Alström syndrome

Definition

Alström syndrome is an inherited disease marked by blindness, deafness, diabetes, and obesity.

Causes

Alström syndrome is an autosomal recessive inherited disorder, which means that a person must inherit a copy of the defective gene from both parents in order to be affected. It is extremely rare, but is more common in Holland and Sweden than in the United States.

The mutated gene, ALMS1, has been identified, but it is not yet known how this gene causes the disorder.

Symptoms

• Blindness or severe vision impairment in infancy
• Symptoms of childhood-onset or type 2 diabetes
• Obesity
• Deafness
• Dark patches of skin (acanthosis nigricans)
• Growth retardation
• Impaired heart function (cardiomyopathy), which may lead to heart failure
• Progressive kidney failure

Occasionally, the following are also associated:

• Hypothyroidism
• Liver dysfunction
• Small penis
• Gastrointestinal reflux

Exams and Tests

An ophthalmologist will examine the eyes. The patient may have reduced vision.

Tests may be done to check:

• Triglyceride levels
• Blood sugar levels (to diagnose hyperglycemia)
• Thyroid function
• Hearing
• Heart function (echocardiogram may be abnormal)

Treatment

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

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

Support Groups

Alström Syndrome International -- www.jax.org/alstrom/

Outlook (Prognosis)

Permanent blindness, deafness, and type 2 diabetes are likely to develop. Kidney and liver failure may get worse.

Possible Complications

Complications related to diabetes can occur. Impaired heart function, if untreated, can lead to fatigue and shortness of breath. Diabetes and high cholesterol increase the risk of coronary artery disease.

When to Contact a Medical Professional

Call your health care provider if you suspect symptoms of diabetes such as increased thirst and urination. Seek medical attention promptly if you suspect that your infant or child cannot see or hear normally.