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.
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.
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
- 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.
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
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
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.