According to a recent study, patients with Prader-Willi syndrome (PWS) have an increased risk of developing type 2 diabetes during their transition to adulthood, especially if they are severely obese and / or have rapid weight gain.

“These results underscore the need for early identification of patients at risk, prevention of obesity and repeated blood sugar levels. [sugar] monitoring during the transition period, ”the researchers wrote.

The study, “Diabetes mellitus in Prader-Willi syndrome: natural history during the transition from childhood to adulthood in a cohort of 39 patients,Was published in the Journal of Clinical Medicine.

PWS is a genetic disease characterized by multiple developmental, nutritional, endocrine, metabolic, and behavioral issues that manifest over the course of a patient’s lifetime. Obesity and type 2 diabetes are two conditions often associated with PWS.

In fact, it is estimated that type 2 diabetes affects 20 to 25% of adults with PWS, compared to 5 to 7% of the general population. And data exposure that obesity and its complications are the most common cause of death in PWS.

Research, however, suggests that the disease mechanisms causing diabetes in PWS may be different from those seen in common obesity.

Today, researchers in France have studied the onset of type 2 diabetes in adolescents and young adults – patients under the age of 25 – with PWS, and have tried to identify factors associated with the disease. that could potentially help in the detection and prevention of diabetes early.

In total, the team examined 39 patients followed in the French network of PWS referral centers, whose data were collected between July 2020 and April 2021. The members of the group ranged from 13.9 to 47.7 years old, with a median age of 25.6 years; 56.4% of patients (22) were women.

All patients had a genetically confirmed diagnosis of PWS, which was made at a median age of 29 months, or approximately 2.5 years. They were also diagnosed with type 2 diabetes mellitus before the age of 25. At the time of the study, patients had a median duration of diabetes of 9.9 years.

Regarding obesity, most of the patients were classified as severely as well. From the age of 15, most patients had a body mass index or BMI – a measure of body fat based on height and weight – consistently above 30 kilograms per body square meter (kg / m2), a value which indicates obesity. Note that normal BMI generally ranges from 18.5 to 24.9, with overweight being classified as values ​​of 25 to 29.9; scores 30 and above are considered obese.

Between the ages of 15 and 20, as they transitioned from childhood to adulthood, these patients experienced a median 6 point gain in BMI, indicating an extreme increase in body mass and fat.

Notably, weight and diabetes were also issues for family members of the patients.

Type 2 diabetes had been diagnosed in at least one parent for more than a third of the patients, while more than half of the parents of these people were overweight or obese.

“The prevalence of T2DM [type 2 diabetes] (34.5%) and overweight (53.6%) were higher in the relatives of our patients than is usually described in the general population, “the researchers wrote, adding that these results” suggest that a history of familial T2DM warrants close monitoring to detect the early onset of T2DM in this population, especially during the transition period.

The median age at diagnosis of diabetes was 16.8 years, with a range of 11 to 24 years. On average, the patients’ fasting glucose levels (blood sugar level) were 7 millimoles per liter (mmol / L), while a normal level is below 5.6 mmol / L.

Additionally, at the time of diagnosis, patients’ median HbA1c – a measure of hemoglobin with attached glucose (sugar), which indicates average levels of glucose (sugar) in the blood – was 8.9%. The normal range of HbA1c is between 4% and 5.6%.

According to the researchers, all patients were taking an average of one diabetes medication at the time of diagnosis and three at the last follow-up.

A majority of patients, 70.3%, required insulin treatment as soon as their diabetes was diagnosed. Eight had to continue insulin treatment after the age of 18 and into adulthood, “reflecting both the severity of their diabetes and the difficulty in managing these patients with oral anti-diabetic drugs. alone, ”the researchers wrote.

“In most cases, diabetes was difficult to control, with great inter-individual variability in HbA1c and fasting blood sugar,” the team added, noting that “this further suggests that diabetes in young people patients with PWS has somewhat atypical T2DM.

Coexisting endocrine diseases were comparable between patients with diabetes and the general population of patients with PWS. However, there was an increase in coexisting metabolic and psychiatric conditions, with 47.4% of patients treated with antipsychotic drugs at the time of the study.

“In general, patients with severe behavioral problems or psychotic disorders are more difficult to manage in terms of diet, resulting in poor weight control,” the researchers wrote. “In addition, the antipsychotic treatments often prescribed in these cases can worsen weight gain and the metabolic syndrome and contribute to the development of T2DM.”

The team also looked at the differences between patients with PWS treated with growth hormone in childhood versus those who were not. No significant difference in BMI and metabolic complications was found between the 21 patients treated with growth hormone and the 15 untreated patients.

Overall, based on the results, the team concluded that “patients with PWS who are at risk of developing early T2DM are those who are severely obese – especially those who experience rapid and uncontrolled weight gain in the body. adolescence, regardless of whether they have been treated with GH [growth hormone]. “

“Adolescents suffering from obesity and severe co-morbidities [co-existing diseases], both psychiatric and metabolic, and / or a parental history of overweight or T2DM [type 2 diabetes mellitus], should be closely monitored for glucose metabolism, especially when their BMI is rising rapidly, ”the team added.