A group of conditions that rarely happen and run in families is called Niemann-Pick disease. These disorders impact the body’s ability to break down fats (such as cholesterol and lipids) inside cells. As a result, a buildup of fats occurs over time which provokes the cells to die. These health conditions usually negatively affect the liver, nerves, spleen, bone marrow, brain, and sometimes lungs. The symptoms usually are different among the patients because it depends on the body part that is affected.
Although these conditions can impact anyone, they mostly occur in children. Unfortunately, there is no cure for Niemann-Pick disease and the treatment goal is to lessen the symptoms and improve the quality of life.
Symptoms
There are three primary types of Niemann-Pick disease (A, B, and C). The symptoms occur according to the type but mostly from its severity. Check below some of them:
- Deafness (hearing loss)
- Slurred speech
- Sensitivity to touch
- Vision changes (such as uncontrolled eye movement and blindness)
- Stiff movements
- Weakness and floppiness of the muscles
- Muscles control loss (including walking difficulties, clumsiness, and others)
- Sleeping disturbances (insomnia)
- Learning difficulties
- Memory problems
- Enlarged spleen or liver
- Recurrent infections that usually lead to pneumonia
If your child experiences any of the previous symptoms or you have concerns about his/her growth and development, discuss it with your healthcare professional.
Causes
This disease is caused by a DNA change that leads to the inability of the body to break down fats and use them. These include cholesterol and lipids. Usually, the mutated gene passes from biological parents to biological children. Moreover, biological children can develop this disease if both parents carry this abnormal gene.
Niemann-Pick Disease Categories
Types A and B
Both Niemann-Pick disease types are caused by a gene mutation (known as the SMPD1 gene). In some cases, this condition is called sphingomyelinase deficiency (ASMD). However, people with this gene mutation do not have an enzyme known as sphingomyelinase or it does not work well. Sphingomyelinase enzyme is required to break down and use lipids.
- Type A – This is the most severe form of Niemann-Pick disease and it starts in infancy. The most common symptoms include an enlarged liver, severe damage to the brain, and nerve loss. However, most children with this type A do not survive.
- Type B – This type is also known as juvenile-onset Niemann-Pick disease and it starts in later childhood. Unlike type A, this disease type does not cause brain damage. The most common symptoms include nerve pain, walking difficulties, vision changes, and enlarged liver and spleen. Moreover, people with type B can also experience lung problems that usually worsen over time. In addition, some people may experience symptoms that overlap between types A and B of the Niemann-Pick disease.
Type C
Unlike types A and B, the third type of this disease is provoked by changes in the NPC1 and NPC2 genes. In such cases, the body does not have enough proteins needed to move and use cholesterol and lipids in cells. If a person does not receive treatment, it may lead to fat buildup over time which can cause damage to the liver, spleen, lungs, nerves, and brain. As a result, eye movements that cannot be controlled and problems with walking, hearing, swallowing, and thinking.
Risk Factors
The risk factors are different for each Niemann-Pick disease type. This health problem runs in families and type A happens more frequently in people of Ashkenazi Jewish descent, type B in North African descent, and type C in Acadian and Bedouin descent. Moreover, if one of the children has this disease, the risk of the next one increases significantly. However, you can do a genetic test before pregnancy to determine the risk of Niemann-Pick disease.
Diagnosis
Diagnosis of this disease begins with a physical examination to check for liver and spleen abnormalities (such as increased size). Doctors can also ask you questions about symptoms and medical history. However, they will perform some tests to exclude other diseases that provoke similar symptoms. The tests physicians will perform depend on the type of disease you experience. For example, healthcare providers will get a sample of blood or skin to measure the amount of sphingomyelinase in white blood cells (for types A and B) but for the last Niemann-Pick disease type physicians will measure the levels of the cholesterol type (oxysterol).
Tests
- Genetic testing – Physicians will get a small amount of blood and send it to the laboratory to determine what gene provoked the disease. People with only one copy of the mutated gene are called carriers.
- MRI (magnetic resonance imaging) scan – This test is used to get detailed images of the liver, spleen, and brain. These images can help to determine damage to the brain and the size of the liver and spleen.
- Eye examination – This test is usually done to check for changes caused by this disease including uncontrolled eye movement.
- Prenatal testing – Healthcare providers can perform an ultrasound test to determine the size of the liver and spleen during pregnancy. Furthermore, doctors can diagnose Niemann-Pick disease by testing amniotic fluid and a sample of placenta.
Treatment
It is not possible to cure this condition but with early diagnosis and proper treatment, you can get rid of symptoms and improve your quality of life. Check below some treatment options:
Medications
Physicians usually prescribe olipudase alfa-rpcp to replace sphingomyelinase. However, it helps to reduce lung problems and the size of the liver and spleen. It also improves height growth in children but cannot relieve nerve-related symptoms. This medicine is given to the patients intravenously (IV) every two weeks and it is mostly used in people with type B of the disease.
People with type C of Niemann-Pick disease usually administer a medicine called Miglustat. This medicine is used in different countries worldwide but it is not approved by FDA (Food and Drug Administration). In other words, it cannot be used in the U.S. Commonly, it is taken 1-3 tablets daily to slow down nerve symptoms such as problems with walking, swallowing, and hearing.
Previous medicines can give you some adverse reactions. Thus, discuss with your healthcare professional about benefits and risks before using any of them.
Supportive Therapies
The following therapies are often used along with treatment to improve the symptoms. For example:
- Speech, Physical, and Occupational Therapy – These procedures can help to decrease problems with talking, swallowing, and walking.
- Nutrition Therapy – It is advised to follow a special diet if you experience swallowing problems.
- Oxygen Therapy – This therapy is recommended by doctors when you experience lung problems.
Frequently Asked Questions
How common is Niemann-Pick disease?
This is a rare condition that occurs in 1 out of 250,000 people. A child can develop this condition only if both parents carry this mutated gene.
What are the most common symptoms of the Niemann-Pick disease?
- Nerve pain
- Walking problems
- Vision changes (such as eye movement that can’t be controlled)
- Lung disorders
- Enlargement of the liver and spleen
If you notice that your child experiences any of the previous symptoms, immediately contact a doctor.
What are the potential complications of the Niemann-Pick disease?
These include:
- Seizures
- Ataxia
- Tremors
- Lung disease
- Recurrent respiratory infections
- Jaundice
- Peripheral nerve issues
- Muscle weakness
- Slurred speech
- Liver failure
- Mental health problems
- Swollen lymph nodes
Do not hesitate to see a doctor if any of the previous complications happen. Ask your healthcare provider if you have additional questions.
