Definition

Alström syndrome is a very rare inherited disease that can lead to blindness, deafness, diabetes, and obesity.

Causes, incidence, and risk factors

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

The altered gene, ALMS1, has been found. However, it is not yet known how this gene causes the disorder.

Symptoms

• 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

Signs and tests

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

Treatment

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

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

Support Groups

Alström Syndrome International --

Expectations (prognosis)

The following are likely to develop:

• Deafness
• Permanent blindness
• Type 2 diabetes

Kidney and liver failure may get worse.

Complications

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

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.

References

Torres VE, Grantham JJ. Cystic diseases of the kidney. In: Brenner BM, ed. Brenner and Rector's The Kidney. 8th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 41.