Eman’s doc to start registry for kids with rare gene mutation leading to obesity

Dr Muffazal Lakdawala, the bariatric surgeon who operated on Egypt’s Eman Ahmed, the world’s heaviest woman at 500kg, is all set to start a registry for children with rare gene mutation that leads to obesity. Out of the six children – suffering from obesity due to genetic mutation – enrolled with Lakdawala for obesity treatment, youngest is a year-old child and oldest is seven-year-old from Gujarat

Eman’s doctor to start registry for kids with rare gene mutation leading to obesity
Dr Muffazal Lakdawala with one of the six obesity patients wherein the reason is genetic mutation. She is a two-year-old girl weighing 45kg

Dr Muffazal Lakdawala, the bariatric surgeon who operated on Egypt’s Eman Ahmed, the world’s heaviest woman at 500kg, is all set to start a registry for children with rare gene mutation that leads to obesity.

Ahmed, too, has the rare gene mutation, which resulted in her becoming morbidly obese over the years, the doctor said.

Around 90% of obese people’s lifestyle is to be blamed for their obesity, but for the rest it’s genetic patterns or hormonal status, Lakdawala said.

“Many genes like leptin deficiency and leptin receptors have been implicated in obesity. It was the same for Eman. She is the only person in the world who is diagnosed with a rare genetic mutation that is leading to obesity,” said Lakdawala.

Out of the six children – suffering from obesity due to genetic mutation – enrolled with Lakdawala for obesity treatment, the youngest is a year-old child and the oldest is a seven-year-old from Gujarat.

“Right now, there is no specific treatment for genetic mutation condition leading to obesity. There are new drugs that are being developed which may be able to help these children and Eman. But the drugs are on trial. A registry of such children will helps us fight enrol them for the drug trail and benefit them,” said Lakdawala.

Doctors say many genes like leptin deficiency and leptin receptors have been implicated in obesity. Obesity caused due to genetic mutation is rare and affects only 0.5 percent of the obese population.

“I have a two-year-old girl who weighs 45kg. Such children often have other symptoms such as heart and kidney malformations or cognitive impairment. Registry will not only help spread awareness, but also help us help them get treatment and do research work,” said Lakdawala.

Among six genetic mutations leading to obesity, patients presently registered with Lakdawala are three children of a family in Gujarat. The siblings were diagnosed with a mutation in leptin receptor protein (LEPR) gene.

Explaining about how genetic mutation led to Eman’s obesity , Lakdawala said there is a hormone called leptin which comes from fat tissue and tells the brain when fat stores are being depleted.

“In Eman, the docking station in the brain that leptin plugs into seems to be very defective so leptin doesn’t send its signal. Because of this, from early life, Eman’s brain has perceived that she is constantly starving,” explained Dr Lakdawala.

He added that this has led her to constantly seek food, store it avidly in her body as fat and conserve energy. Unfortunately, doctors say there is currently no specific treatment for this condition.

“The operation that she has had may have some beneficial effects, but does not deal with the underlying problem,” said Dr Lakdawala.

While Eman underwent obesity surgery, Lakdawala said Eman needs the new drugs and they have to be effective to treat her obesity.

“If not, she may need a more radical surgery which causes malabsorption a little later in life,” said Dr Lakdawala. Eman presently weighs 238kg.