What is the definition of Alstrom Syndrome?

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

What are the causes for 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 very rare.

What are the symptoms for Alstrom Syndrome?

Common symptoms of this condition are:

• 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 are the current treatments for Alstrom Syndrome?

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

• Diabetes medicine
• Hearing aids
• Heart medicine
• Thyroid hormone replacement

What are the support groups for Alstrom Syndrome?

Alström Syndrome International -- www.alstrom.org

What is the outlook (prognosis) for Alstrom Syndrome?

The following are likely to develop:

• Deafness
• Permanent blindness
• Type 2 diabetes

Kidney and liver failure may get worse.

What are the possible complications for Alstrom Syndrome?

Possible complications are:

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

When should I contact a medical professional for Alstrom Syndrome?

Call your health care provider if you or your child has symptoms of diabetes. Common symptoms of diabetes are increased thirst and urination. Seek medical attention right away if you think that your child cannot see or hear normally.

REFERENCES

Farooqi IS, O'Rahilly S. Genetic syndromes associated with obesity. In: Jameson JL, De Groot LJ, de Kretser DM, et al, eds. Endocrinology: Adult and Pediatric. 7th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 28.

Freund KB, Sarraf D, Mieler WF, Yannuzzzi LA. Hereditary chorioretinal dystrophies. In: Freund KB, Sarraf D, Mieler WF, Yannuzzi LA, eds. The Retinal Atlas. 2nd ed. Philadelphia, PA: Elsevier; 2017:chap 2.

Torres VE, Harris PC. Cystic diseases of the kidney. In: Yu ASL, Chertow GM, Luyckx VA, Marsden PA, Skorecki K, Taal MW, eds. Brenner and Rector's The Kidney. 11th ed. Philadelphia, PA: Elsevier; 2020:chap 45.