What Happens To Untreated Niemann Pick Disease & When To Go To Doctor?

Niemann Pick disease (NPC) is a sporadic, advancing, recurrent disease leading to disabling nerve functions and premature death. It affects the body’s ability to metabolize fat (cholesterol and lipids) within cells. Over a period, these cells start to malfunction and lead to failure of functions in nerves, brain, spleen and bone marrow. In the worst-case scenario, it causes serious inflammation in the lungs.

Medical research is carried out to find a cure for this condition. In fact, it is a fatal syndrome and usually, children die from infection or progressive neurological loss. The death incidence estimates around 1 to 120,000 live births, however clinical studies still states that it is only an underestimate. Niemann pick is likely to have more premature deaths.

The age of onset, symptoms, and severity of Niemann Pick disease (NPD) often differ based on the type (Type A, Type B, Type C1 or C2). Medical studies regard that type A is the most severe condition and perhaps fatal. It usually develops within a few months of birth and progresses very rapidly. Early signs of this condition include

• Clumsiness and difficulty in walking
• Swelling of the abdomen from enlargement of the liver and spleen, this usually occurs around 3-6 months of age.
• Involuntary writhing movements in fingers, hands, toes, and feet
• Intellectual disability
• Recurrent respiratory infections
• Feeding difficulties in infancy

Niemann pick disease-A, particularly, is most prevalent in people of Ashkenazi (Eastern and Central European) Jewish lineage and impacts in 1 in 40,000 Ashkenazi Jewish infants. If your infant shows any of these symptoms, don’t delay in approaching your infant’s pediatrician instantaneously.

Preliminary clinical reports show that this condition can maintain brain volume in treated patients compared with untreated control subjects because the serious complications of untreated Niemann pick disease can develop immediately after birth. Therefore, it is often recommended to complete the follow-up testing as soon as possible to determine whether or not your baby is infected with this condition.

Although detection of the Niemann pick disease is complicated and remains challenging due to the highly heterogeneous symptoms of this condition. Moreover, single findings are often insufficient, therefore a thorough analysis should be done when the diagnosis is lacking.^1. 2

Go to the emergency immediately if you or your child shows warning symptoms of Niemann-Pick disease. If your child is diagnosed with this condition, do not panic, you are not alone, the center for rare disease therapy is there to help. Mayo Clinic has one of the prime and the most professional doctors in the United States and they guarantee excellent care and positive recovery.

Your doctor may ask you if your baby is showing any of the signs of Niemann-Pick disease. When your doctor suspects for specific signs, they will suggest for immediate therapies. Generally, this is carried out through a newborn screening test when the Niemann Pick disease tests are not normal. Statewide screening of newborns for lysosomal storage disorders is done since 2014.

When newborn screening is suggested, many parents often have a fear of whether their infant is affected by Niemann pick disease. Nevertheless, it is not necessary that the infant will be affected by this disease. It may be also due to blood test performed too early. But unfortunately, in many cases, children get infected with Niemann Pick disease so it is highly recommended to go for a follow-up appointment for a confirmatory test. This will usually check for the signs of Niemann Pick disease.

As everyone knows, Niemann Pick is a condition where the breakdown of body fat is not happening properly. Therefore, these tests will confirm the deficient activity of the enzyme and the presence of this syndrome. When diagnosed early, you can start with the treatment immediately and prolong the lifespan of the child.³

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Also Read:

• Niemann-Pick Disease: Types, Causes, Symptoms, Diagnosis, Treatment, Prognosis, Prevention