Alstrom Syndrome

Written by Janet Barwell and Elizabeth Boskey, PhD | Published on July 16, 2012
Medically Reviewed by George Krucik, MD

What Is Alstrom Syndrome?

Alstrom syndrome is a genetic disorder. It causes a range of medical conditions. Mutations of a single gene, ALMS1, can cause over 100 diseases.

Symptoms of the syndrome first appear in infancy and worsen over time. Multiple organ disorders may start in childhood. Many of the medical conditions seen in children with this condition are more often found in older adults.

Alstrom syndrome is very rare. It affects only a few hundred people in the world. Most people with this condition live in the U.S., Canada, England, Sweden, and Holland.

What Causes Alstrom Syndrome?

This condition is caused by mutations in a single gene, ALMS1. It is autosomally recessive. This means that you must receive the mutated gene from both parents to have symptoms. People with only one copy of the gene are usually healthy.

Men and women have the same risk of developing this condition.

What Are the Symptoms of Alstrom Syndrome?

Alstrom syndrome is associated with a number of health problems, including:

  • extreme light sensitivity
  • nystagmus (rapid involuntary eye movements)
  • early childhood obesity
  • progressive hearing loss in both ears
  • cardiomyopathy
  • frequent bronchial infections and pulmonary illnesses
  • insulin resistance
  • type 2 diabetes mellitus
  • liver disease, cirrhosis, and/or liver failure
  • high lipid levels
  • enlarged liver and spleen
  • kidney disease, including kidney failure

Most children with this condition have normal intelligence. However, some may miss early development milestones. Not all patients develop all symptoms. Symptoms vary from person to person.

What Tests Are Used to Diagnose Alstrom Syndrome?

One of the earliest signs of this condition is extreme sensitivity to light. Parents may also notice rapid and involuntary eye movements in children. Diagnosis is generally made from the family’s medical history when a child has multiple serious medical conditions. It can be confirmed through genetic testing.

People with this condition need regular medical tests. These tests can help determine which organs are affected by the condition. The Alstrom Foundation publishes screening guidelines on their website. Recommended tests include:

  • vision exams starting in early childhood, with a focus on early identification of cataracts
  • yearly hearing tests
  • annual tests for thyroid function and sonography of the thyroid gland
  • regular lung exams
  • heart examinations every six months, including exercise electrocardiogram and echocardiography
  • Holter monitoring every 2-3 years
  • checking the esophagus for signs of damage from reflux disease
  • yearly liver testing, including liver sonography, ALT, AST, and GGT lab tests
  • testing and treatment for high blood pressure
  • yearly evaluation of pancreatic function
  • fasting blood glucose tests every 2-3 months
  • kidney function tests every 6 months
  • reproductive exans at least once a year, or as needed
  • regular neurological exams, particularly in patients with seizures

Other steps they recommend to improve prognosis include:

  • aggressive treatment of any pulmonary illness
  • yearly influenza vaccines
  • vaccination for measles, rubella, chicken pox, and pertussis
  • hepatitis A and B vaccines
  • healthy diet and exercise

How Is Alstrom Syndrome Treated?

There is no specific treatment for Alstrom syndrome. Treatment is focused on the problems caused by the defective gene. Treatments for some of the more common effects include:

  • tinted prescription lenses for light sensitivity
  • weight control and exercise
  • hearing aids
  • treatment for cardiac congestion
  • treatment for diabetes or insulin resistance
  • high dose statins to control cholesterol
  • hormone treatment for reproductive or thyroid problems
  • aggressive treatment of any lung infections or bronchitis

What Is the Prognosis for Alstrom Syndrome?

The prognosis of Alstrom syndrome varies widely. Every person with the syndrome gets a different set of disorders. However, life expectancy with the condition is generally reduced. Patients rarely live past 50.

Was this article helpful? Yes No

Thank you.

Your message has been sent.

We're sorry, an error occurred.

We are unable to collect your feedback at this time. However, your feedback is important to us. Please try again later.

Article Sources:

  • Clinical Features of Alstrom Syndrome. (n.d.). Alstrom Syndrome International. Retrieved April 12, 2012, from http://www.alstrom.org/professionals/clinical_features.html
  • Marshall, J.D. (2011, May) Alstrom Syndrome: Genetics and Clinical Overview. Curr Genomics. 12(3): 225–235. Retrieved April 12, 2012, from http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3137007/

More on Healthline

Lifestyle Changes to Help Manage COPD
Lifestyle Changes to Help Manage COPD
Leading a healthy lifestyle can make a big difference in your COPD symptoms. Learn more about basic changes that will make it easier to manage your COPD.
The Best Multiple Sclerosis iPhone and Android Apps of the Year
The Best Multiple Sclerosis iPhone and Android Apps of the Year
These best multiple sclerosis apps provide helpful information and tools to keep track of your symptoms, including medication reminders.
Common Asthma Triggers and How to Avoid Them
Common Asthma Triggers and How to Avoid Them
Learn about some of the most common triggers for asthma, as well as measures you can take to minimize your risk of exposure, symptoms, and flares.
Easy Ways to Conceal an Epinephrine Shot
Easy Ways to Conceal an Epinephrine Shot
Learn how to discreetly carry your epinephrine autoinjectors safely and discreetly. It’s easier than you think to keep your shots on hand when you’re on the go.
Beyond Back Pain: 5 Warning Signs of Ankylosing Spondylitis
Beyond Back Pain: 5 Warning Signs of Ankylosing Spondylitis
There are a number of potential causes of back pain, but one you might not know about is ankylosing spondylitis (AS). Find out five warning signs of AS in this slideshow.
Advertisement
Advertisement
Advertisement