Health Encyclopedia

Alström syndrome

Definition

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

Causes, incidence, and risk factors

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

Signs 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/

Expectations (prognosis)

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

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.

Calling your health care provider

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.

Review Date:12/6/2006
Reviewed By:Ian Marshall, MD, Division of Pediatric Endocrinology, UMDNJ-Robert Wood Johnson Medical School, New Brunswick, NJ. Review provided by VeriMed Healthcare Network.

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