Ever heard your kin say diabetes runs in the family? What does this mean considering every human’s physiological make-up is distinct? A lesser-known and understood fact about diabetes is that there are four types of diabetes. We know of the three prominent ones-Type 1, Type 2 and gestational but the fourth one — Monogenic diabetes is what attributes to a small number of people living with Type 2 diabetes but its impact is a significant one.
One of the common misconceptions is using a blanket treatment mechanism for Type 2 diabetes, not taking into account the possibility of monogenic form of diabetes. In India, its prevalence currently accounts to about 2-5% of Type 2 diabetes patients who are less than 35 years of age. In European countries, its prevalence is a 100 in every million and it affects 1– 5% of people in USA and other industrialised countries. A monogenic form of diabetes is caused due to a single gene mutation. The most notable are Neonatal Diabetes Mellitus (NDM) and Maturity-Onset Diabetes of the Young (MODY). While NDM occurs in newborns and infants, MODY occurs in children and adolescents and both are often misdiagnosed with Type 1 or Type 2 diabetes. Such forms of diabetes can only be diagnosed with genetic testing.
MODY is a form of diabetes which is very rare. It runs in families and is caused by a single gene mutation but can occur in 14 different forms — each with its own unique clinical characteristics. The signs and symptoms of MODY are like those of Type 1 or 2 diabetes like high blood sugar levels, feeling thirsty, frequent urination, weight loss etc. People with a family history of diabetes, and children or young people with diabetes or hyperglycaemia should opt for genetic testing, on the basis of which MODY can be detected.
The foremost significance of diagnosing monogenic forms of diabetes like MODY is that unless a correct diagnosis is made, patients can be suspected to have Type 1 diabetes and advised to have unnecessary lifelong insulin injections. Diabetes is not a disease and can be easily managed provided its root cause is detected. A patient living on insulin injections may have MODY which can be managed and treated with a simple and cheap prescription of sulphonylurea tablet which has been used for decades in treating diabetes. An awareness about monogenic form of diabetes can bring about a change in its treatment.
(The author is associate director, lab operations, MedGenome Labs)