Definition

What is Niemann-Pick?

Niemann-Pick disease (NPD) is a group of diseases passed down through families (inherited) in which fatty substances called lipids collect in the cells of the spleen, liver, and brain.

There are 3 common forms of the disease:

  • Type A
  • Type B
  • Type C

Each type involves different organs. It may or may not involve the nervous system and breathing. Each one can cause different symptoms and may occur at different times throughout life.

How common is Niemann-Pick?

Niemann-Pick is a rare disease. Niemann-Pick can occur at any age but mainly affects children. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of Niemann-Pick?

The common symptoms of Niemann-Pick are:

  • Clumsiness and difficulty walking
  • Excessive muscle contractions (dystonia) or eye movements
  • Sleep disturbances
  • Difficulty swallowing and eating
  • Recurrent pneumonia

The three main types of Niemann-Pick are types A, B and C. The signs and symptoms you experience depend on the type and severity of your condition. Some infants with type A will show signs and symptoms within the first few months of life. Those with type B may not show signs for years and have a better chance of surviving to adulthood. People with type C may not experience any symptoms until adulthood.

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes Niemann-Pick?

Niemann-Pick types A and B occur when cells in the body DO NOT have an enzyme called acid sphingomyelinase (ASM). This substance helps break down (metabolize) a fatty substance called sphingomyelin, which is found in every cell in the body.

If ASM is missing or does not work properly, sphingomyelin builds up inside cells. This kills your cells and makes it hard for organs to work properly.

Type A occurs in all races and ethnicities. It is more common in the Ashkenazi (Eastern European) Jewish population.

Type C occurs when the body cannot properly break down cholesterol and other fats (lipids). This leads to too much cholesterol in the liver and spleen and too much of other lipids in the brain. Type C is most common among Puerto Ricans of Spanish descent.

Type C1 is a variant of type C. It involves a defect that interferes with how cholesterol moves between brain cells. This type has only been seen in French Canadian people in Yarmouth County, Nova Scotia.

Risk factors

What increases my risk for Niemann-Pick?

Please discuss with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Niemann-Pick diagnosed?

A blood or bone marrow test can be done to diagnose types A and B. The test can tell who has the disease, but does not show if you are a carrier. DNA tests can be done to diagnose carriers of types A and B.

A skin biopsy is usually done to diagnose types C and D. The health care provider watches how the skin cells grow, move, and store cholesterol. DNA tests may also be done to look for the 2 genes that cause this type of the disease.

Other tests might include:

  • Bone marrow aspiration
  • Liver biopsy (usually not needed)
  • Slit-lamp eye exam
  • Tests to check level of ASM

How is Niemann-Pick treated?

At this time, there is no effective treatment for type A.

Bone marrow transplants may be tried for type B. Researchers continue to study possible treatments, including enzyme replacement and gene therapy.

A new medicine called miglustat is available for the nervous system symptoms of type C.

High cholesterol may be managed with a healthy, low-cholesterol diet or medicines. However, research does not show that these methods stop the disease from getting worse or change how cells break down cholesterol. Medicines are available to control or relieve many symptoms, such as sudden loss of muscle tone and seizures.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Niemann-Pick?

Please discuss with your doctor for further information.

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: November 24, 2017 | Last Modified: November 24, 2017

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