Niemann Pick

Niemann Pick

overview

Niemann-Pick is a rare inherited disease that affects the body's ability to metabolize fat (cholesterol and lipids) within cells. These cells fail and die over time. Niemann-Pick disease can affect the brain, nerves, liver, spleen, bone marrow and, in severe cases, the lungs.

People with this condition experience symptoms related to progressive loss of function of nerves, brain, and other organs.

Niemann-Pick can occur at any age but mainly affects children. The disease has no known cure and is sometimes fatal. Treatment focuses on helping people live with their symptoms.

Niemann-Pick care

Symptoms

Signs and symptoms of Niemann-Pick can include:

• Ungeschicklichkeit und Schwierigkeiten beim Gehen
• Übermäßige Muskelkontraktionen (Dystonie) oder Augenbewegungen
• Schlafstörungen
• Schwierigkeiten beim Schlucken und Essen
• Wiederkehrende Lungenentzündung

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 show signs and symptoms in the first few months of life. Those with type B may not show signs for years and have a better chance of surviving into adulthood. People with type C may not experience symptoms until adulthood.

When to go to the doctor?

See your doctor immediately if you or your child develops warning signs of Niemann-Pick.

Causes

Niemann-Pick is caused by mutations in specific genes related to how the body metabolizes fat (cholesterol and lipids). The Niemann-Pick gene mutations are passed from parents to children in a pattern called autosomal recessive inheritance. This means that both the mother and father must pass on the faulty form of the gene for the affected child.

Niemann-Pick is a progressive disease and there is no cure. It can occur at any age.

Types of Niemann pick

Types A and B

Types A and B are caused by a missing or malfunctioning enzyme called sphingomyelinase. This impairs the body's ability to metabolize fat (cholesterol and lipids), resulting in a buildup of fat in cells. This leads to cell disruption and, over time, cell death. Type A occurs primarily in infants who have severe, progressive brain disease. There is no cure, so most children do not live beyond their first few years. Type B usually occurs later in childhood and is not associated with a primary brain disease. Most people with type B survive into adulthood.

Type C

Niemann-Pick type C is a rare hereditary disease. The genetic mutations of this type cause cholesterol and other fats to build up in the liver, spleen or lungs. Finally, the brain is also affected.

Niemann-Pick care

Sources:

1. Patterson MC. Überblick über die Niemann-Pick-Krankheit. http://www.uptodate.com/home. Abgerufen am 31. Oktober 2016.
2. Patterson MC, et al. Stabile oder verbesserte neurologische Manifestationen während der Miglustat-Therapie bei Patienten aus dem internationalen Krankheitsregister für die Niemann-Pick-Krankheit Typ C: Eine beobachtende Kohortenstudie. Orphanet Journal of Rare Diseases. 2015;10:65. http://ojrd.biomedcentral.com/articles/10.1186/s13023-015-0284-z. Abgerufen am 31. Oktober 2016.
3. Niemann-Pick-Krankheit. Merck Manual Professional-Version. https://www.merckmanuals.com/professional/pediatrics/inheriteddisordersofmetabolism/Niemannpickdisease. Abgerufen am 31. Oktober 2016.