Niemann–Pick Disease: Symptoms, Types and Treatment of This Fatal Disease

Vaibhav Saxena

, Health A2Z

Niemann–Pick Disease is a chronic neurodegenerative disorder that arises from an accumulation of lipids in the liver, brain, and spleen. Lipids is another term used to denote rigid fats in the body. This ailment can affect a person in a multiple and distinctive manner as there are several kinds of classification that this disease possesses.



The after effects of this diseases is highly uncertain and typical as it is an inherited disease caused by mutations. The Niemann–Pick Disease prognosis is extremely typical and complicated as the chronicity increases with the due time.


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What is Niemann-Pick Disease?


This ailment is classified as a rare and inherited disease which generally affects the bone marrow, spleen, brain or liver of the body. Critically, the Niemann-pick disease is a mutation disorder that affects the lipid metabolism, this dysfunction leads to excessive lipid storage in various parts of the body.



This disease is easily recognized through the enlargement of the organs due to the lipid storage deformity which was mentioned earlier. This particular disease is an umbrella for multiple conditions that makes it categorized into four major kinds, although this there are few more types, there are very fewer pieces of evidence that shows their occurrence. Follow to learn more about the major Niemann-Pick disease types.


1. Type A

Sphingomyelinase is an enzyme that goes missing and leads to this condition. The body tends to lose the capability to metabolize fat that consequently causes harmful effects on the body like organ enlargement and further symptoms.



2. Type B

This condition is highly similar to the Type A only. However, the type A and type B are rooted as same conditions with name Type 1. The only difference between type A and type B is that the former occurs in the age of childhood whereas the latter affects the infants generally.



3. Type C

The Niemann-Pick disease Type C is quite different in case of occurrence as compared with the aforementioned classifications. This condition leads to deposition of the lipid or cholesterol in the liver, spleen or lung whereas the brain gets affected eventually.



4. Type E

This is the rarest kind, which leads to several neurological and psychological disorders. Generally, swelling is found in the nervous system of the body whilst the organs are affected similarly with other conditions.




What are the Niemann-Pick Disease Symptoms?


The signs and symptoms of this ailment are generally and thoroughly visible right after few weeks or days of the occurrence of the disease. However, the symptoms may vary from one person to another as a different person can be affected by the different type of the disease. There are few similar and common symptoms that are encountered by every person who gets affected by this disease are enlisted below.

  • Walking Difficulty


  • Clumsiness


  • Pneumonia


  • Excessive eye movements


  • Muscle contractions


  • Inability to swallow or eat


  • Sleep disturbances



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What Causes Niemann-Pick Disease?


The base cause of the occurrence of this disease is explainable that is mutations in specific genes. These specific genes are the ones which are responsible for the metabolism of the lipids. Also, the causes are strictly distributed and differentiated in the case of different types.


The Type A and Type B are caused when the WBCs hinders the production of the sphingomyelinase, which is responsible for accumulating the fats from the cells. Whereas, Type C occurs due to the inability of the body to eliminate the body fats in form of lipids or cholesterol which leads to the enlargement of the liver, spleen or lungs. The rarest one, Type E occurs generally in adults and the particular causes are unknown and undiscovered.




What is Niemann-Pick Disease Treatment?


As we learned earlier, the causes of the Niemann disease differs alongside the different types. Hence, it is correct to assume that the treatment measures must be varying as well. The treatment measures for every type of the ailment are enlisted below.


1. Type A


In today’s time, there are no such treatment procedures are available for this type. The treatment involves caring and management of the patient.


2. Type B


There is much further research is on-going for this type. However, practices like enzyme replacement therapy, bone marrow transplants, and gene therapy are conducted to provide the cure.


3. Type C


The treatment procedures involve physiotherapy and movement exercises in order to eliminate the deposited fats in the body through slow and steady motion of the body.


4. Type E


There is very little information available for this type, hence the treatment procedure unavailable as well.





The Niemann-Pick Disease is surely a rare disease but can be deathly fatal to the human body. It is ideal to recognize the disease at its early stage and seek doctor’s help for further treatment and management. Also, consumption of the fatty and unhealthy food should be avoided to halt the deposition of excess lipids or cholesterol.


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