Category: 2021 Summer – Diabetes Focus eMag

Maturity Onset Diabetes in the Young

A spotlight on MODY

Posted on by
Share

Dr Louise Johnson, a diabetes specialist, clarifies what Maturity Onset Diabetes in the Young (MODY) is.

MODY was first recognised in 1974 as mild familial diabetes with a dominant inheritance. This form of diabetes can be confused with either Type 1 or Type 2 diabetes.

 The criteria for suspecting MODY are:

  • Diabetes before the onset of 25 years of age
  • Absence of autoantibodies against the Beta cells (also called GAD antibodies and are present in Type 1 diabetes and Latent Autoimmune Diabetes in Adult (LADA))
  • Presence of diabetes in two consecutive generations of your family.
  • C-peptide of more than 200 pmol/L (this indicates the presence of beta-cell function of the pancreas) even after three years of insulin treatment.1

To date, 14 different gene mutations are recognised in MODY. MODY is a rare condition accounting for 1-5% of all cases of diabetes and 1-6% of paediatric cases of diabetes.

Approximately 80% of patients with MODY may be misdiagnosed with Type 1 or Type 2 diabetes at diagnosis and current calculations indicate a delay of approximately 15 years from diagnosis of diabetes to the genetic diagnosis of MODY.2

Diagnosis of MODY

At diagnosis, MODY can’t be distinguished easily from Type 1 or Type 2 diabetes based on clinical characteristics. Rather, Type 1 diabetes mostly differs from MODY in terms of disease aetiology. In Type 1 diabetes, the cause is autoantibodies, called GAD antibodies, against the beta cell of the pancreas.

Patients with MODY usually maintain beta-cell function. This can be demonstrated by doing a blood sample and measuring C-peptide. In MODY this value is above 200 pmol/L. Their diabetes is well-controlled with no or low dose insulin for at least five years after diagnosis.

The clinical manifestation of Youth Onset Type 2 diabetes clinically resembles MODY but Type 2 diabetes patients are obese. Patients with MODY may become obese due to poor diet habits and lack of exercise but are usually lean. Both Type 2 diabetes and MODY patients have a strong family history. To detect MODY, genetic testing should be done.

Candidates for genetic testing

  • Non-obese person with abnormal glucose.
  • No autoantibodies against the beta-cell of the pancreas.
  • Preservation of beta-cell function as shown by a C-peptide of more than 200pmol/L.
  • Strong history of the same type of diabetes in first-degree relative (mother or father).

However genetic testing remains expensive and is limited to cases of strong suspicion of MODY.

MODY subtypes

There are at least 14 different MODY subtypes reported. However, there are six major subtypes, as discussed below. MODY subtype determination is important as the subtypes differ in terms of age of onset of diabetes, clinical course and progression, and response to treatment.

  • MODY 1(HNF 4 alpha MODY)

This group has a progressive decline of beta-cell function. They present in adolescence. These patients also have increased triglycerides (blood fat content).

  • MODY 2 (GCK -MODY)

This mutation increases the glucose threshold for insulin secretion and thus results in increased fasting glucose values. These patients are asymptomatic, and the majority are discovered during pregnancy through a routine glucose evaluation. MODY is present in 2-6% of gestational diabetes. The clinical course of this subtype may be mild and non-progressive, and complications are rare.

  • MODY 3 (HNF1 Alpha MODY)

This mutation causes a progressive insulin deficiency that manifest as mild hyperglycaemia in childhood and early adulthood. In this group, the risk of complications is similar to Type 1 or Type 2 diabetes.

  • MODY 4 (PDX-MODY)

These patients have neonatal diabetes. This is very rare.

  • MODY 5 (HNF 1 beta MODY)

This presents in children with abnormal glucose and abnormality of the kidney and urinary tract to the bladder. These patients will develop kidney failure by 45 years of age. This should be suspected in diabetes with non-diabetic kidney disease. They develop insulin deficiency early in their disease progression.

  • MODY 6 (NEURODI-MODY)

This can cause neonatal diabetes or childhood diabetes with associated neurological manifestations and learning difficulties.

How can MODY be diagnosed correctly?

The clinical characteristics of:

  • Diagnosed before 25 years of age.
  • Presence of diabetes in two consecutive family generations.
  • Absence of beta-cell autoantibodies.
  • Preserved insulin secretion as demonstrated by a C-peptide of more than 200 pmol/L.
  • Not obese.
  • Not prone to ketones.

Treatment of MODY

Children and adolescent diagnosed with diabetes will initially be treated with insulin. After glucose is stabilised, an evaluation can be done to exclude MODY by applying the above-mentioned criteria.

MODY 2 can be treated by diet and oral antidiabetic tablets.

MODY 3 needs to be treated with oral diabetic tablets, such as gliclazide or glimepiride. The newer class drug GLP1 agonists (liraglutide) have also been approved.

MODY 5 patients need intensive insulin treatment to control glucose.

Remember MODY should be suspected in the presence of mild to moderate hyperglycaemia without ketones in the presence of a non-obese individual with a strong family history of diabetes.

References

  1. Ellard S, Ballane-Chantelot C et. al. Best practice guidelines for the molecular genetic diagnosis of maturity onset diabetes of the young. Diabetologia.2008; 51:546-553

 

  1. Shields BM, Hicks S et. al.Maturity onset diabetes of the young (MODY): how many cases are we missing? Diabetologia.2010;53:2504-2508
Dr Louise Johnson

MEET THE EXPERT

Dr Louise Johnson is a specialist physician passionate about diabetes and endocrinology. She enjoys helping people with diabetes live a full life with optimal quality. She is based in Pretoria in private practice.

Header image by Adobe Stock
Go to the AtoZ of Healthy Eating
Lesley van Greunen

Lesley van Greunen – Bariatric surgery reversed my Type 2 diabetes

Posted on by
Share

Lesley van Greunen tells us why she decided to have bariatric surgery six years ago and the great benefits that followed afterwards.

Lesley van Greunen (56) lives in Eastern Cape with her husband. She has a daughter and a deceased son.

Drastic change needed

For years, my weight went up and down and my health was deteriorating. At my heaviest I weighed 147kg. I had a number of health issues, such as Type 2 diabetes and high blood pressure amongst others, and was taking a lot of medication, so I really wanted to reduce that, especially the insulin. For many years I was taking two oral tablets mornings and at night, 85 units of insulin.

I was given an estimate of two years to live unless I did something drastically. When hearing this, I made the decision to do something about my weight as I wanted to see my grandchildren one day.

Choosing bariatric surgery

After looking into my choices of how to lose weight, I decided to have bariatric surgery. I had to lose a minimum of 10kg before the surgery to prove that I was committed and serious about my weight loss journey. I think this was also to show that I could follow procedures and diet.

A diet was designed for me. I had to weigh in weekly, and after surgery I still needed to weigh in and adjust my diet. The weight loss is not instant.

The time frame of losing the 10kg varies from person to person. From start to finish, it took me four months.

Bariatric surgery is something you must really want and must really work hard for it. I believe you have to be ready psychologically as your mindset is imperative for this to be a success.

Roux-en-Y bypass 

After I had lost the 10kg, my surgery was planned for October 2015. I had the Roux-en-Y bypass. It’s done via keyhole surgery but is a big surgery. Thankfully my family were very excited for me and supported me 100% through the transformation.

Recovery and adjustment

Straight after surgery, my relationship with food changed. I battled to eat at first. I started by having teaspoon amounts at first. It took about three weeks to get into a routine and knowing what I can tolerate as my taste changed.

Meal size is so important after surgery and mindset. I still wanted to eat the same size meal, but it’s impossible. It took me a while to get used to it and this is why I believe you have to be ready psychologically. A month after surgery, I weighed 80 kg.

My diet changed drastically and my taste in foods. Some foods affected my taste and others the smell. I can only eat tiny amounts very often. If I eat or drink too much, I become very nauseous. It’s better to eat and drink separately not together.

I must say I miss sitting down and eating a big roast dinner or Christmas lunch. I still do that but in much, much smaller quantities. Sometimes I miss it.

Every day I have to think about what I can eat. I can never just eat what I want to, as gaining weight is very possible, even after the operation. This is a whole different way of living forever, if I don’t want to go back to what I looked like before. But so worth it.

Exercise afterwards took a few weeks to get into as I was still tender around the operation site. I found walking was the best for me.

Type 2 diabetes reversed

I had high blood pressure and Type 2 diabetes among other health issues before the surgery. But in hospital all my diabetes medication was stopped and I haven’t used anything for six years. My blood glucose level never goes over 5. My blood pressure medication has also stopped and I have had no problems with it either.

Cost

My medical aid only paid for 80% of the procedure as it is elected, and classed as cosmetic. But, I’m feeling great and feel as if I have been given a new chance at life. I just wish I had done it years before.

Before bariatric surgery

Bariatric surgery reversed my Type 2 diabetes

After bariatric surgery

Bariatric surgery reversed my Type 2 diabetes
Go to the AtoZ of Healthy Eating
gestational diabetes

Exercise during gestational diabetes

Posted on by
Share

Dr Takshita Sookan, on behalf of The Biokinetics Association of South Africa, elaborates on exercise during gestational diabetes and how a biokineticist can give expecting mothers peace of mind.

From as early as the 1940s, it was recognised that women who developed diabetes during pregnancy experienced abnormally high foetal and neonatal mortality. By the 1950s, the term gestational diabetes was applied to what was thought to be a transient condition that subsided after delivery.

 

Understanding gestational diabetes

 

Gestational diabetes mellitus (GDM) is the most common metabolic disturbance during pregnancy globally.4 It’s defined as any degree of glucose intolerance with the onset or first recognition during pregnancy, usually diagnosed in the second or third trimester.1

 

 In 2017, the International Diabetes Federation estimated that GDM affects approximately 14% of pregnancies worldwide.8 In recent years, there has been an increase in the prevalence. This is due to multiple factors, such as physiological and genetic abnormalities, a family history of Type 2 diabetes, ethnicity, an increase in maternal obesity, physical inactivity and rising maternal age.4,2

 

How is it diagnosed?

 

GDM is diagnosed through the screening of pregnant women for clinical risk factors and among at-risk women by testing for abnormal glucose tolerance.2 The World Health Organisation standardised the testing for GDM using a 75g oral glucose tolerance test. The accepted normative values for diagnosis are: a fasting glucose ≥ 5,1 mmol/L, or a one-hour result ≥ 10,0 mmol/L, or a two-hour result ≥ 8,5 mmol/L.7 

 

Side effects

 

A diagnosis of GDM is associated with an increased risk of adverse birth outcomes for both the mother and the infant. These complications include preeclampsia, infant macrosomia (larger than average size), neonatal hypoglycaemia, and increased risk of developing Type 2 diabetes later in life.

The possible effect on the infant includes the increased risk of developing Type 2 diabetes, cardiovascular complications and obesity later in life.6,9

Therapeutic strategy

 

The primary aim of treating GDM is to optimise glycaemic control to improve pregnancy outcomes. Lifestyle interventions, such as modified diet and exercise, are usually recommended as the primary therapeutic strategy to achieve acceptable glycaemic control.9

Exercise

 

Exercise in individuals with diabetes has long been prescribed to help disease management by increasing insulin sensitivity and improving glycaemic control.6 Exercise is safe and can positively affect pregnancy outcomes.3

 

Eminent medical professional groups that provide guidelines on antenatal healthcare recommend exercise in pregnancy for women without contraindications to reduce the risk of developing GDM.

 

Exercise is deemed to be an important component of the lifestyle intervention for GDM.5 A single bout of exercise increases skeletal muscle glucose uptake, minimising hyperglycaemia.3 Regular exercise has the potential to prevent GDM.

 

The success of the exercise intervention is dependent on several factors, such as early initiation, correct intensity and frequency, and the management of gestational weight gain.6

 

Current recommendations to accrue health benefits include both aerobic and strength training exercises for women who have uncomplicated pregnancies, specifically 30 to 60 minutes of moderate intensity exercise, three to four times per week throughout the pregnancy.5,6,7

 

The majority of research studies have provided an evidence-based approach to these recommendations. Research studies have looked at the impact of exercise on the risk and treatment of GDM and found that exercise was overall protective against GDM.6,9

Work with a biokineticist

 

However, few women achieve these exercise goals during pregnancy.5,6,7 There is also perception that exercising may harm the foetus. These challenges can be overcome by working with a biokineticist.

 

As registered healthcare professionals, biokineticists promote life through movement and use scientifically-based and individualised exercise prescription to enhance health and well-being.

 

For a woman with GDM, a biokineticist can optimise glycaemic control to improve pregnancy outcomes by enhancing muscle strength, endurance, cardiorespiratory fitness and flexibility through evidenced-based exercise. Working with a biokineticist can further reassure the mother to be on the overall safety of the exercises and provide peace of mind which will result in optimal positive outcomes.

 

Biokineticists are involved in many areas of treatment, including orthopaedic and neurological rehabilitation, health promotion, chronic disease management and sporting performance. They promote an active lifestyle to prevent non-communicable diseases, such as diabetes. Furthermore, they are specifically educated to prescribe and supervise exercise to individuals for the management and prevention of GDM.

 To find out more about biokinetics and to find a biokineticist near you, visit biokineticssa.org.za

References

  1. ADA, A. D. A. 2004. Gestational diabetes mellitus. Diabetes care, 27,
  2. BUCHANAN, T. A. & XIANG, A. H. 2005. Gestational diabetes mellitus. The Journal of clinical investigation, 115, 485-491.
  3. DIPLA, K., ZAFEIRIDIS, A., MINTZIORI, G., BOUTOU, A. K., GOULIS, D. G. & HACKNEY, A. C. 2021. Exercise as a Therapeutic Intervention in Gestational Diabetes Mellitus. Endocrines, 2, 65-78.
  4. JOHNS, E. C., DENISON, F. C., NORMAN, J. E. & REYNOLDS, R. M. 2018. Gestational diabetes mellitus: mechanisms, treatment, and complications. Trends in Endocrinology & Metabolism, 29, 743-754.
  5. KOKIC, I. S., IVANISEVIC, M., BIOLO, G., SIMUNIC, B., KOKIC, T. & PISOT, R. 2018. Combination of a structured aerobic and resistance exercise improves glycaemic control in pregnant women diagnosed with gestational diabetes mellitus. A randomised controlled trial. Women and birth, 31, e232-e238.
  6. LUST, O., CHONGSUWAT, T., LANHAM, E., CHOU, A. F. & WICKERSHAM, E. 2021. Does Exercise Prevent Gestational Diabetes Mellitus in Pregnant Women? A Clin-IQ. Journal of Patient-Centered Research and Reviews, 8,
  7. MING, W.-K., DING, W., ZHANG, C. J., ZHONG, L., LONG, Y., LI, Z., SUN, C., WU, Y., CHEN, H. & CHEN, H. 2018. The effect of exercise during pregnancy on gestational diabetes mellitus in normal-weight women: a systematic review and meta-analysis. BMC pregnancy and childbirth, 18, 1-9.
  8. PLOWS, J. F., STANLEY, J. L., BAKER, P. N., REYNOLDS, C. M. & VICKERS, M. H. 2018. The pathophysiology of gestational diabetes mellitus. International journal of molecular sciences, 19,
  9. SHEPHERD, E., GOMERSALL, J. C., TIEU, J., HAN, S., CROWTHER, C. A. & MIDDLETON, P. 2017. Combined diet and exercise interventions for preventing gestational diabetes mellitus. Cochrane Database of Systematic Reviews.

MEET THE EXPERT

Written by Dr Takshita Sookan on behalf of BASA. Dr Takshita Sookan is a biokineticist and a senior lecturer and research coordinator in the Discipline of Biokinetics, Exercise and Leisure Sciences, College of Health Sciences, University of Kwa-Zulu Natal, KZN Regional Academic Representative: Biokinetics Association of South Africa (BASA).
cholesterol

What is high cholesterol and how can you decrease it?

Posted on by
Share

Affinity Health examines the dangers of high cholesterol and how to decrease risks of unhealthy cholesterol.

What is cholesterol?

The Heart and Stroke Foundation of South Africa defines cholesterol as a soft, fatty substance found in the blood that plays a critical role in cell membranes. It also produces many hormones, and aids bile digestion. The liver produces most of the cholesterol in the body, which is then transported to the rest of the body via the blood.

Good versus bad

Cholesterol is divided up into two different types:high-density lipoprotein (HDL) and low-density lipoprotein (LDL).

HDL – Known as “good” cholesterol, HDL helps to carry cholesterol to your liver. As a digestive powerhouse, the liver processes excess cholesterol to be removed from the body.

LDL – Known as “bad” cholesterol, LDL carries cholesterol to the arteries. Rather than being removed from the body, excess cholesterol collects along the walls of arteries. This causes a dangerous build-up of cholesterol and other deposits on your artery walls (atherosclerosis).

These LDL deposits (plaques) can reduce blood flow through your arteries, causing problems such as:

Chest discomfort

You may experience chest pain (angina) and other symptoms of coronary artery disease if the arteries that supply blood to your heart (coronary arteries) are affected.

A heart attack

When plaque tears or ruptures, a blood clot can form at the site of the rupture, blocking blood flow or breaking free and plugging an artery, resulting in a heart attack.

Stroke

A stroke can occur when a blood clot blocks blood flow to a part of your brain, similar to a heart attack.

What causes high cholesterol?

An unhealthy lifestyle is the most common cause of high cholesterol. “Unhealthy eating habits, such as consuming too many unhealthy fats, can cause your LDL to rise. Lack of physical activity, excess weight or obesity and smoking is problematic. Underlying health conditions, such as diabetes and thyroid conditions, can also raise bad cholesterol levels,” says Murray Hewlett, CEO of Affinity Health.

“High cholesterol does not always manifest itself in the form of symptoms. That means the only way to know for sure if your levels are too high is to check them with your doctor. A cholesterol test is a simple blood test that checks the levels of HDL, LDL, and triglycerides.”

How is a cholesterol test done?

A rapid test involves a droplet of blood being placed on a specialised strip of paper to measure the amount of cholesterol in the blood.

When you have a test done, also known as a lipid panel, the ideal levels or measurements are:

  • HDL: Above 55 mg/dL for women | Above 45 mg/dL for men
  • LDL: Below 130 mg/dL
  • Triglycerides: Below 150 mg/dL

If you’re concerned about your levels, you should get it checked.

Header image by Adobe Stock
Go to the AtoZ of Healthy Eating