | |||
==Sources== | ==Sources== | ||
Revision as of 17:42, 21 February 2013
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Alstrom syndrome |
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Alstrom syndrome On the Web |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2]
Overview
Alström syndrome is a very rare disease passed down through families (inherited) that can lead to blindness, deafness, diabetes, and obesity.
What are the symptoms of Alstrom syndrome?
- Blindness or severe vision impairment in infancy
- Dark patches of skin (acanthosis nigricans)
- Deafness
- Impaired heart function (cardiomyopathy), which may lead to heart failure
- Obesity
- Progressive kidney failure
- Slowed growth
- Symptoms of childhood-onset or type 2 diabetes
Occasionally, the following can also occur:
- Gastrointestinal reflux
- Hypothyroidism
- Liver dysfunction
- Small penis
What causes Alstrom syndrome?
Alström syndrome is inherited in an autosomal recessive manner. This means both your parents must pass on a copy of the defective gene (ALMSI) in order for you to have this disease. It is unknown how the defective gene causes the disorder. The condition is extremely rare. It is more common in Holland and Sweden than in the United States.
Diagnosis
An eye doctor (ophthalmologist) will examine the eyes. The patient may have reduced vision.
Tests may be done to check:
- Blood sugar levels (to diagnose hyperglycemia)
- Hearing
- Heart function
- Thyroid function
- Triglyceride levels
When to seek urgent medical care?
Call your health care provider if you or your child have symptoms of diabetes such as increased thirst and urination. Seek medical attention promptly if you think that your child cannot see or hear normally.
Treatment options
There is no specific treatment for this syndrome. Treatment for symptoms may include:
- Diabetes medication
- Hearing aids
- Heart medications
- Thyroid hormone replacement
Where to find medical care for Alstrom syndrome?
Directions to Hospitals Treating Alstrom syndrome
What to expect (Outlook/Prognosis)?
The following are likely to develop:
- Deafness
- Permanent blindness
- Type 2 diabetes
- Kidney and liver failure may get worse.
Possible complications
- Complications from diabetes
- Coronary artery disease (from diabetes and high cholesterol)
- Fatigue and shortness of breath (if poor heart function isn't treated)