Searchable abstracts of presentations at key conferences in endocrinology
Endocrine Abstracts (2015) 37 EP355 | DOI: 10.1530/endoabs.37.EP355

ECE2015 Eposter Presentations Diabetes (pathiophysiology & epitemiology) (80 abstracts)

Optimal glycaemic control and a low rate of micro and macrovascular complications in patients with HNF1A–MODY treated in a dedicated tertiary referral centre

Siobhán Bacon , Ma Peyh Kyithar , Ailbhe McCarthy , Marie Burke & Maria Byrne


Mater Misericordiae University Hospital, Eccles St, Dublin 7, Ireland.


Objective: HNF1A gene mutations are the most common cause of monogenic diabetes. Patients with HNF1A–MODY display sensitivity to sulphonylurea therapy, however the long term efficacy has yet to be established. There is also limited literature as to the prevalence of complications in this unique cohort. The aim of the study was to determine the natural progression of HNF1A–MODY diabetes in a dedicated MODY clinic.

Design: n=60 HNF1A–MODY mutation carriers and a cohort of n=60 BMI, age, ethnicity, and diabetes duration matched T1DM participated in the study. All subjects were phenotyped. Additional samples were drawn for the cardiovascular biomarkers sCD36/hsCRP. A 12 lead ECG was completed. Peripheral neuropathy and peripheral vascular disease was assessed clinically/ABI. Retinal screening was performed on an annual basis. Detailed clinical follow up of the HNF1A–MODY cohort occurred on a bi-annual basis for 84 months.

Results: Following a genetic diagnosis of MODY the majority of cohort remained insulin independent at 84 months follow up (75%). The HbA1c in the sulphonylurea treated group improved significantly over the study period (55 mmol/mol (45–64) vs 46 mmol/mol (39–58), P=0.009). The group that remained on sulphonylurea therapy alone lost an average of 5.6 kg weight during the study follow up. The rate of retinopathy was significantly lower than that noted in the T1DM group (18.3% vs 50%, P=0.0001). There was also a lower rate of microalbuminuria, neuropathy, and cardiovascular disease in the HNF1A–MODY group than that noted in the T1DM group.

Conclusions: This study demonstrates that the majority of HNF1A–MODY mutation carriers can be maintained successfully on sulphonylurea therapy in the long term. We note a significantly lower rate of micro- and macrovascular complications than that reported in the literature. The use of appropriate therapy at early stages of the disorder and attendance at a dedicated MODY clinic may decrease the rate of complications.

Disclosure: This study was supported by a grant from the Health Research Board of Ireland awarded to S Bacon. Grant number HPF-2013-459.

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