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Niemann Pick disease is a hereditary disease that touch the metamorphosis of lipids or how fats , lipids , and cholesterin are store in or removed from your body . People with Niemann - Pick disease have an unnatural lipid metabolic process that causes an accumulation of harmful amounts of lipoid in various organs . The disease principally affect :
This lead to enlargement of the spleen and neurological problem .
The disease is divided into type A , B , C and E. Originally there was a type D , but research has shown that it is a variance of eccentric C. Type E is a less common reading of Niemann - Pick , which arise in adulthood.(1 , 2 , 3 )
How Common Is Niemann Pick Disease Or Is It A Rare Disease?
The happening of both Type A and B Niemann Pick disease is reported to be one patient role per 250,000 individuals when the total population of the world is taken into retainer , including all race and demographics . It is project that one in every 150,000 individuals may suffer from Niemann Pick disease Type C.
The severity of the disease reckon on the sham organs . symptom and treatments vary according to the type of Niemann Pick disease . However , each type is severe and can shorten a person ’s life history expectancy .
Symptoms Of Niemann Pick Disease
Type A : The sign and symptom of the case A form of Niemann Pick Disease pass in the first few months of life and include :
Swelling of the venter by enlargement of the liver and spleen , which usually fall out at the age of 3 - 6 months
case B : The symptoms of the type B configuration of Niemann Pick disease normally occur in tardy puerility or adolescence . Type B does not admit motor difficulty that commonly occur with Type A. The sign and symptoms of type boron can be :
swell of the abdominal cavity by enlargement of the liver and spleen , which often begins in early childhood
Delayed growth or developmental disfunction at a normal rate that causes dwarfism and ocular irregularity
character speed of light : The symptoms of the type C cast of Niemann Pick disease usually occur in children around the age of 5 years . case C , however , can occur at any prison term in a person ’s life , from birth to adulthood . sign and symptoms of Type C include :
case E : case E of the disease affects adult . This type is quite rare and research on this experimental condition is limited , but the sign and symptoms include swelling of the lien or genius and neurological problem such as Swelling in the nervous system .
Treatment Options
presently , no treatment for character A is known . in the first place symptomatic care is fall in to patient with any type of this disease . For Type B various treatment options have been used , including ivory marrow transplantation , enzyme replacement therapy , and cistron therapy . The enquiry will continue to determine the effectiveness of these treatment .
For Type , C Physiotherapy serve in hold mobility . For the treatment of type C , presently , a drug called Miglustat is used . Miglustat is an enzyme inhibitor . It prevents your trunk from producing fatty gist , so less of it builds up in your body . In this causa , the roly-poly gist is cholesterol.(4 , 5 )
Conclusion
Niemann Pick Disease is a rarified genetic disorder , which is hereditary and has practically no curative . The disease has a Type A , B , C , and E discrepancy . The Type A is particularly severe and Type E is most rare . Type A has no treatment and different treatment options are in trial for other variants . Only symptomatic management is currently an option .
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