Quality of life assessment in patients with HNF1A-MODY and GCK-MODY

Abstract

Aim The impact of maturity onset diabetes of the young (MODY) on quality of life (QoL) has never been examined. We assessed disease impact on QoL among patients with HNF1A-MODY and GCK mutation carrier status. Methods The study included 80 patients with HNF1A-MODY and 89 GCK gene mutation carriers. We also examined 128 type 1 diabetes (T1DM) patients for comparison. Diabetes-specific QoL was assessed using the Audit of Diabetes Dependent Quality of Life questionnaire. Results HNF1A-MODY and GCK-MODY groups had similar mean age (41.7 vs. 38.0 years, respectively) and BMI (24.1 vs. 24.3 kg/m 2), whereas T1DM patients were on average younger (34.2 years) with similar BMI (25.0 kg/m 2). Less than a third of GCK mutation carriers were on pharmacotherapy (n = 20, 31%), while the majority of HNF1A mutation carriers used oral drugs or insulin (n = 66, 82.5%). While current QoL was similar across the three groups (p = 0.66), two other major indices-the impact of diabetes on QoL and the average weighted impact (AWI)-differed among them (p < 0.001 for both comparisons). The impact of diabetes on patient QoL and AWI observed in both MODY groups was smaller than in T1DM. Etiological diagnosis of diabetes and a diagnosis of retinopathy were the only independent factors influencing the impact of diabetes on QoL and AWI in regression analysis. In HNF1A-MODY, all three major indices of QoL were more heavily influenced for patients on insulin in comparison to other treatment subgroups. Conclusion MODY has a smaller negative impact on QoL compared to T1DM. Mode of treatment further stratifies QoL decline for HNF1A-MODY subjects.

Quality of Life and Treatment Satisfaction in Participants with Maturity-Onset Diabetes of the Young: A Comparison to Other Major Forms of Diabetes

“…Importantly, a dual diagnosis of GCK-MODY and T2D could not be excluded in all respondents. However, similar results have also been shown in Polish and British studies [8,17]. Moreover, we have shown that QoL was reduced in GCK-MODY participants treated with insulin or OHA.…”

“…The only investigated factor that influenced the AWI of diabetes-related life domains was perceived events of hypoglycaemia. Age was also reported to be an independent factor influencing QoL in GCK-MODY patients by Szopa et al, while other associated factors identified by our study (HbA1c, hypoglycaemia, hyperglycaemia) had not been tested in a previous study [17]. Perceived events of hypoglycaemia in GCK-MODY patients were revealed to be a significant factor in the analyses of QoL and treatment satisfaction.…”

“…In addition, health care professionals and individual patients have reported that the quality of life (QoL) in MODY patients is improved after the correct diagnosis and treatment are established [16]. However, only one study focusing on quality of life in GCK-MODY and HNF1A-MODY patients has been published showing smaller negative impact on QoL compared to T1D [17]. Data on QoL from subjects with HN-F4A-MODY and treatment satisfaction and the perception of the genetic test results of MODY patients are lacking.…”

NGS Analysis Revealed Digenic Heterozygous GCK and HNF1A Variants in a Child with Mild Hyperglycemia: A Case Report

“…Recognition of these forms of diabetes is crucial for reducing both the complications and the treatment costs associated with the disease, and to improve glycemic control with the most appropriate treatment and follow-up for patients [ 17 , 24 ]. In particular, HNF1A/MODY patients are generally responsive to sulfonylureas, whereas, for GCK/MODY patients, no pharmacological treatment is recommended and diet and regular physical activity are sufficient to maintain good glycemic control [ 6 , 14 ].…”

“…In fact, diabetic patients with HNF1A/MODY can avoid insulin and be treated with oral hypoglycemic agents such as sulfonylureas, to which they are particularly sensitive, whereas GCK/MODY patients, due to their mild phenotype, require less frequent clinical monitoring than patients with other forms of diabetes [ 14 , 15 ]. Therefore, molecular diagnosis of MODY may provide a perceptible impact on both the patient’s quality of life and the healthcare costs [ 16 , 17 ].…”