Niemann Pick disease (NPD) is a group of diseases passed down through genetics that affects many body organs. Niemann Pick disease symptoms vary based on severity. Medical studies show that this disorder is classified into three main types namely type A, type B and type C. The classification is purely based on their genetic cause. In addition, the signs and symptoms of Niemann Pick disease also play a vital part in their classification.
The typical symptom of Niemann Pick is enlarged liver and spleen. This often occurs when the infant is three months or older. They show underweight and experience difficulties in gaining weight. Niemann Pick disease is a progressive condition, thus as the infants grow the disease progresses and eventually the kids fail to survive. Perhaps this is a fatal disease.
What Are The Ways To Prevent Niemann Pick Disease?
People affected with Niemann Pick disease experience symptoms are often associated with progressive loss of function of nerves, the brain, and other organs. Medical research is carried out to identify a complete cure for Niemann Pick disease since most cases are severe and fatal.
In Niemann-Pick disease, harmful quantities of lipids accumulate in the brain, spleen, liver, lungs, and bone marrow. Children affected with this condition show varied symptoms depending on their age and severity range.
When a child is diagnosed with Niemann Pick disease immediately after birth due to liver enlargement, by the time when they complete their first year, they start experiencing progressive loss of mental abilities and psychomotor regression. The general symptom of Niemann Pick that is noticed in almost all children is a cherry red spot which is identified with an eye examination.
People often wonder if there is any way to prevent this condition. However, Niemann Pick disease is a rare genetic disorder that is caused by the mutation of the SMPD1 gene which is found in lysosomes. These genes are responsible for the buildup of fats resulting in malfunctioning of the cells and eventually die. Medical trials estimate that Niemann Pick disease is a progressive condition. Therefore, it is neither preventable nor controlled.1,2
Recurrent Gene Mutation In Niemann Pick Disease
An important implication of recurrent mutation in Niemann Pick disease is, it is a gene that harbors frequent mutations in its genomic groups in more tumors than anticipated by chance. NPD is apparently an autosomal recessive lysosomal storage and there are three predominant Type A mutations and one recurrent Type B mutation.
A systematic literature review on Niemann Pick disease in the last 10 years until May 2017 was carried out using Medline. The research identified 276 abstracts that were accepted. However, the developing guidelines for this rare, recurrent disease is challenging owing to the lack of randomized controlled trials. Clinical evaluation of Niemann Pick disease severity is often based on the professional expertise of the treating doctor, but such medical assessment may not be reliable when the disease is rare, and most clinicians have limited exposure to the condition. Therefore, life expectancy in patients with NPC disease varies with the age of onset of the disease and ranges from a few days to several decades.
Regarding recurrence, a study was conducted on many multiplex families in the neurological form. The trials concluded that Niemann Pick disease is defined by age of onset of neurological symptoms, regardless of the age of onset of the systemic disease.3, 4
Patients with a retrospective diagnosis of Niemann-Pick C disease in the initial stages have been regarded as juvenile Niemann Pick disease with vertical supranuclear ophthalmoplegia. A number of other recurrent NPC1 mutations seem to be associated with the adult neurological onset of the disease. Some of them preferentially found in patients from the defined ethnic origin and also due to variant biochemical phenotype.
- Niemann Pick Disease- What research is being done? https://www.ninds.nih.gov/Disorders/All-Disorders/Niemann-Pick-Disease-Information-Page
- Medical encyclopedia- Niemann Pick Disease https://medlineplus.gov/ency/article/001207.htm
- Niemann Pick Disease Type A and B- Recurrent Mutations https://www.sickkids.ca/paediatriclabmedicinems/test-catalogue/Genome-Diagnostics/41768.html
- Clinical Management guidelines of Niemann Pick – The NPC1 and NPC2 proteins