Overview
Niemann-Pick is a rare, inherited disease that affects the body's ability to metabolize fat (cholesterol and lipids) within cells. This results in cell malfunction and eventual cell death. The disease can impact various organs, including the brain, nerves, liver, spleen, bone marrow, and lungs. Symptoms include clumsiness, difficulty walking, muscle contractions, sleep disturbances, swallowing issues, and recurrent pneumonia. Niemann-Pick has no known cure and is sometimes fatal. It can occur at any age, with types A and B being caused by a missing or malfunctioning enzyme called sphingomyelinase, and type C resulting from genetic mutations that cause cholesterol and fats to accumulate in the liver, spleen, or lungs. Symptoms depend on the type and severity of the condition.
Understanding the disease
Symptoms
The symptoms of Niemann-Pick disease may include clumsiness and difficulty walking, excessive muscle contractions (dystonia) or eye movements, sleep disturbances, difficulty swallowing and eating, and recurrent pneumonia. The symptoms can vary depending on the type of Niemann-Pick, with types A and B being caused by a missing or malfunctioning enzyme called sphingomyelinase, and type C being caused by genetic mutations that lead to cholesterol and other fats accumulating in the liver, spleen, or lungs. If you or your child develops warning signs of Niemann-Pick, it is important to see a doctor right away.
Development
The various types of Niemann-Pick disease develop due to mutations in specific genes related to the body's ability to metabolize fat (cholesterol and lipids). The Niemann-Pick gene mutations are passed from parents to children in an autosomal recessive inheritance pattern, meaning both the mother and the father must pass on the defective form of the gene for the child to be affected. There are three main types of Niemann-Pick disease: types A, B, and C. Types A and B are caused by a missing or malfunctioning enzyme called sphingomyelinase, which affects the body's ability to metabolize fat. Type A mainly affects infants, causing severe, progressive brain disease, and typically results in death within the first few years of life. Type B usually occurs later in childhood, is not associated with primary brain disease, and is more likely to be survived into adulthood. Type C is a rare inherited disease caused by genetic mutations that result in the accumulation of cholesterol and other fats in the liver, spleen, or lungs. The brain is eventually affected as well. Symptoms of Niemann-Pick disease include clumsiness, difficulty walking, excessive muscle contractions or eye movements, sleep disturbances, difficulty swallowing and eating, and recurrent pneumonia. It is important to see a doctor right away if you or your child develops warning signs of Niemann-Pick disease, as there is no cure and treatment primarily focuses on managing symptoms.
Assessment and Diagnosis
Triage
You should see a doctor right away if you or your child develops warning signs of Niemann-Pick. These warning signs include clumsiness and difficulty walking, excessive muscle contractions or eye movements, sleep disturbances, difficulty swallowing and eating, recurrent pneumonia, or any appearance of signs and symptoms for no apparent reason that continue to enlarge or have been present for two to four weeks. Additionally, if these symptoms are accompanied by a persistent fever, night sweats, or unexplained weight loss, it is important to seek medical attention promptly.
Diagnosis
To diagnose Niemann-Pick disease, a thorough physical exam, medical history, and discussion of symptoms and family health history are conducted. For types A or B, experts measure the level of sphingomyelinase in white blood cells using a blood or skin sample (biopsy). For type C, a small skin sample is tested to assess cholesterol movement and storage in cells. Additional tests may include magnetic resonance imaging (MRI), eye exams, genetic testing, and prenatal testing.