Description

Niemann-Pick disease is a group of rare diseases transmitted in families. The conditions that affect the body's ability to break down and use fats as well as cholesterol and lipids in the interior of the cells. Due to the accumulation of fat cells, these cells do not function as they should and, with time, the cells die. Niemann-Pick disease can affect the brain, nerves, liver, spleen, and bone marrow. Sometimes it can affect the lungs.

The symptoms of Niemann-Pick disease is associated with worsening of the function of the nerves, brain, and other organs over time.

The Niemann-Pick disease, a disease that can happen at different ages, but mainly affects children. The condition has no known cure, and sometimes fatal. The treatment focuses on helping people live with their symptoms.

Symptoms

The three main types of Niemann-Pick disease are called a, B and C. the Symptoms differ widely, but depend in part on the type and severity of the condition. Symptoms may include:

  • The loss of muscle control, such as clumsiness and problems with walking.
  • Muscle weakness and floppiness.
  • Stiff and awkward movements.
  • Vision problems, such as loss of vision and eye movements that cannot be controlled.
  • The hearing loss.
  • Be sensitive to the touch.
  • Sleep problems.
  • Problems with swallowing and eating.
  • Difficulty in speech.
  • Problems with memory and learning worsen.
  • Mental health conditions, such as depression, paranoia, and behavior problems.
  • The liver and spleen that get too big.
  • Repeated infections that cause pneumonia.

Some babies with the type to show symptoms within the first few months of life. People with type B may not show symptoms for years, and have a better chance of living to adulthood. People with type C may start to have symptoms at any age, but may not have symptoms until adulthood.

When to see a doctor

If you have any concerns about your child's growth and development, talk to your health professional. If your child is already able to do some activities that you can do before, consult your health care professional immediately.

Causes

Niemann-Pick disease is caused by changes in specific genes related to the way in which the body breaks down and uses the fats. These fats are cholesterol and lipids. The changes in the genes are transmitted from parents to children in a pattern called autosomal recessive inheritance. This means that both the mother and the father must pass on a mutation to the child to have the condition.

Categories of Niemann-Pick disease

There are three types of Niemann-Pick disease type: a, B, and C.

Types a and B

Niemann-Pick disease type a and B are caused by changes in the SMPD1 gene. The condition is sometimes called acid sphingomyelinase deficiency (ASMD). With these changes in the genes, an enzyme called acid sphingomyelinase (sfing-go-MY-uh-lin-ase) is missing or does not work well. This enzyme is needed to break down and use lipids called sphingomyelin in the interior of the cells. A buildup of these fats cause damage to the cells, and over time, the cells die.

Type a ― the most serious form ― begins in childhood. The symptoms include a liver becomes too large, severe damage to the brain and the nerves of the loss that gets worse over time. There is No cure. The majority of children do not live beyond a few years of age.

Type B ― sometimes called juvenile-onset Niemann-Pick disease, the disease usually begins later in childhood. This does not imply a damage in the brain. Symptoms include nerve pain, difficulty walking, vision problems, and liver and spleen, which become too large. Lung problems may also occur. Most people with type B live into adulthood. But the liver, lung, and problems get worse with time. Some people have symptoms that overlap between types a and B.

Type C

Niemann-Pick disease type C is caused by changes in the NPC1 and NPC2 genes. With these changes, the body does not have the protein you need to move and use the cholesterol and other lipids in the cells. Cholesterol and other lipids accumulate in the cells of the liver, the spleen or the lungs. Over time, the nerves and the brain are also affected. This causes problems with eye movement, walking, swallowing, hearing, and thinking. The symptoms vary widely, and can appear at any age and gets worse over time.

Risk factors

The risk factors for the disease, Niemann-Pick disease depend on the type. The condition is caused by changes in genes that are transmitted in families. Although the disease can occur in any population, type a occurs more frequently in individuals of Jewish descent Ashkenazi. Type B occurs more frequently in people of North African descent. Type C occurs in many different populations, but it occurs more often in people of Acadian and Bedouin descent.

If you have a child with Niemann-Pick disease, your risk of having another child with the condition that it will be greater.

Genetic testing and counseling can help you learn about your risks.

Diagnosis

The diagnosis of Niemann-Pick disease begins with a physical exam. The exam may show an early sign of warning, such as the liver or the spleen that is too large. Your healthcare provider will talk to you about your symptoms and medical history of your family. Niemann-Pick disease is rare, and its symptoms can be similar to those of other health conditions, so testing is required to obtain the correct diagnosis.

Diagnostic tests depend on the type of Niemann-Pick disease.

  • Type a or type B. the use of blood or a small sample of the skin, experts measure how much sphingomyelinase in white blood cells. Sphingomyelinase is an enzyme that breaks down and uses fat.
  • Type C. the Experts use a blood sample to measure the levels of a specific type of cholesterol called oxysterol. In rare cases, a small sample of the skin can also be used to indicate how cells move and store cholesterol.

Other tests may also be done, such as:

  • The genetic testing. The DNA testing of a blood sample can show the specific changes in the genes that cause Niemann-Pick disease type a, B and C. the People who have only one copy of the gene of change, but do not have the condition, they are called carriers. DNA testing can show carriers for all types of Niemann-Pick disease if the changes in the gene have been identified in the first person in the family who have the disease. The change in the gene can be passed on to children.
  • Magnetic resonance imaging (MRI). A magnetic resonance imaging of the brain may show loss of brain cells. But in the early stages of the Niemann-Pick disease, an mri may not show any change because the symptoms usually appear before the loss of brain cells. Magnetic resonance imaging can also be used to search in the liver and spleen to see if they are of large size, and to measure its size.
  • Examination of the eyes. An eye exam may show changes that could be caused by the Niemann-Pick disease, such as problems with eye movements in the type C and the changes within the eyes in types a and B.
  • Prenatal testing. Ultrasound during pregnancy can show the liver and spleen caused by the disease Niemann-Pick type C. the liver and spleen can also be great in the a-type, but rarely in type B. in Taking a sample of the amniotic fluid that surrounds the baby in the uterus or a tissue sample from the placenta may be done to diagnose the Niemann-Pick disease.

Genetic testing and counseling for families with a child with Niemann-Pick disease, a disease which can provide information about the risks and options for family planning.

Treatment

There is No cure for Niemann-Pick disease, but supportive care can help control the symptoms.

Medications

For the Niemann-Pick disease type B, olipudase alfa-rpcp (Xenpozyme) is an enzyme replacement due to lack or low levels of the enzyme sphingomyelinase. This enzyme replacement can help with the problems of the lungs and the breathing and decrease the size of the liver and the spleen. The medicine may also help the growth of the height in children. Doesn't help with nerve-related symptoms.

Olipudase alfa-rpcp is given through a vein every two weeks.

For people with Niemann-Pick disease type C, mild to moderate symptoms of nerves, a drug which is called miglustat may be an option. Miglustat is approved by the neurological symptoms of Niemann-Pick disease type C in many countries, but it is not approved by the Food and Drug Administration for use in the united States.

Miglustat is a pill that is taken 1 to 3 times a day. Miglustat may slow the worsening of symptoms of nerves, such as problems with hearing, swallowing, and walking. It can also help to slow down the changes in the mental health and learning and memory.

Discuss medications, including possible side effects with your doctor or other health care professional.

Supportive therapies

Therapies for all types of Niemann-Pick disease depends on the symptoms and may include:

  • Speech, physical and occupational therapy. Physical therapy and occupational therapy can help to maintain the ability to move as long as possible. Speech therapy can help with speech and swallowing.
  • Nutrition therapy. This includes special foods that can be added to the diet, when swallowing becomes difficult.
  • Oxygen therapy. This can help if the lungs are affected, and problems with breathing happen.
  • The treatment of the symptoms. Treatments can help with infections, seizures, muscle movements that cannot be controlled and sleep problems.

People with Niemann-Pick disease need to see their health care professionals regularly, because the disease and its symptoms tend to worsen with time. The research of new treatments underway.

Coping and support

If you or your child is diagnosed with Niemann-Pick disease, his family face challenges and uncertainties. One of the most difficult things about this condition is that it is not possible to predict how the health and development is going to change over time.

You or your child is likely to require more care as the condition changes. Ask your health care team about the support resources. Also talk with your health care team about when it is time to plan for the end-of life care.

You may find it helpful to connect with other people who are living with Niemann-Pick disease. Depending on your needs, ask for information on organizations that support parents who have children with physical conditions that limit their ability or who have lost their children to such conditions.

Be part of the clinical trials may help in the search for effective treatments.

Preparing for your appointment

The signs of the disease, Niemann-Pick disease can be noticed before the birth. Or you can share your concerns with a health care professional. After a test, you may be referred to one or more specialists for testing and treatment.

You can ask a trusted family member or friend to join you for the appointment. Having someone who can offer emotional support and can help you remember all the information.

Here's some information to help you prepare for your first appointment.

What you can do

Before your appointment, make a list of:

  • Symptoms and how long you have realized them.
  • Your family's key medical information, including other health conditions.
  • All the drugs, vitamins, herbs and other supplements that you use, and dose.
  • Information about your family history, including whether anyone in your family has the Niemann-Pick disease.
  • The questions you want to ask your health care professional.

Questions may include:

  • What is likely the cause of these symptoms?
  • There are other possible causes of these symptoms?
  • What kind of tests are needed to make a diagnosis?
  • You should see a specialist?

Questions to ask if you are referred to a specialist include:

  • Is this Niemann-Pick disease?
  • What are the treatment options for this condition?
  • What treatment do you suggest?
  • What are the possible complications of this condition?
  • Have regular medical appointments necessary? What's the frequency?
  • Are my other children or family members at increased risk for this condition?
  • Should family members be tested for changes in genes that can cause this condition?
  • What other specialists, which suggests you seeing?
  • There are clinical trials that could be useful for this condition?
  • What suggestions have you to make against this condition?
  • How do I find other families who are living with Niemann-Pick disease?
  • Are there brochures or other printed material I can have? What sites do you recommend?

Do not hesitate to ask questions during your appointment.

What to expect from your doctor

Questions of your health care professional may include:

  • What are your or your child's symptoms?
  • When did you first notice these symptoms?
  • The symptoms changed over time?
  • Does your child's development seems to be delayed in comparison with that of other children of the same age?
  • There are things that the child used to be able to do, but you can't do?
  • Has any blood relative — such as a father or a brother was diagnosed with Niemann-Pick disease type, disease, or have had symptoms without being diagnosed?

Be prepared to answer questions, so that you have time to discuss what is most important to you.

Symptoms and treatment of Niemann-Pick disease