Niemann-Pick Disease is caused due to Hereditary factors, it can affect about 1 in 15,000 people and this disease can be life-threatening.
Here is some valuable information about this disease
What is Niemann-Pick Disease?
Niemann is not 1 condition but it is a group of conditions that is passed from generation to generation in families. In this condition, Fatty substances are accumulated in the Brain, Liver and Spleen Cells.
Types of Niemann-Pick Disease
Medical researchers have divided this disease in to 4 types. This division depends on the specific Genetic damages. Based on the division.
Niemann-Pick disease has an autosomal recessive pattern of inheritance.
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Following are the 4 types of Niemann-Pick Disease
- Niemann-Pick Disease Type A
- Niemann-Pick Disease Type B
- Niemann-Pick Disease Type C
- Niemann-Pick Disease Type D
- Niemann-Pick Disease Type E
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Niemann-Pick Disease Type A
This type of Niemann-Pick disease is mostly found in the early stages of childhood. This disease has a poor Prognosis.
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Niemann-Pick Disease Type B
This is an immature type of this disease. The symptoms of this condition start building up in the later stages of infancy or during youth.
The Type A and Type B are together called as Type 1. Type A and Type B are the 2 common types of this disease.
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Niemann-Pick Disease Type C
This disease is mostly found in the school going children. This disease can build up at any stage of childhood or youth. This is a severe form of this disease that may cause complications in Brain.
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Niemann-Pick Disease Type D
This form of disease is only found in the French Canadian people of Yarmouth Country, Nova Scotia. Type C and Type D collectively known as Type 2.
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Niemann-Pick Disease Type E
This form of disease is mostly found in the people at the starting of Adulthood.
Every type of Niemann-Pick Disease involves many organs. These organs sometimes involves and sometimes, don’t involve Respiratory System and Nervous system. Every type of Niemann-Pick Disease can cause different symptoms, which can occur at different stages of life varying from childhood to adulthood.
Causes of Niemann-Pick Disease
Type A and Type B of this disease is caused due to fewer Enzymes in the body known as an Acid Sphingomyelinase. This Acid aids in Metabolism of Fatty substance called as Sphingomyelin. It is present in all cells of human body.
Inapropriate functioning of Acid Sphingomyelinase can cause collection of Sphingomyelin in different cells of Human body. This condition can lead to death of cells making functioning difficult for the organs.
Type A of this disease can develop in all races but it is mostly found in the people of Eastern Europe. They have higher chances of affecting with this disease.
Type C of this disease takes place due to lack of ability of human body in decaying Cholesterols in to Fats or Lipids. It can lead to the collection of high amount of Cholesterol in the Spleen and Liver. It can also result in the accumulation of Lipids in the Brain of human body. It can also decrease the functioning of Acid Sphingomyelinase in many cells. This type of Niemann-Pick Disease can affect the people of all races but it more common in people of Spain.
Type D of this disease can originate from fault that can damage the functioning of Cholesterol in the cells of Brain. It is now referred as a variation of Type C. This type is mostly seen in the French Canadian people.
Symptoms of Niemann-Pick Disease
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Niemann-Pick Disease Type A
The symptoms of Type A of Niemann-Pick Disease commonly buildup in first few months of patient’s life. These symptoms may include
- Swelling in Abdomen for 3 to 6 months
- Red spot in Eye
- Difficulty in feeding
- Loss of early Motor skills
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Niemann-Pick Disease Type B
The symptoms of Type B of Niemann-Pick Disease are moderate in Nature. Infants may have irritation in Abdomen and loss of Motor skills but there is also a slight contribution of Nervous System and Brain in it. Some patients may also experience frequent infections in Respiratory System.
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Niemann-Pick Disease Type C and Type D
The symptoms of Type C and Type D are almost same
They may include
- Enlarged Liver
- Enlarged Spleen
- Increase in size of Lymph Nodes
- Seizures
- Difficulty in moving Limbs
- Jaundice right after birth
- Difficulty in learning
- Tremors
- Loss of Mental abilities
- Occurrence of dark patches on Skin
- Dementia
- Irregularity in speaking
- Loss of muscle balance
- Difficulty in motion of Eyes
- Instability in walking
Children suffering from this condition mostly have fewer amounts of White Blood Cells and Platelets. This makes them Anemic and increases the chances of Infections in them.
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Niemann-Pick Disease Type E
The symptoms of this disease are
- Irritation in Brain
- Increase in size of Spleen
- Neurological Problems
The symptoms of this disease vary from person to person. The succession of this disease also varies from person to person.
Diagnosis of Niemann-Pick Disease
This disease is diagnosed by checking the quantity of Acid Sphingomyelinase in White Blood Cells. This test is done by taking sample of Blood or Bone marrow.
DNA tests are done to find the type A or B of this disease.
Skin Biopsy is done to detect the Type C and D of Niemann-Pick Disease. The scientists of Laboratory determine the growth of Skin cells and also study how Cholesterol move and stores.
DNA test is also conducted to determine 2 Genes that can cause type C of Niemann-Pick Disease.
Other tests for this disorder may include
- Bone Marrow Aspiration
- Slit-Lamp Eye Exam
- Sphingomyelinase Assays
- Liver Biopsy
Treatment of Niemann-Pick Disease
There is no affective treatment of Type A of this disease.
Transplantation of Bone Marrow is an effective treatment for Type B of this disease. Research is still done on finding more cures for Niemann-Pick Disease. Gene Therapy and Enzyme Replacement will be treatments for this disease in Future.
A new method of treatment known as Miglustat, is approved to cure Type C. there is no treatment for Type D.
A low-Cholesterol diet is good for the people, who are suffering from this disease.
Medicines can give relief from the symptoms of this disease including Seizures etc.
Prognosis of Niemann-Pick Disease
Type A of Niemann-Pick Disease has poor prognosis. Children with Type A hardly survive over 3 years of age. Survival is longer in patients suffering from Type B NPD. Many patients may need Oxygen due to involvement of Lungs.
Patients of Type B and Type C have better prognosis. The life expectancy of Type C and Type D varies. Some patients die in childhood while other patients, who don’t suffer from severe symptoms may live into adulthood.
Complications of Niemann-Pick Disease
Following are the complicatiosn of this disease
- Deafness
- Blindness
- Death
- Damage to Brain
- Loss of Mental abilities
National Niemann-Pick Disease Foundation
The National Niemann-Pick Disease Foundation is an organization that works and promotes the research conducted on this disease. It helps in finding cures for all types of Niemann-Pick Disease and it also supports the patients and their families suffering from this disease.
Niemann-Pick Disease is a disease that may suffer from generation to generation, if patients don’t take care, this disease can lead to death.
