Who Is At Risk For Niemann Pick Disease & Is There A Blood Test For It?

Niemann-Pick is a rare, genetic disorder that affects the lipid metabolism which prevents the body’s ability to metabolize fat (cholesterol and lipids) within cells. People with Niemann Pick Disease have an abnormal lipid metabolism that causes a buildup of harmful substances within various tissues of the body, including brain tissue, spleen, liver, lungs, and bone marrow.

It has a wide range of symptoms that vary in severity. People with this condition experience symptoms associated with a gradual declination of nerve functionalities, in addition to brain and other organs. This syndrome can occur in individuals of all ages however they show more severity towards children.

Niemann Pick Disease is classified into four types based on genetic cause and the signs and symptoms of the condition. Let us see about the types in brief and explore who have a higher risk of acquiring this disease:

Niemann Pick Disease Type A-This is a genetic disorder in which sphingomyelin (ceramide phosphorylcholine) accumulates in cells of infants and young children. Infants affected with Niemann Pick syndrome with type A generally develop an enlarged liver and spleen within three months. These kids fail to gain weight and the disease progresses at the determined levels.

When children are affected with this condition, the symptoms are subtle in the initial months and they build-up until around age 1, nevertheless, they start showing mental disabilities and difficulties in their movements. Type A typically results in interstitial lung disease and this can even lead to respiratory failure.

Niemann Pick Disease Type B-This is very a similar condition to type A however the patient may develop fatty, irregular yellow patches or nodules on the skin of the eyelids, neck or back which is often related to the interferences in lipid metabolism. This is often due to the low platelet count and recurrent lung infections. Individuals in their mid-childhoods have a higher risk of acquiring this type. Unlike type A where the condition is fatal, type B patients survive and lead their adulthood stage. Types A and B usually arises by a failing or malfunctioning enzyme called sphingomyelinase.^1, 2

Niemann Pick Disease Type C1 & C2-Type C is a lipidosis that is caused by a build-up of cholesterol and other fats (lipids) in the cells. This stage occurs when the body is not able to break down cholesterol and other lipids. Children with type C develop seizures and neurologic deterioration. In most cases, they die before age 20. Medical studies estimate that around 150,000 people have been affected by this type. Approximately 50% of cases were identified before 10 years of age.³

Generally, the diagnosis of this disease begins with a complete analysis because these examinations will help you identify liver or spleen enlargement. When it comes to type A or B, a simple blood test can diagnose the presence of this infection in the white blood cells. Even a biopsy helps you diagnose this condition. Research is going on to identify the disease through simple blood tests to make it possible to begin treatment earlier to improve quality of life and to further extend lives.

There are other tests as well to diagnose this condition that includes

• Magnetic Resonance Imaging
• Eye exam
• Genetic testing
• Prenatal screening testing

Before birth, Niemann Pick disease types A and B can be diagnosed in the fetus with the help of prenatal screening tests. However, after birth, this syndrome can be diagnosed through newborn screening and liver biopsy. When the disease is through a genetic disorder, it can be examined through genetic testing.^4, 5

References:  

Also Read:

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