Niemann Pick disease is a lysosomal lipid storage disorder developed as a result of mutations in specific genes related to how the body metabolizes fat. This gene provides instructions for producing an enzyme called acid sphingomyelinase that causes a buildup of harmful amounts of lipids in various organs.
Is Niemann Pick Disease A Progressive Disease?
Niemann-Pick disease (NPD), also called sphingomyelin-cholesterol lipidosis is a recurrent progressive syndrome related to splenomegaly (enlargement of the spleen) and other neurological disorder. Niemann Pick Disease type C is the most common type of occurrence diagnoses in almost 95% of cases. Clinical trials estimate that this condition is progressive and there is no cure for it.1
The progression of Niemann Pick Disease is highly indefinite. Even children from the same parent diagnosed with this condition progress invariably depending on the health and immune capabilities. Some children although born happy and healthy have a risk of acquiring Niemann Pick Disease. One such example was Stacy Lynee, a baby born healthy was diagnosed with this condition at 18 months of age due to splenomegaly. Since then the disease began to progress.
When she was 5, she started to experience vertical gaze palsy, slurred and repetitive speech, learning problems and cataplexy. By about seven years, she started with seizures and she had problems with balancing and the severity worsened. She was experiencing problems with speech, swallowing difficulties and she was no longer able to walk by herself. She started requiring assistance. Her condition started worsening as she grew. When she was thirteen, the poor child was confined to a wheelchair and the frequency of seizures increased, and she had chronic respiratory problems. Finally, she died at the age of nineteen.2
Alternative Treatments For Niemann Pick Disease
Until recently, the cause of Niemann-Pick Disease was unknown. However, with the recent advancement of medicine and through potential research, new sources have been identified in the diagnosis and treatment of Niemann Pick Disease. Since Niemann Pick Disease is an autosomal recessive disorder, it leads to the accumulation of cholesterol and glycosphingolipids in various neurovisceral tissues. To diagnose this condition, NP-C SI screening tool was recently developed by an international group of NP-C clinical experts.
Some symptoms of NP-C act as very strong indicators at different ages but shows very less in infants. Until recently, there was no curative treatment for NP-C however they are managed through disease-specific treatments and tissue & organ transplantation. Perhaps, bone marrow transplantation is very effective though there is regression and lung infiltration.
Similar research was conducted by a team of researchers in Tokyo Medical and Dental University. The introduced drugs that have the potential to reduce cholesterol in cells affected by this condition. But the unfortunate part was, the side effects were humongous, and it produced toxic results. Since this research was not successful, they found another compound that reduced cholesterol levels inside the cells and showed negligible toxicity in human skin cells.
There are some home remedies you can follow to help control the symptoms. Although these remedies such as a combination of low cholesterol diet and hypocholesterolemic drugs don’t provide a cure or improve the neurological manifestations yet they can partially reduce the cholesterol load in the liver.
Also, Physical therapy is an important part of treatment to help maintain mobility as long as possible.3, 4
Conclusion
In the present condition, medical studies estimate that there is no cure for Niemann Pick Disease. Nevertheless, there are supportive treatments to help manage the symptoms. But unfortunately, children affected with Niemann Pick Disease usually die from infection and due to the progressive disability of nerve function. Although, there are no effective treatments for type A Niemann Pick Disease, still, bone marrow transplantation has produced better results in individuals with type B.
- Overview of Niemann Pick Disease https://www.uptodate.com/contents/overview-of-niemann-pick-disease
- The Progression of Niemann Pick Disease https://nnpdf.org/the-disease/the-progression-of-niemann-pick-disease/
- Use of complementary and alternative medicine by patients with lysosomal disease https://www.nature.com/articles/gim2009107.pdf?origin=ppub
- Potential treatment for Niemann-Pick type C disease https://www.sciencedaily.com/releases/2016/11/161102135231.htm
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