Alstrom syndrome (patient information)

Alström syndrome is a very rare disease passed down through families (inherited) that can lead to blindness, deafness, diabetes, and obesity.

• 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

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.

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

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.

There is no specific treatment for this syndrome. Treatment for symptoms may include:

• Diabetes medication
• Hearing aids
• Heart medications
• Thyroid hormone replacement

Directions to Hospitals Treating Alstrom syndrome

The following are likely to develop:

• Deafness
• Permanent blindness
• Type 2 diabetes
• Kidney and liver failure may get worse.

• Complications from diabetes
• Coronary artery disease (from diabetes and high cholesterol)
• Fatigue and shortness of breath (if poor heart function isn’t treated)

http://www.nlm.nih.gov/medlineplus/ency/article/001665.htm

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