Niemann Pick disease is an autosomal recessive disorder that arises due to mutations in the NPC 1 or NPC 2 gene. It is associated with poor lysosomal metabolism inclusive of the way lipids are broken down, transported and stored. Due to these abnormalities, the lipids and other fatty substances accumulate in cells across the body and organs.
Niemann Pick disease is rare with an occurrence incidence of 1:100,000 live births. Most cases are as a result of NPC 1 gene, which accounts for 95% of disease occurrence and the rest is attributed to by NPC 2 gene mutation. The life expectancy and clinical manifestation of Niemann Pick disease is variate and depends on the onset of the condition and at what age. It can range from a neonatal rapidly progressive fatal disorder to an adult-onset chronic neurodegenerative disease.
What To Eat & Avoid When You Have Niemann Pick Disease?
Management of Niemann Pick disease is aimed at ways to slow down the disease progression and offer patients, often children, a better quality of life by all means. The disease is usually treated with miglustat that is found in the drug Zavesca. Miglustat is an enzyme inhibitor that reduces the levels of fats collecting in cells and organs as well by inhibiting your body from producing fatty substances. Cyclodextrin has also proven to perform very effectively alongside Miglustat in the stabilization and even improvement of some neurological symptoms such as muscle tone, dysphagia, and cognition. Possible side effects of the medication administered can be managed with a good diet – well-balanced, healthy, and delicious diet.
For patients undergoing treatment with Miglustat, it is recommended that they should avoid all white pasta foods such as white bread, pasta, cakes, to name a few, sugary foods, and foods containing lactose in particular, all dairy products. Foods that should be eaten in moderation include; whole grains e.g. bread, noodles and cakes made with wholemeal flour, and sweetened foods with sweeteners and soy-based drinks such as milk, yogurts, and cheeses. Other foods that should be moderately consumed are potatoes and brown rice due to the symptom of diarrhea, which can be associated with these foods. In cases where food swallowing is problematic, food that may cause gagging should be avoided. The lactose-free formula should be included for kids under the age of 1 year, and those who are under 10kgs to prevent gastrointestinal disturbance due to lactose intolerance, which can lead to diarrhea. A diet may be adopted to enhance good health and reduce the risk of some of the symptoms of Niemann Pick disease, but you should keep it in mind that diet restrictions do not prevent the buildup of lipids in cells and tissues.
The Prognosis And Management Of Niemann Pick Disease
The prognosis of Niemann Pick disease is correlated with the age at which neurological symptoms start. For infants with early onset of disease symptoms, the condition progresses much faster and are likely to die between the ages of 3-5 years. For kids with late-onset of disease symptoms, they can live up to seven or twelve years old.
Adding to that, the prognosis of Niemann Pick disease worsens when infants develop complications such as hepatic or respiratory failure, dysphagia, epilepsy, and other infections which increase the risk of death. There is no curative treatment for this disease, but disease progression can be reduced with various treatments including symptoms management, organ/tissue transplantation, and enzyme replacement therapy. The approved medicine used to treat Niemann Pick disease is Miglustat, which has proven effective in stabilization of neurological manifestations of the disease.
There is no specific diet for patients with Niemann Pick disease. Furthermore, most of them are usually infants, who are born with the condition. In such cases, if you are feeding your baby with formula, opt for lactose-free formula milk, to avoid incidences of diarrhea. For older kids, the best you can do for them is to provide a well-balanced, nutritious meal, and delicious, so that they can enjoy eating and at the same time gain required nutrients. Niemann Pick disease cannot be prevented, but it is wise that prior to getting children, you get genetic testing so that you are prepared for anything.
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