Niemann Pick Disease is a hereditary disease that affects the metabolism of lipids or the way fats, lipids and cholesterol are stored in or excreted from your body. People with Niemann Pick Disease have abnormal fat Metabolism, which contributes to a harmful level of lipids in various organs.(1) The disease mainly affects:

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This leads to an enlargement of the spleen and neurological problems. The disease is divided into types A, B, C and E. Originally there was a type D, but research has found that it is a type C variant.(2)

Types A and B Niemann Pick diseases are referred to as Type 1. Type C is called Type 2. Type E is a less common version of Niemann-Pick, which develops in adulthood.

Affected organs, symptoms, and treatments vary according to the type of Niemann Pick disease. However, each type is severe and can shorten a person's life expectancy.(3, 4)

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Home Remedies For Niemann Pick Disease

No home remedies for Niemann Pick disease are presently available and there are only supports treatments. Progressive neurological degeneration and infection generally cause the children to lose their lives. No efficient therapy is presently available for people with form A. A few people with form B were tested for effectiveness of bone marrow transplantation. For Type B, it may be useful to develop potential gene therapies and enzyme replacement approaches. Restricting your diet has no effect in preventing cell and tissue lipid build-up.

Common Symptoms Of Niemann-Pick Disease

The symptoms of the “Type A” form of Niemann Pick disease occurs in the first few months of life and include:

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  • Swelling of the abdomen by enlargement of the liver and spleen, which usually occurs at the age of 3-6 months
  • Lymphadenopathy
  • A cherry-red spot in the eye
  • Difficulty in feeding
  • Difficulty in performing the basic motor skills
  • Bad muscle tone
  • Brain damage along with other neurological problems such as reflex loss
  • Pulmonary disease
  • Frequent respiratory tract infections(2)

The symptoms of the type B form of Niemann Pick disease usually occur in late childhood or adolescence. Type B does not include motor difficulties that commonly occur with Type A. The typical symptoms of these two types are:

Swelling of the abdomen by enlargement of the liver and spleen, and often begins in early childhood:

  • Respiratory infections
  • Low platelets
  • Bad coordination
  • Mental retardation and disorder
  • Peripheral nerve problems
  • Lung problems
  • High lipids in the blood

Sometimes there is delayed growth or developmental dysfunction at a normal rate that causes dwarfism and ocular abnormalities.

The symptoms of the type C form of Niemann Pick disease usually occur in children around the age of 5 years. Type C, however, can occur at any time in a person's life, from birth to adulthood. Type E affects adults only. This type is quite rare and research on this condition is limited, but the signs and symptoms include swelling of the spleen or brain and neurological problems such as Swelling in the nervous system.(2)

Causes Of Niemann Pick Disease

Types A and B: Types A and B occur when the enzyme acid sphingomyelinase (ASM) is not properly produced in the white blood cells. ASM is an enzyme that helps to remove fats in all cells of your body.

Sphingomyelin, the fat that is removed ASM, can accumulate in your cells if ASM does not degrade it properly. When sphingomyelin accumulates, the cells begin to die and the organs no longer function properly.(4)

Type C and E: Type C Niemann Pick disease is primarily about the body's inability to efficiently remove excess cholesterol and other lipids. Without proper breakdown, cholesterol builds up in the spleen and liver, and too many other fats are deposited in the brain. The former "type D" occurs when the body cannot properly move cholesterol between the cells of the brain. It is assumed that this is a variant of type C. Type E is a rare form of Niemann-Pick disease that occurs in adults. Little is known about it.(3)

Conclusion

Niemann Pick Disease is a rare hereditary disorder where your body cannot metabolize cholesterol and lipids present within the cells causing their buildups. Eventually, the cells die due to lipid buildup over time. The disease has no cure and usually affects children and is extremely fatal. No practical home remedies can control the disease or offer potential relief.

References:  

  1. Pineda M, Juríčková K, Karimzadeh P, et al. Disease characteristics, prognosis and miglustat treatment effects on disease progression in patients with Niemann-Pick disease Type C: an international, multicenter, retrospective chart review. Orphanet journal of rare diseases. 2019;14(1):32.
  2. Vanier MT. Niemann–pick diseases. Handbook of clinical neurology. Vol 113: Elsevier; 2013:1717-1721.
  3. Vanier MT. Niemann-Pick disease type C. Orphanet journal of rare diseases. 2010;5(1):16.
  4. Schuchman EH, Desnick RJ. Types a and B Niemann-pick disease. Molecular genetics and metabolism. 2017;120(1-2):27-33.

Also Read:

Pramod Kerkar

Written, Edited or Reviewed By:

, MD,FFARCSI

Pain Assist Inc.

Last Modified On: August 29, 2019

This article does not provide medical advice. See disclaimer

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