MODY: Early signs of this rare form of diabetes that affects young people

MODY: Early signs of this rare form of diabetes that affects young people
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Diabetes affects people of all age groups and is growing rapidly due to changing lifestyle of people. But there is a rare form of diabetes that is found in young people under the age of 25; it runs in the family and could even be acquired by people who are not obese and leading a relatively healthy lifestyle. MODY or Maturity Onset Diabetes of The Young is diagnosed only in 1-4 per cent of overall diabetes cases and is caused by a mutation in a single gene. (Also read: Do you have diabetes? Follow these Ayurveda dos and don’ts)

Some forms of it may be asymptomatic and only discovered upon a routine fasting blood sugar test. Considering its symptoms could overlap with type 1 and type 2 diabetes, the risk of misdiagnosis is high.

Some forms of MODY can be managed by lifestyle changes alone while some may require medication or insulin depending on the type. HT Digital spoke to Dr Subrata Dey, Senior Consultant Pediatric Endocrinologist, Apollo Multispecialty Hospitals, Kolkata about this rare form of diabetes. Here are excerpts.

What is MODY? How is it different from other type of diabetes?

Maturity Onset Diabetes of the Young (MODY) is traditionally defined as a group of inherited autosomal dominant genetic conditions with two to three consecutive generation family history of diabetes mellitus diagnosed before 25 years of age in lean nonobese individuals. 

There is significant overlap between MODY subtypes, Type I and Type 2 diabetes leading to frequent misdiagnosis. It is important to make the distinction because the treatment in some instances is dramatically different.

What are the different forms of MODY?

The three more common forms of MODY are 1,2 and 3 (HNF4A-MODY, GCK-MODY and HNF1A-MODY) of which MODY 3 is the commonest. Type 3 MODY, its most common type, is caused by mutation of the HNF1A gene comprising of 70 per cent of all cases.

MODY 1 causes HNF4A gene defect. They have mutations which lead to progressive decrease in insulin production and over time progress to symptomatic diabetes.

These forms of MODY present in adolescence and early adulthood and are responsive to the oral drug sulfonylurea and may successfully be transferred from insulin therapy to oral medication.

Familial asymptomatic hyperglycemia in children and young adults is frequently due to GCK-MODY 2, which is often mistaken for type I diabetes in childhood and type 2 diabetes in adolescence and young adulthood. It is caused by mutations in glucokinase gene in the pancreatic beta cell.

What are the early signs of the disease and which age group is more impacted?

MODY 3 and MODY 1 often go unidentified as the disease develops gradually with progressive decrease in insulin producing capacity and rising blood sugar levels and one may not experience any symptoms at first. 

The symptoms in these types resemble that of diabetes mellitus such as severe thirst, excessive water drinking and passing large volumes of urine and unexplained weight loss when the insulin producing capacity becomes severely compromised in adolescents and in young adults before age 25.

There may be a history of large birth weight and low blood sugars at birth in these individuals. MODY 2 are never symptomatic and are usually picked up on routine fasting blood sugar and are misdiagnosed as Type 1 or Type 2 Diabetes Mellitus.

How is the disease diagnosed and what is the prevalence of it in India?

1 to 4 per cent of the Indian diabetic population suffers from MODY. When patients first present with symptoms of diabetes mellitus a detailed history thorough clinical examination and appropriate investigations should be sent.

The classic features of MODY include high blood sugars detected in adolescents and young adults in non-obese individuals with a strong 3 generation family history and absence of pancreatic autoantibodies. Diagnosis is confirmed by targeted genetic panels for monogenic diabetes using specialized next generation sequencing techniques.

What is the treatment and the lifestyle modifications required to keep it in check?

Firstly, the correct diagnosis of MODY and the subtype should be confirmed by genetic testing. MODY 3 and MODY 1 respond to oral sulfonylurea medication and can be switched from insulin to oral medication. MODY 2 does not require any treatment only lifestyle modifications of diet and exercise.

Some forms of MODY require insulin injections. It is necessary to follow a well-balanced diet with low fat and low sugar intake and regular exercise in all patients with diabetes mellitus. Regular follow up with the doctor will ensure good diabetes control.

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