May 25, 2011
School of Medicine, Kochi
On April 4, Amrita doctors from the Departments of Pediatric Genetics and Pathology participated in an interactive audio conference on the topic, Anderson – Fabry Disease – A Treatable Cause of Renal Disease.
The lead speaker was Dr. Stephen Waldek, FRCP from Manchester Academic Health Science Centre, Salford Royal NHS Foundation Trust, UK. As a member of the European Advisory Board for the Fabry Registry, he is considered as an expert on the disease.
Dr. Waldeck’s focused on the involvement of kidneys in fabry disease and its impact on these organs as age advances. The need for early evaluation and diagnosis was also discussed.
The rarity of fabry disease means many clinicians remain unfamiliar with its symptoms, often resulting in a mis-diagnosis.
“I have only seen one patient with fabry in Amrita,” shared Dr. Sheela Nampoothiri, Head, Department of Pediatric Genetics, who participated in the audio conference. Dr. Sheela has seen thousands of patients in her clinical career.
“The patient, in question, has not yet developed renal disease but has severe neuropathic pain,” she added.
A lysosomal storage disorder, fabry disease results when a specific organelle in the body’s cells – the lysosome – malfunctions due to the deficiency of the alpha-galactosidase A enzyme.
The lysosome is commonly referred to as the cell’s recycling center because its enzymes process unwanted matter into substances that the cell can utilize.
When the particular enzyme required to metabolize lipids, fat-like substances, is missing or is present in a very small quantity, excess products destined for breakdown and recycling are stored in the cell instead.
Over time, as the abnormal storage of this fatty compound increases, the channels of the blood vessels, particularly in the kidneys, skin, heart and nervous system, become narrow, leading to multiple disorders .
Since 2001, enzyme replacement therapy has become available to treat this rare disease.
Its effectiveness and the high costs involved were the main topics of discussion during the question-answer session.
Moderated by Dr. I. C. Verma, Senior Consultant and Director, Centre of Medical Genetics, Sir Gangaram Hospital, Delhi, the conference was coordinated by Genzyme India.