Niemann-Pick

1 What is Niemann-Pick?

Niemann-Pick disease is classified in three types: A, B, and C. The disease compromises the ability of the body to metabolize fat, including cholesterol and lipids. When the body fails to do this, fat accumulation within the cells occur, causing the cells to not function properly and ultimately die.

Although the disease affects children the most, Niemann-Pick can also occur in people within any age group. An inherited disease, Niemann-Pick typically affects the nerves, liver, bone marrow, spleen, and brain. In severe cases, the lungs are affected, which can be fatal. The symptoms initially show as it causes progressive deterioration of the nerves, organs, and brain.

The cure for Niemann-Pick is still unknown.

2 Symptoms

The symptoms of Niemann-Pick disease may include:

  • Hepatosplenomegaly or the enlargement of the liver and spleen
  • Reduced appetite
  • Pain
  • Abdominal distension
  • Thrombocytopenia or low platelet levels in the blood
  • Gait
  • Slurred speech
  • Dysphagia or difficulty in swallowing
  • Impaired eye movements
  • Sleep-related disorders like sleep inversion
Have a question aboutMetabolic Disorders?Ask a doctor now

3 Causes

Niemann-Pick disease is a condition that can be inherited in an autosomal recessive pattern.

It means that most of the time, the parents of the affected person are the carriers of the abnormal gene.

4 Treatment

Treatment methods for Niemann-pick vary depending on its type.

Niemann-Pick disease type A still has no known cure.

In patients with Type B, however, doctors usually try to maintain normal cholesterol levels. In case of other more severe symptoms, such as bleeding, blood transfusion may be needed.

5 Risks and Complications

Your risk for Niemann-Pick Disease is higher if both of your parents are carrier of the affected genes.

25% of pregnancies have a chance of producing children with the disease if both parents are carriers.

Top