Alström Syndrome
Q: What is Alström Syndrome?
Alström Syndrome is a rare genetically inherited syndrome which has a number of common features.
Q: What are the features of Alström Syndrome?
Retinal degeneration
This is often the first feature of Alström Syndrome that is noticed. Children have nystagmus (wobbly eyes) and photophobia (extreme sensitivity to light). Poor vision can be present even in small babies, and gradual vision loss can lead to blindness.
Hearing loss
This is usually noticed before the age of 10. The severity of hearing loss in Alström Syndrome varies considerably.
Cardiomyopathy
This means that the heart doesn’t pump as well as it should. It can improve, although not completely, and it can recur in later life.
Obesity
Children and young people with Alström syndrome have a lower energy requirement and generally are less active compared with their peer group and as a result have a higher risk of obesity. This weight gain tends to be less severe in later life
Type 2 diabetes
In young adulthood, children with Alström Syndrome tend to become resistant to insulin, and can go on to develop Type 2 diabetes. High blood fat levels are also common in people with insulin resistance.
Renal (kidney) failure
This might be acute (happening quickly) or chronic (happening over a long period of time). There are a number of reasons why the kidneys fail; one of these is diabetes.
Orthopaedic and rheumatology problems
People with Alström Syndrome can have problems with their bones and joints. These include curvature of the spine, spondylitis (excessive thickening of the spine), arthritis and short stature.
Other problems such as hypogonadism (defects of the reproductive system), undescended testes, low testosterone, polycystic ovaries under-active thyroid and acanthosis nigricans (dark patches of skin) may also be present.
Q: How is it treated?
There isn’t a cure for Alström Syndrome but there are treatments for some of the features.
Sensitivity to bright light can be helped by wearing dark glasses, which may also slow down retinal degeneration as well. Hearing aids can be helpful in managing hearing loss. A number of drugs can be used to treat cardiomyopathy, including digoxin, frusemide and ACE inhibitors. Following a healthy balanced low energy diet and taking regular physical activity are important to keep weight under control and will usually be the first treatment for Type 2 diabetes.
Medications such as metformin, sulphonylureas and insulin can be used to treat Type 2 diabetes if weight management and physical activity are unsuccessful. The treatment for renal (kidney) failure depends on how well the kidneys are working, but dialysis and kidney transplants are available should they fail completely. Physical activity, stretching exercises, and massage can help with bone and joint problems.
Q: How common is Alström Syndrome?
Alström Syndrome is very rare, and estimates suggest there are only around 700 people diagnosed with it worldwide. But Alström UK (the charity for people affected by Alström Syndrome) estimate that up to 200 families in the UK may be affected, but because of its rarity many have not been identified.
Q: Where can I go for more information?
www.alstrom.org.uk
Specialist Alström clinics take place at Birmingham Children’s Hospital and Torbay Hospital in Devon.