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Rare Disease Show Episode 8 - Understanding Wolman Disease ft. Dr Anil Arora

Written By :  Dr. Nandita Mohan
Written By :  Dr Prof Anil Arora
Published On 2024-07-31 02:00 GMT   |   Update On 2024-07-31 10:25 GMT
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Medical Dialogues presents a rare disease series, delving into the realm of uncommon medical conditions. Rare diseases are medical conditions that affect only a small percentage of the population. Throughout this series, we'll discuss these rare diseases in various episodes, with medical experts providing clear explanations and insights.
Rare Disease Show Episode 8-- In today's show we will cover Wolman Disease.
Wolman disease is a rare, genetic disorder that affects lipid metabolism. It’s caused by a deficiency in the enzyme lysosomal acid lipase (LAL), which is essential for breaking down certain fats in the body. It typically manifests in infants, usually within the first six months of life and affects both males and females and is inherited in an autosomal recessive pattern, meaning a child must inherit two copies of the defective gene, one from each parent, to develop the disease. The disease is diagnosed through a combination of clinical symptoms and laboratory tests. There is no cure for Wolman disease, but treatment focuses on managing symptoms and improving quality of life.
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In this episode, Dr prof Anil Arora, Chairman, Institute of liver gastroenterology and Pancreaticobiliary Sciences at Sir Ganga Ram Hospital, shares his insights by addressing questions asked by the Medical Dialogues team
1. What is Wolman Disease and why does it come under rare diseases?
2. What causes Wolman Disease and what are the early signs and symptoms of it that parents should be aware of?
3. How is Wolman Disease typically diagnosed, and what tests are used to confirm the diagnosis?
4. How does Wolman Disease affect the body’s ability to metabolize lipids?
5. What treatment options are currently available for managing Wolman Disease highlighting the role and effectiveness of enzyme replacement therapy in treating Wolman Disease?
6. What is the typical life expectancy for individuals diagnosed with Wolman Disease, and what factors influence it?
7. What are the differences between Wolman Disease and Cholesteryl Ester Storage Disease (CESD)?
8. What are the key challenges in managing Wolman Disease on a day-to-day basis?
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Dr. Nandita Mohan

Dr. Nandita Mohan is a practicing pediatric dentist with more than 5 years of clinical work experience. Along with this, she is equally interested in keeping herself up to date about the latest developments in the field of medicine and dentistry which is the driving force for her to be in association with Medical Dialogues. She also has her name attached with many publications; both national and international. She has pursued her BDS from Rajiv Gandhi University of Health Sciences, Bangalore and later went to enter her dream specialty (MDS) in the Department of Pedodontics and Preventive Dentistry from Pt. B.D. Sharma University of Health Sciences. Through all the years of experience, her core interest in learning something new has never stopped. She can be contacted at editorial@medicaldialogues.in. Contact no. 011-43720751

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