Alstrom syndrome (patient information)
For the WikiDoc page for Alstrom syndrome, click here
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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 (ALMS1) 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)