500-kg Egyptian woman: Doctors await gene test results to chalk out Eman’s treatment
Doctors at Saifee Hospital are awaiting the results of Eman Ahmed Abd El Aty’s genome test as they believe her obesity could be due to a monogenic disorder – an inherited medical condition caused by a mutation in a single gene. The test results are due in two weeks.mumbai Updated: Feb 17, 2017 10:19 IST
Doctors at Saifee Hospital are awaiting the results of Eman Ahmed Abd El Aty’s genome test as they believe her obesity could be due to a monogenic disorder – an inherited medical condition caused by a mutation in a single gene. The test results are due in two weeks.
Eman, who weighs about 480kg, has reportedly been obese since childhood. Her doctors said that according to her family, she went back to crawling on all fours from the age of 11 and was forced to drop out of school in Class 5 because of her excess weight. “The fact that the problem has existed since her childhood led us to investigate if it was due to a monogenic syndrome – that is, whether mutations in a particular gene caused the excess build-up of body fat,” said Dr Shehal Shaikh, consultant endocrinologist at Saifee Hospital and one of 13 doctors working with Eman.
Eman’s line of treatment will depend on which gene is found to be responsible for her obesity. “A number of genes could be behind this. A protein known as alpha-ketoglutarate-dependent dioxygenase (FTO), which is associated with fat and obesity; Melanocortin 4 Receptor (MC4R), which accounts for six to eight per cent of obesity cases; or Leptin and Leptin Receptor, which are linked to regulating hunger and body weight, are the most probable candidates,” added Dr Shaikh.
A bariatric surgeon who has successfully treated three patients weighing more than 350kg said that people with monogenic disorders usually don’t live beyond adolescence. Dr Shashank Shah, head of metabolic, bariatric and diabetic surgery at SL Raheja Hospital, said, “Multiple gene implications (abnormalities) result in severe medical issues and the patient is usually unlikely to live very long. We treat many such patients, and gene testing is usually done in paediatric and not adult cases.”
While he said it was a good to have included gene testing in Eman’s treatment protocol, he added that it was unlikely to reveal something that would change the line of treatment or make it possible for Eman to avoid surgery. “It seems that bariatric surgery is the best option for Eman,” added Dr Shah.
Dr Shaikh said that Eman’s case had prompted doctors at the hospital to study the connection between people’s genetic and environmental predispositions to disease.
Save Eman Cause:
A fundraiser campaign set up under the banner Save Eman, has managed to gather Rs 17, 86, 155 until now with the help of 114 supporters. While the treatment is provided on pro-bono basis, the funds will assist Eman’s family for travelling and residential expenses while she shifts between Egypt and India during the course of the treatment which will go on for two-three years. The money will be put in a separate account created specifically for Eman’s treatment, while she’s in India. The link to the account: https://www.bitgiving.com/SaveEmanCause.