Niemann pick disease : types, symptoms, causes, treatment

Last Updated on December 6, 2022 by Dr. Saqib Mueed

Niemann picks disease is an autosomal recessive disease in which lipid metabolism will affect due to a shortage of enzymes known as acid sphingomyelinase.

Niemann pick disease was discovered by the German medical specialist Albert Niemann. The sphingomyelinase enzyme is required to digest the lipids. As it is absent in the body so the accumulation of cholesterol takes place in different parts of the body.

It is an inborn disease. The accumulation occurs in the following parts of the body that is liver, brain, spleen, and bone marrow. As the accumulations of the lipids occur the foaming shape cells are formed known as foam cells in the different parts of the body. Out of 150 thousand births, it affects only one.

It is an uncommon disease. The babies having this disease hardly live to the age of ’20s otherwise the babies will die.

Types of Niemann pick disease

• Niemann Pick type A disease
• Niemann Pick type B disease
• Niemann Pick type C disease
• Niemann pick type D disease

The Niemann Pick type A disease and the Niemann pick type B disease are collectively known as type1.

The Niemann Pick type C and the Niemann pick type D are collectively known as type2.

Each type affects the different organs of the body. Out of 250 thousand people, type A and type B affects only one.

Symptoms 

There are different symptoms of the different types of Niemann pick disease.

Niemann Pick type A disease

It has the following symptoms.

• The size of the liver increases (due to the accumulation of fats, the size of the liver increases)
• Detainment in growth ( due to a nervous problem the  growth does not occur properly on time)
• Problems of bleeding (sometimes bleeding starts from the body)
• Severe pain in bones (fats accumulation leads to the pain in the body)

Niemann pick type B disease

There are the following symptoms of Niemann pick type B disease.

• When the baby is born after a few months their symptoms appear.
• Disbalancing (the patient is unable to balance their body)
• The patients frequently suffered from a chest infections.
• Problems in eating (the patients feel difficulty in eating and drinking)
• The patients also suffered from neurological problems

Niemann pick type C disease

The Niemann Pick type C disease symptoms may appear late in adult years or early. It has the following symptoms.

• The person feels difficulty in speaking and he hardly speaks. He does not convey his message
• Abdominal bloating (the stomach swells up due to the accumulation of fats and sometimes gas)
• Jaundice (It occurs due to a large amount of bilirubin)
• The person loses the sensation of hunger)
• Do not walk properly
• Sleep cycle disturbed (the patient sleeps during day time and wakes during)
• The patient became lazy
• The patient becomes bipolar (mood changes immediately)

Niemann pick type D disease

The symptoms of Niemann pick type D disease have the following symptoms.

•   Auditory issues
•   Laziness
•   Sleeping problems
•   Psychiatric issue
•   Trouble in moving eyes up and down( feel difficulty in making eye contact)
•   Throat infection

Causes of Niemann pick disease

There are different causes in different types of Niemann pick type disease

Niemann- Pick type A

The Niemann pick type disease A occurs when any change takes place in a gene such as SMPD1

Niemann- Pick type B

Niemann Pick type B disease occurs when any change takes place in the gene such as SMPD1 but the symptoms of type A and B are different and they affect the different organs of the body. It is common in the Ashkenazi (Eastern European)

Niemann Pick type C disease

The Niemann Pick type C disease occurs when the change takes place in genes such as NPC1 and NPC2. The Niemann Pick type C occurs in the Puerto-Ricans of Spanish ancestors. When the body is unable to break the fats, and cholesterol then types C disease occurs.

Niemann-pick type D disease

When there is difficulty in the movement of cholesterol molecules between the brain cells then type D occurs. This Niemann pick type D disease can be only seen in the French Canadian people.

Diagnosis and Treatments 

There is no treatment for type A and type B. However the patients who have the Niemann pick type C disease in their moderate state can be treated by using the following processes.

DNA test

It is performed to determine which type of Niemann pick disease the patient has.

Skin examination

In this examination, the lesions are removed from the body and the cherry-red spot in the eye is also examined.

Bone marrow transplant

As the fast accumulation takes place in the bone marrow, the bone marrow becomes damaged and it is surgically removed.

Liver examination

The fats or cholesterol gather in the liver as the enzyme required for fat digestion is absent and the liver becomes enlarged and damaged which is then removed completely or its damaged parts.

Eye examination

There’s a device known as a slit lamp having high-resolution power. This instrument is used for an eye examination to see cherry-red spots clearly.

There is no specific treatment for this disease however, the mild stage can be treated by the above tests.

Prevent measures

A Healthy and low cholesterol diet is recommended but as mentioned above no specific treatments are available for types A and B. ^[1]Niemann-Pick disease (medlineplus.gov) ^[2]Niemann–Pick disease (brainfoundation.org.au) ^[3]https://www.e-cep.org/upload/pdf/2006491216-20070113184513.PDF ^[4]consensus-clinical-management-guidelines-for-niemann-pick-disease-type-c.pdf (spdm.org.pt)

Reviewed by:
Dr. Shafaat Yar Khan  (Ph.D.) 
Medical University of Vienna, Austria 
Present: University of Sargodha, Pakistan

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