Patient information sheet for Alström syndrome
What is Alström Syndrome?
A syndrome is the name given to a condition where features occur in a consistent pattern, and where the cause is not understood. Alström syndrome is named after a Dr Alström, who in 1959 described several families with affected people in Sweden. Since then over 200 patients have been described in the world medical literature.
How common is it?
Alström syndrome affects less than 1 in 500,000 people, so it is very rare. A specialist physician may only see one affected child in a professional lifetime.
What may happen in the condition?
Children may develop early onset obesity, which unfortunately is often blamed on a poor diet. It is however part of the condition. This can lead on to fatty liver disease in late childhood.
Some babies develop severe heart failure early in infancy. Fortunately this often resolves, but heart problems may become a feature again in late teenage years or early adulthood.
Retinal Dystrophy means abnormalities of the rods and cones at the back of the eye. Symptoms often present as ‘wobbly eyes’ in infancy, and often the light hurts the eyes. There is unfortunately no treatment for this.
Diabetes mellitus is the name given when the body cannot convert glucose or sugar to energy, because the insulin from the pancreas is not working effectively. Symptoms include thirst and frequent passing of urine, and weight loss. Glucose is passed out in the urine, and blood tests show a high level of glucose in the blood. This usually needs treatment with tablets or insulin injections.
Deafness usually means difficulty in hearing in a crowded room, and difficulty hearing high pitched sounds. Some people are helped with a hearing aid.
Renal problems include some weakness in bladder function, so people may have accidents. Some adults develop chronic renal failure and may need treatment for this.
How do I tell if my child has the condition?
Usually children present with retinal dystrophy and early onset obesity. If a young person does not have retinal dystrophy by early childhood, he/she is unlikely to have Alstrom syndrome. However, the diagnosis is sometimes missed and can be made much later.
What is the outlook for a child with Alström syndrome?
The diabetes mellitus can be controlled with insulin injections. The vision problems usually, but not always, get worse, and often a person may be registered blind by the teenage years. Many young people get deafness, in the teenage years. Many also get renal problems in their twenties and need treatment for this.
What are the chances of having another affected child?
Alström syndrome is inherited as an autosomal recessive condition; this means that both parents carry one abnormal copy of the Alström gene, and one normal copy. For a child to be affected, he/she has to inherit two abnormal copies, one from each parent. The chances of parents having another affected child are about 25%. It is possible to test if an unborn child is affected during pregnancy.
Will there be a cure for Alström syndrome?
Any cure is a long way off. The current research is to understand why mistakes in the Alström gene cause the syndrome. There are research groups in America and UK, all investigating this problem.
Who can I go to for help?
There is a UK Alström syndrome website where you can register and contact other families affected all over the world (http://www.alstrom.org.uk ). There is also a good review in Gene Reviews (http://www.ncbi.nlm.nih.gov/books/NBK1267/). It is also very important that you show this leaflet to your doctor so that he knows what information you have. If you have any questions about the information in this leaflet, please write to me and I will try and answer.
This information leaflet is a draft until a more detailed and definitive leaflet is developed as part of the EURO-WABB project
Dr Timothy G Barrett
Professor of Paediatrics
C/O Diabetes Unit
Birmingham Children’s Hospital
Steelhouse Lane Birmingham B4 6NH