Lifestyle Diseases: Imperial College London Diabetes Centre

 

Misdiagnosis of diabetes type renders treatment inefficient

  • By Dr Sara Suliman
    Consultant Endocrinologist and Diabetologist at Imperial College London
    Diabetes Centre (ICLDC)

Diabetes mellitus is one of the major healthcare challenges in the UAE with close to one in five adults currently affected. It places a substantial burden on society not only due to the material costs of treatment of diabetes and its associated complications (most notably cardiovascular disease), but also due to reduced productivity, chronic disability and premature mortality. Other intangible costs include: reduced quality of life, pain and suffering of people living with diabetes, as well as the physical, psychological and material strains on family and friends of affected individuals e.g. the parents of a child with diabetes.

Precision medicine (or personalised medicine) is an emerging approach to disease diagnosis, treatment and prevention that considers variations in genes (genomics), proteins (proteomics), metabolites (metabolomics), environment, lifestyle and other factors (e.g. gut micro-biome). This approach helps to properly classify diseases such as diabetes offering individualised treatment and moving away from the ‘one size fi ts all’ model. Diabetes is a prime example of a condition where many patients and their physicians are aware of two sub-types (type-1 or type-2), whereas in practice there are in excess of 15 subtypes of diabetes each of which has a different aetiology and as such could and should be treated differently.

The majority (95-98%) of those living with diabetes worldwide have either type-1 or type-2 diabetes. However, in an estimated 2-5% of diabetic patients (i.e. approximately 20,000 – 50,000 individuals in the UAE), a genetic abnormality (often due to a single gene defect) causes abnormalities in insulin secretion or action that can lead to diabetes. This condition is called monogenic diabetes and is diagnosed based on certain criteria, and more specifi cally, genetic testing. Importantly, many of these conditions are familial affecting 50% of an affected individuals off-spring.

The benefits of genetic testing in diabetes management
Individuals with monogenic diabetes are often misdiagnosed with either type 1 or 2 diabetes, and as such often treated inappropriately. Genetic testing can have immense benefi ts in diabetes management, as the correct diagnosis allows some patients to transfer from insulin injections to oral medication with marked improvements in glycaemic control and, in turn, quality of life. It may also identify families with diabetes and high cardiovascular risk e.g. familial partial lipodystrophy who require vigilance in investigation and early management, whereas on the other end of the spectrum diabetic families with glucokinase mutations have a very low risk of diabetes-related complications similar to non-diabetic populations.

Monogenic diabetes remains largely under- diagnosed and under-researched. With strong indications pointing to previously undiscovered mutations, perhaps specifi c to the UAE and the wider Middle East, in some patients.

Imperial College London Diabetes Centre (ICLDC) opened the fi rst dedicated genetics of diabetes and endocrine disorders clinic in the GCC region in March 2016. Currently serving 165 individuals with diverse types of monogenic diabetes and genetic endocrine disorders, the facility sees on average three to four new cases every week. This offers a personalised service focusing on accurate diagnosis using genetic testing, and tailors investigations and treatment accordingly. In 2016, six patients could come off insulin after their diabetes was diagnosed as monogenic and not type 1 as originally believed.

The prevalence of monogenic diabetes in the UAE is currently unknown. ICLDC’s Genetics Clinic is setting the benchmark for monogenic diabetes clinical care and research in the region with its ground-breaking work. The team is expanding to include a genetic counsellor and dedicated diabetes genetics nurses to enable the facility to treat more people, identify affected family members as well as raise awareness of monogenic diabetes and its risks among the community. Data collected at the clinic will provide an ideal base for establishing a national and regional registry of monogenic diabetes that is set to become an invaluable resource for research of the condition and the most effective treatments locally and regionally.

 

 

Date of upload: 19th Nov 2017

                                  
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