Alström syndrome: The Journey to Diagnosis

Background: 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, cardiomyopathy and can affect the liver and kidneys and result in other associated complications. 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. Prevalence is thought to be around 1 in a million and there are currently 88 people diagnosed with AS in the UK Results: Only 18% of patients were diagnosed between the age of 3 months and 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. Patients with visual impairment and no other obvious symptoms waited longer for an AS diagnosis. 41% of our research participants waited over 5 years for a diagnosis and the Covid-19 pandemic further exacerbated this leading to more delays and missed diagnostic opportunities. The speed at which patients are diagnosed clearly needs to be improved. Lack of research and treatment advances: the lack of awareness about Alström syndrome can contribute to limited research efforts and funding for the condition. Insufficient research and treatment advances can further impede the diagnostic process and limit access to therapies or clinical trials, ultimately impacting patient outcomes. Conclusion: 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 that rapidly develops in infancy should be flagged as a key symptom to be aware of where Alström syndrome is a possible diagnosis. Visual impairment in combination with cardiomyopathy is a frequent first presentation for patients with AS. Being alert to this and forming standardised pathways should improve the diagnostic odyssey for patients and families affected by AS.