30% children suffering from LSD die at young age: expert

August 19, 2013 Off By Web Desk

Karachi: More than 100 patients of Lysosomal Storage Disorders LSD have been diagnosed in the last eight months in Pakistan and a large number of such suspected cases have been due to the strong trend of interfamily marriages in the country.

These views were expressed by Dr Huma Arshad Cheema, Prof of Paediatric Gastroenterology, Hepatology & Nutrition at Institute of Child Health and Children’s Hospital Lahore at a press briefing organized by National LSD Core Committee at a local hotel. Dr Aisha Mehnaz, Head of the Department of Paediatrics at Dow University of Health and Sciences, Dr Agha Shabbir Ali, Prof of Paediatric, Post Graduate Medical Institute at Lahore General Hospital and Dr Zareen Fasih, Head of Department, Prof Paediatrics at Ziauddin Medical University Hospital Karachi were also present on the occasion.

Dr Huma said LSD are inherited genetic defects which affect multiple organs and cause progressive physical or mental deterioration over time. She informed that some patients survive into adulthood, but others more patients with severe symptoms may die in their teen ages or earlier.

She further informed that there are about 45 disorders in the LSDs category and Enzyme Replacement Therapy ERT which is the only specific treatment available for some LSDs. She said that currently therapies are available for only six LSDs Gaucher, Pompe, Fabry, Mucopolysaccharidosis MPS I Hurler Syndrome, MPS II Hunter Syndrome and MPS VI Maroteaux Lamy.

It was pertinent to mention here that the leading paediatricians dealing with LSD have formed a National LSD Core Committee whose aim is to aid in the diagnosis and treatment on this disorder. In this connection first meeting of the National LSD Core Committee was held on Monday, 19th August at local hotel.

Dr Aisha Mehnaz said previously, it was very challenging to diagnose these cases and few doctors were sending blood samples to different countries like UK, USA, Germany, and India for diagnosis and the cost of each test was PKR 12,000 to PKR 15, 000. She said now it is easy to diagnose LSDs as the screening/diagnostic support in Pakistan is now being facilitated free of cost at Children Hospital Lahore, Military Hospital Pindi, AKUH, Civil Hospital Karachi, NICH Karachi, Ziauddin Hospital Karachi, Nishter Hospital Multan and Children Hospital Complex Multan.

Dr Agha Shabbir said LSD means there is something wrong with special chemicals called enzymes that are required to break down certain substances in the body.

Dr Zareen Fasih said about 30 percent of the children diagnosed with LSDs die at a young age. She said due to lack of awareness, affected children dies before a definite diagnosis is made.

The speakers mentioned that given the economic condition of most patient households and the high treatment costs involved, major support from the government is crucial to combat LSD. They said prevention is better than cure and government should also work to promote parental screening.

They speakers demanded of the government to ensure enzyme therapies are made available for the treatment of the children affected with LSD.