Alström syndrome is a rare genetic problem that affects fewer than one in 500,000 people. Children with this syndrome often develop diabetes which is difficult to treat with insulin and can result in obesity.
Other parts of the body can be affected and may include; childhood blindness, deafness, bladder weakness and high levels of certain fats in the blood (hypertriglyceridaemia). Alström patients can also develop abnormal thickening of the heart muscles (fibrosing cardiomyopathy), kidney failure, liver disease (hepatic fibrosis) and problems in their glands (secondary endocrine failure).
It is important to note that not all children with Alström syndrome get all of the symptoms. Even when two siblings have the condition their symptoms can vary widely.
Our Alström service
Our Children’s Hospital is the only paediatric centre in the UK designated to screen for medical complications and provide advice on management of Alström syndrome. Our patient-centred service screens for, monitors, and provides advice on management and follow up for symptoms associated with this complex disease. Our patients are offered appointments to come to the hospital once a year where they participate in two days of clinics with an overnight stay.
During their visit children and young people are seen by many specialist teams including;
- Heart (cardiology)
- Eye (ophthalmology)
- Glands (endocrinology)
- Psychology (providing help to understanding the illness)
- Food and drink (dietetics)
- Physiotherapy (to help muscle tone and mobility)
- Family liaison officer
We also work closely with our colleagues at the Women’s Hospital to provide a national genetic testing service with genetic counselling and opportunities for diagnosis before birth (prenatal diagnosis).