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How Dangerous Is Niemann Pick Disease & Is It Contagious?

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Niemann Pick disease is a serious and life-threatening condition. It affects various vital organs of the body. The condition is caused due to gene mutation. Niemann pick disease is a non-contagious disease.

How Dangerous Is Niemann Pick Disease?

Niemann Pick disease is a rare disease. It is the disease which is inherited and occurs because of the gene mutation. Niemann Pick disease is a group of diseases and its various types include NPA, NPB, and NPC. All the above types are caused by a mutation in different genes. Different types of Niemann Pick disease have a different level of danger. Type A is the most dangerous with high fatality. Following are some of the complications of Niemann Pick disease:

  • Hepatosplenomegaly: This complication is most commonly seen in the patients suffering from Niemann Pick disease Type A. The liver and spleen of the patient gets enlarged. The condition is found in infants and the growth is generally retarded. Infants fail to gain weight.1
  • Central Nervous System Disorder: CNS is largely affected in Niemann Pick disease type A and type C. The patient suffers from mental retardation and development of physical skills gets delayed.2 The effects on the central nervous system are progressive and most patients with Niemann Pick disease type A dies within the first two years of life. Other symptoms related to the central nervous system involve dystonia, cataplexy, seizures, progressive dementia, and vertical gaze palsy.
  • Liver Failure: Liver failure occurs in all types of Niemann Pick disease. Liver diseases are severe in Niemann Pick disease. Liver disease includes persistent jaundice, cholestatic liver failure, and ascites.3 The patient suffers from hepatic fibrosis that may progress to cirrhosis.
  • Hemorrhage And Thromboembolism: In some patients of Niemann Pick disease, the platelets levels are low and may result in bleeding. Episodes of such bleedings require blood transfusions. It has also presumed that Niemann Pick disease is the condition characterized by prethrombotic stage which may result in thromboembolism.4
  • Oxygen Dependency: Patient suffering from Niemann Pick disease may also experience oxygen dependency. Progressive pulmonary disease is also seen in patients with this condition.
  • Splenic Rupture: Certain activities, such as contact sports, should be avoided in patients with Niemann Pick disease. These activities increase the risk of splenic rupture in patients with splenomegaly.
  • Pulmonary Infections: Patients with Niemann Pick disease experiences recurrent respiratory tract infection. Hypoxia, dyspnea, and interstitial lung disease are other manifestations of this condition.
  • Progressive Deterioration: Niemann Pick disease is a progressive condition which increases the severity of symptoms. It results in progressive intellectual deterioration in children and the liver disease also progresses to liver failure.
  • Blindness And Deafness: Niemann Pick disease also result in blindness and deafness. Eye paralysis and cloudiness in cornea because of the accumulation of materials may also occur in some patients. Almost 74% of the patient with Niemann Pick disease has hearing loss in at least one ear.5

Is Niemann Pick Disease Contagious?

Niemann Pick disease is a non-contagious disease. The condition is caused due to gene mutation. Diseases caused because of gene mutation are non-spreadable. The onset of symptoms is highly variable in this disease. The disease is divided into Type A, B, and C. While type A and B are diagnosed with the help of blood sample, type C is diagnosed by analyzing skin sample. Type A and B is caused due to a mutation in the SMPD1 gene while type C is caused due to the mutation in NPC 1or NPC 2 gene. The condition has an autosomal recessive inheritance6 which indicates that both the copies should be mutated for developing the disease.

Conclusion

Niemann Pick disease is a highly dangerous disease. It affects various vital organs. Complications include liver failure, oxygen dependency, hemorrhage, blindness, deafness, and splenic rupture. The condition is non-contagious and is caused due to gene mutation.

References:  

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Team PainAssist
Team PainAssist
Written, Edited or Reviewed By: Team PainAssist, Pain Assist Inc. This article does not provide medical advice. See disclaimer
Last Modified On:August 19, 2019

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