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.
‘Egyptian national, who was once touted to be the heaviest woman, has a rare gene defect, LEPR mutation.’
The mystery behind Eman Ahmed Abdulati's massive weight gain has finally been solved. Egyptian national, who was once touted to be the heaviest woman, has a rare gene defect, LEPR mutation - reportedly making her the first person in the world whose obesity has been attributed to it. The LEPR gene provides instructions for making a protein called the leptin receptor, which is involved in the regulation of body weight. Any mutation in it causes excessive hunger.
Charni Road-based Saifee Hospital, which is treating Eman, received results of 36 gene tests conducted in the US, which revealed two genetic disorders: the LEPR gene defect, and SDCCAG8 gene defect. The SDCCAG8 defect causes Bardet Biedl syndrome (a rare, genetic multi-system disorder characterised primarily by deterioration of the cells) and Senior-Loken syndrome (a renal-retinal disorder), both of which cause weight gain. But, it's the LEPR mutation that is largely responsible for most of Eman's weight gain, said Dr Muffazal Lakdawala, noted bariatric surgeon, who is treating her. "Eman is the first patient in the world in whom the mutation is responsible for weight gain," he said.
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.