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Is Niemann Pick Disease Fatal & Is It Dominant Or Recessive?

Niemann Pick is an inherited and rare type of disease, which affects the ability of a person to metabolize fat i.e. lipids and cholesterol within cells. With time, malfunction of the respective cells causes death.(1)

In other words, Niemann Pick disease involves the accumulation of sphingolipid amounts i.e. sphingomyelin within the lysosomes of human cells. Patients with type A and type B Niemann Pick disease fail to produce the enzyme of acid sphingomyelinase in enough amount to metabolize sphingomyelin. Excessive storage within the lysosomes may result in permanent tissue and cellular damages. Especially, the damage takes place in the spleen, liver, lungs, bone marrow and in the brain.(3)

Is Niemann Pick Disease Fatal?

Is Niemann Pick Disease Fatal?

The disease of Niemann Pick is fatal or not can be said based on the following aspects-

The Extent Of The Disease: Niemann-Pick disease affects the nerves, brain, spleen, liver and bone marrows. In addition, the severe form of the disease affects the lungs. People suffering from this condition often have symptoms associated with progressive functional loss in their brain, nerves and other essential body organs. The disease may take place at almost every age. However, it takes place mainly among children. Furthermore, Niemann Pick does not have any cure and in some cases, it becomes fatal. Hence, the treatment, in this case, focuses on assisting people to manage their symptoms.(1)

Frequency Of The Disease: Niemann Pick diseases of type A and type B affect 1 in about 250,000 people. Type A Niemann Pick takes place frequently among central European and Eastern people as compared to other general population of the world. On the other side, C1 and C2 types of Niemann Pick disease may take place in 1 individual among 150,000 people. However, type C1 is relatively more common type, as it accounts for approximately 95percent of total cases. Along with this, the disease takes place frequently among French Acadian people belonging to Nova Scotia. In the region of Nova Scotia, a group of people belonging to the affected French Acadians was designated as the patients of type D of Niemann Pick disease. However, the research report revealed that such individuals have genetic mutations related to type C1 of the disease.(2)

Is Niemann Pick Disease Recessive or Dominant?

Niemann Pick disease remains inherited within an autosomal recessive pattern. Accordingly, both alleles or copies belonging to the gene should be detective to cause the problem. Defective in this case indicates the alterations of genes to cause impairment in various body functions. In most of the cases, the parents of any child with autosomal type of recessive disorder form the carriers. They contain a single copy of the altered gene, but remains unaffected, as the other copy causes enzyme productions. When both parents play the role of carriers, each pregnancy has about 25percent chance to produce a Niemann Pick affected child. Hence, doctors always recommend genetic testing and genetic counseling for family members, who are probably the carriers of the fatal and recessive Niemann Pick disease.(2)

Symptoms Of Niemann Pick Disease

Common signs and symptoms of the disease include the following-

  • Difficulty in walking or standing and clumsiness feelings
  • Dystonia i.e. excessive level of muscular contractions
  • Eye movements in an abnormal way
  • Sleeping disturbances or sleeping disorders
  • Difficulty in eating and swallowing food and/or water
  • Recurrence of pneumonia(1)

Symptoms As Per Type Of Niemann Pick Disease And The Patient’s Age

According to doctors, Niemann Pick disease takes place in four different categories i.e. type A, type B, type C, and type D. However, doctors may diagnose and detect only types A and B while conducting newborn screening. Among these, type of A Niemann Pick disease is the severe one, as it has onset within only first 6months of a child’s life and causes his/her death by only 3years or 4years age. Common symptoms are spleen, enlarged liver, progressive weakness, cherry red-colored macule, and regression.

On the other side, type B type of patients experiences enlarged liver, abnormal serum lipids, spleen and progressive type of pulmonary disease. However, the positive thing, in this case, is that Niemann disease of type B does not cause any adverse effect on the central nervous system.


Also Read:

Sheetal DeCaria, M.D.
Sheetal DeCaria, M.D.
Written, Edited or Reviewed By: Sheetal DeCaria, M.D. This article does not provide medical advice. See disclaimer
Last Modified On:October 11, 2019

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