Alström syndrome: the journey to diagnosis

Alström syndrome (AS) is a recessively inherited genetic condition which is ultra-rare and extremely complex. Symptoms include retinal dystrophy, nystagmus, photophobia, hearing loss, obesity, insulin resistance, diabetes and cardiomyopathy. The condition is progressive, but it is important to note that not all the complications associated with AS occur in everyone affected. Symptoms can also present at different stages, making diagnosis difficult. There are currently 88 people diagnosed with AS in the UK.

The aim of this report is to raise awareness of the key symptoms of AS, in order to promote a faster and more effective diagnosis. This involves identification of individual or a combination of 'red flag' symptoms. Overall the findings should improve the patient experience, and their long-term health outcomes.

Between August-October 2022 we conducted research into a sample of patients from the ASUK database. The process involved a combination of interviews with families, social care and education reviews. Interviews were semi-structured using open questions and a patient-centred approach.

Seventeen newly diagnosed patients were included in our sample. Only 24% of patients were diagnosed within one year following the onset of AS symptoms. Patients with visual impairment and cardiomyopathy were diagnosed much more quickly, either in infancy or early childhood. 41% of our research participants waited over 5 years for a diagnosis. Insufficient research and treatment advances can further impede the diagnostic process and limit access to therapies or clinical trials, ultimately impacting patient outcomes.

While we welcome these developments, our findings, and the evidence we have gathered in this report suggests that more needs to be done to improve the experiences of people receiving a diagnosis of AS. Obesity rapidly developing in infancy should be flagged as a key symptom to be aware of where AS is a possible diagnosis. Visual impairment (88%) in combination with cardiomyopathy (59%) is a frequent first presentation for patients with AS. Most patients (7/17) are diagnosed many years after symptom onset (5-20 years).