Rare genetic defect cause of Eman's obesity

Egyptian Eman Ahmed is the only person in the world found to be suffering from a gene defect that has made her abnormally obese, according to doctors treating her.
The Egyptian weighed 498 kgs when brought to Mumbai, but now weighs 340 kgs following a bariatric surgery conducted on her earlier this month.
Doctors said the operation may have some beneficial effects but does not deal with the underlying problem.
"Eman is the only known person to have such a genetic defect," the doctors said in a statement yesterday.
"The gene identified as the cause of obesity in Eman is a 'homozygous missense variant' in the LEPR gene. This gene variant was previously detected in one individual during a research carried out through the Personalised Diabetes Medicine Programme, University of Maryland School of Medicine, and it has been classified as a 'variant of uncertain significance'," noted bariatric surgeon Dr Muffazal Lakdawala. said in a statement.

He said the variant has assumed pathological consequences in Eman, leading to her obesity.

She also has another gene defect called Senior-Loken syndrome, but the doctors believe that it may not be a significant cause of obesity in her case.
"A hormone called leptin, which is secreted by fat tissue, sends signal to brain when fat stores are depleted. However, in Eman's case, the docking station in her brain that leptin plugs into, seems to be very defective, so leptin doesn't send its signal," the statement said.
The condition has made Eman's brain perceive that she is constantly starving.
"Hence, she constantly sought food, stored it avidly in her body as fat and conserved energy. Unfortunately, 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," it said.

After surgery, Dr Lakdawala had stated that he had only removed fluid from Eman's body, and that the real challenge he will face is the fats accumulated in her body.
As per the statement, new drugs are being developed which may be able, at least partially, to "bypass" the signaling block in brain.
"It may have some promise in this situation, but it is very early for these drugs. So if she has access to these drugs and they are effective, then we have a solution for her obesity. (But) If not, then she may need a more radical surgery which causes mal-absorption a little later in life," the statement added.

Eman will continue to be on a strict diet along with physiotherapy, and will undergo a brain CT scan in the next two weeks.
She was admitted at Saifee Hospital last month, where she is treated by a team of doctors led by Lakdawala.
On the future course of action, Dr Lakdawala said that Eman will continue to be on a strict diet along with physiotherapy.
"She will undergo a brain CT scan in the next two weeks as she had a stroke earlier and never underwent a CT scan before because of her weight. We then plan to send her home," said Lakdawala.