Early Presentation of Diabetes in Alström Syndrome

Alström Syndrome is an extremely rare autosomal recessive genetic disorder first described by C.H. Alström in Sweden in 1959, that can affect people of all nationalities, ethnic groups, and races. So far, less than 1000 individuals with Alström Syndrome have been identified worldwide.

The condition is caused by a mutation in a gene called ALMS1 of unknown function, which is passed on through families.

The key symptoms include photophobia, nystagmus, and diminishing eyesight, loss of hearing, short stature, cardiomyopathie, kidney, and/or liver failure.

Individuals with Alström Syndrome also develop obesity and are at risk of type 2 diabetes, which fortunately can often be managed by diet and exercise alone.

A paper by Mokashi and Cummings from Dalhousie University, Halifax, Nova Scotia, Canada, published in the latest edition of Pediatric Diabetes, describes the presentation and course of diabetes in children and adolescents with Alström syndrome.

Their retrospective analysis of data on seven children with Alström syndrome, aged 4.5-22 yrs, include five that were diagnosed with diabetes at a median age of 11.5 yr.

Interestingly, at diagnosis of diabetes, mean fasting blood glucose levels were normal, but random or oral glucose tolerance test (OGTT) values were markedly elevated, consistent with a diagnosis of diabetes mellitus.

They also describe two patients, who had poor diabetes control on high-dose insulin, that actually improved after the patients were taken off insulin.

Based on their findings, the authors suggest that the diagnosis of diabetes may be missed if screening is performed with fasting blood glucose alone and clinicians should consider performing oral glucose tolerance tests in Alström patients annually from age six onwards.

Clinicians should also be aware that increasing insulin doses in poorly controlled Alström patients may be ineffective in improving glycemic control.

More information on Alström Syndrome can be found here.

AMS
Edmonton, Alberta

Mokashi A, & Cummings EA (2011). Presentation and course of diabetes in children and adolescents with Alstrom syndrome. Pediatric diabetes, 12 (3 Pt 2), 270-5 PMID: 21518413