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Alstrom syndrome

Alström syndrome

Definition

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

Causes

Alström syndrome is inherited in an autosomal recessive manner. This means both of 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.

Symptoms

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

Exams and Tests

An eye doctor (ophthalmologist) will examine the eyes. The person may have reduced vision.

Tests may be done to check:

Blood sugar levels (to diagnose high blood sugar or hyperglycemia)
Hearing
Heart function
Thyroid function
Triglyceride levels

Treatment

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

Diabetes medicine
Hearing aids
Heart medicine
Thyroid hormone replacement

Support Groups

Alström Syndrome International -- www.alstrom.org

Outlook (Prognosis)

The following are likely to develop:

Deafness
Permanent blindness
Type 2 diabetes

Kidney and liver failure may get worse.

Possible Complications

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 to Contact a Medical Professional

Contact 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.

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Review Date: 7/28/2022

Reviewed By: Charles I. Schwartz MD, FAAP, Clinical Assistant Professor of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, General Pediatrician at PennCare for Kids, Phoenixville, PA. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

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