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How To Diagnose Niemann Pick Disease & What Is The Best Medicine For It?

Niemann Pick disease is a hereditary disease that interferes with lipid metabolism. As a result, fats, cholesterol, and lipids are not stored or removed effectively as they should, which leads to a build-up of harmful levels of lipids in particular organs. The most affected organs are the liver, bone marrow, spleen, and brain. Niemann Pick disease is categorized into Type A, Type B, Type C, and the lesser common Type E. Treatment is administered depending on the type and the symptoms one exhibits. Also, the affected organs are taken into consideration. Regardless, Niemann Pick disease is a serious condition which can reduce the life expectancy of affected individuals.[1]

How To Diagnose Niemann Pick Disease?

In the diagnosis of Niemann Pick disease, a patient undergoes a thorough physical exam to determine whether they have any early signs of the illness. the example, a swollen spleen or liver, which is seen as an early indication of the disease. Since it is an inherited condition, the doctor will also review your family history. Niemann Pick disease is a rare condition and its symptoms may be similar to other conditions. Therefore, proper diagnosis is essential in treating this disease, and this is done by diagnosis it with regards to the type one has.

For type A and B, diagnosis is done either via a blood test, bone marrow, or skin biopsy. The tests are essential in identifying how much sphingomyelinase is present in the white blood cells so as to make the disease diagnosis. In cases of type C, the disease is diagnosed by undertaking a skin biopsy to determine how cells move and store cholesterol.

Other than that, your doctor may order other tests such as a brain MRI, genetic test, eye examand a prenatal test. A brain MRI is crucial in finding out if any loss of brain cells has occurred, especially when the condition has advanced. For some patients, they may have symptoms of eye movement difficulties, which is considered a sign of the disease, and an eye exam can help determine that symptom. Prenatal testing is essential in the detection of an enlarged spleen or liver. Finally, genetic testing may be performed to determine the specific abnormal genes that are causing the specific type of Niemann Pick disease.[2]

What Is The Best Medicine For It?

Niemann Pick disease has no cure, and treatment is usually supportive, which helps in managing all types of the condition. For Type A, most patients with the condition, often children die at infancy due to infection or progressive neurological loss. Cases of Type B can be managed using bone marrow transplants, gene therapy or enzyme replacement therapy. In Type C, miglustat is currently used in treating the condition. Miglustat is an enzyme inhibitor drug that works by preventing the body from producing fatty substances so as to reduce lipid and cholesterol build-up in your body. Additionally, physical therapy helps with mobility.[1] [3]

What Are The Symptoms Of Niemann Pick Disease?

Symptoms for Niemann Pick disease vary depending on the type one is diagnosed with. Infants with Type A Niemann Pick disease exhibit symptoms such as slow physical growth delayed cognitive development, cherry red spot inside the eye, weak muscles and muscle tone, problems feeding, lung disease and frequent respiratory infections, as well as enlarged liver and spleen. For kids with Type B, they may exhibit symptoms of enlarged liver and spleen, lung problems and respiratory infections, psychiatric disorders, breathing difficulties, peripheral nerve issues, delayed growth, and even bleeding. In Type C, the common symptoms include; delayed learning, dementia, seizures muscle weakness, tremors, and reduced coordination.[1] [4]


Niemann Pick disease is an ailment associated with poor metabolism of fats (lipids and cholesterol). Type A and B are associated with a deficit in an enzyme known as acid sphingomyelinase, and a blood test or bone marrow test can be done to determine its presence or lack of. On the other hand, type C can be diagnosed via a skin biopsy to evaluate how fats are moving between cells in the body. There is no medicine that can cure the disease, but an enzyme inhibitor, miglustat, is currently being given to help reduce the build-up of fats in the body.


Also Read:

Pramod Kerkar, M.D., FFARCSI, DA
Pramod Kerkar, M.D., FFARCSI, DA
Written, Edited or Reviewed By: Pramod Kerkar, M.D., FFARCSI, DA Pain Assist Inc. This article does not provide medical advice. See disclaimer
Last Modified On:August 21, 2019

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