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Children with MPN - Most common questions

Updated: Mar 11

First of all, it is important to know that MPNs are very rare in children. Most cases are diagnosed in adults over 60 years old. The exact cause of MPNs is not known, but they are linked to a mutation in a gene called JAK2. This mutation makes the bone marrow produce too many blood cells, which can lead to problems such as blood clots, bleeding, enlarged spleen, and fatigue.


children with mpn - most common questions


Content guide


 

Children with MPN can have a normal life


Children with MPNs can grow and develop normally, should be able to do their normal activities.


How do kids find out they have an MPN?


MPNs are rare blood disorders that affect the production of blood cells in the bone marrow. MPNs can cause problems such as too many or too few blood cells, enlarged spleen, bleeding, clotting, itching, or fatigue. MPNs are more common in adults, but they can also affect children.


There are usually two ways that kids find out they have an MPN:

  • Routine blood test: Sometimes, a routine blood test for another reason may show abnormal blood counts or other signs of an MPN. This may lead to further testing to confirm the diagnosis.

  • When they get sick and the pediatrician asks for some tests: Sometimes, kids may have symptoms that suggest an MPN, such as headaches, dizziness, shortness of breath, abdominal pain, or weight loss. The pediatrician may order some tests to find out the cause of these symptoms.



What ages can it happen?


MPNs can happen at any age. We see more cases in teenagers, but it doesn't mean that it doesn't happen in younger kids. The exact cause of MPNs is not known, but some genetic mutations may play a role.


What are some of the tests children get to diagnose an MPN?

To diagnose an MPN, children may need to have several tests, such as:

  • Blood counts: This test measures the number and type of blood cells in a sample of blood. It can show if there are too many or too few red blood cells, white blood cells, or platelets.

  • Liver function: This test measures the levels of enzymes and other substances produced by the liver. It can show if the liver is working properly or if it is affected by an MPN.

  • Kidney function: This test measures the levels of waste products and electrolytes in the blood. It can show if the kidneys are working properly or if they are affected by an MPN.

  • Erythropoietin level: This test measures the level of a hormone called erythropoietin (EPO) that stimulates the production of red blood cells. It can show if the body is making too much or too little EPO.

  • Inflammatory markers: This test measures the levels of proteins that indicate inflammation in the body. It can show if there is any infection or inflammation that may be related to an MPN.

  • Specific testing related to high red cell or platelet counts: This test may include measuring the oxygen level in the blood, checking for iron deficiency or excess, or looking for abnormal blood clots or bleeding.

  • Other tests based on case: Depending on the type and severity of the MPN, other tests may be needed to check for complications or other conditions.

Will my child need a bone marrow test?


Yes. A bone marrow test is usually needed to confirm the diagnosis of an MPN and to determine the type and subtype of the MPN. A bone marrow test involves taking a small sample of bone marrow (the soft tissue inside the bones where blood cells are made) from the hip or chest bone using a needle. The sample is then examined under a microscope and tested for genetic mutations and chromosomal abnormalities.


What about genetic testing?


Genetic testing is part of the bone marrow test. It can help identify specific mutations or changes in the genes that may cause or contribute to an MPN. Some of the common mutations that are tested for are:

  • JAK2: This gene makes a protein that helps control the growth and division of blood cells. About 50% to 60% of children with MPNs have a mutation in this gene that makes it overactive.

  • MPL: This gene makes a protein that helps regulate platelet production. About 5% to 10% of children with MPNs have a mutation in this gene that makes it overactive.

  • CALR: This gene makes a protein that helps with calcium balance and cell stress response. About 10% to 15% of children with MPNs have a mutation in this gene that affects its function.

  • Secondary gene panels: These are tests that look for other less common mutations that may be associated with MPNs, such as TET2, ASXL1, EZH2, IDH1/2, etc.

  • Cytogenetic testing: This is a test that looks for changes in the number or structure of chromosomes (the structures that carry genes) in the bone marrow cells. Some children with MPNs may have abnormal chromosomes that affect their prognosis and treatment.

Treatments


If your child has been diagnosed with MPN positive, you may have many questions and concerns about what it means for their health and well-being.


The treatment of MPNs in children depends on the type and severity of the disease, as well as the symptoms and complications that your child may have. Some children with MPNs may not need any treatment at all if they have no symptoms or problems related to their condition. They will still need regular check-ups and blood tests to monitor their blood counts and watch for any changes.


If your child does need treatment, there are different options available. The most common ones are:


  • Aspirin: This is a medication that can help prevent blood clots and reduce inflammation. It is usually given to children with ET or PV who have a high risk of thrombosis (clotting). Aspirin is taken orally and has minimal side effects.

  • Hydroxyurea: This is a medication that can be used to treat sickle cell disease in children. It works by increasing the production of fetal hemoglobin, which reduces the sickling of red blood cells and prevents complications such as pain crises, infections, and organ damage. Hydroxyurea has been used for decades in pediatrics and has a proven safety and efficacy record. It can reduce the frequency and severity of pain episodes, hospitalizations, blood transfusions and acute chest syndrome. It can also improve the quality of life and growth of children with sickle cell disease. This is an oral medication that can be taken once a day at home. It does not require injections or infusions, which can be inconvenient and painful for children. It is also relatively affordable and widely available. Hydroxyurea has minimal side effects compared to other treatments for sickle cell disease. The most common side effects are mild gastrointestinal symptoms such as nausea, diarrhea, and stomachache. These can usually be managed by taking the medication with food or adjusting the dose. Hair loss is rare and reversible. But Hydroxyurea may have some effects on fertility in both males and females. Although there is no conclusive evidence that hydroxyurea causes infertility or birth defects. Hydroxyurea may also have a theoretical risk of causing leukemia or other cancers in some patients. This is because hydroxyurea affects the DNA of cells and may induce mutations or chromosomal abnormalities. However, the existing data on this risk is mixed and inconclusive. There is no clear evidence that hydroxyurea increases the risk of leukemia or other cancers in children with sickle cell disease. In short Hydroxyurea is a valuable option for treating sickle cell disease in children. It has many benefits and few drawbacks. However, it is not a cure for sickle cell disease, and it may not work for everyone. Therefore, it is important to discuss with your doctor whether hydroxyurea is suitable for your child and to monitor your child's response and side effects regularly.

  • Interferon: Interferon is a type of medication that can be used to treat some types of myeloproliferative neoplasms (MPNs). Interferon works by stimulating the immune system to fight the disease and reduce the number of abnormal cells. Interferon has been used for many years to treat MPNs, and it has proven to be effective in some cases. It can induce remission, which means that the disease becomes inactive or disappears for a period. It can also lower the mutant allele burden, which is the percentage of abnormal cells that have a genetic mutation that causes MPNs. Interferon may be a better option for children with MPNs than some of the newer agents that are being developed, such as JAK inhibitors. These agents are not yet tested or approved for use in children, and they may have unknown long-term effects or risks. Interferon has more established safety and efficacy data for pediatric patients. On the other hand, Interferon can cause side effects, such as flu-like symptoms, fatigue, headache, muscle pain, and nausea. These side effects can be severe and interfere with daily activities and quality of life. Some people may need to reduce the dose or stop the treatment because of these side effects. Interferon is given by injection, which can be inconvenient and uncomfortable. It may require frequent visits to the clinic or hospital, or self-administration at home with proper training and equipment. Interferon may trigger or worsen some other conditions, such as psychological illness or autoimmune disease. These conditions are caused by an overactive or misdirected immune system, which interferon can stimulate. Some people may experience depression, anxiety or mood swings while taking interferon. Others may develop autoimmune disorders, such as thyroid problems, diabetes, or lupus. In conclusion, Interferon is a potential treatment option for MPNs that has both benefits and drawbacks. It is important to weigh the pros and cons carefully and discuss them with your doctor before starting or changing your treatment plan. There are also other options available for MPNs, such as hydroxyurea, which is a pill that can lower the blood cell counts and reduce the risk of complications. There are children being successfully treated with both hydroxyurea and interferon. The most important thing is to make sure your physician discusses your options, and you are comfortable with the decisions made for your child.

  • Ruxolitinib (Jakafi) is a targeted therapy that inhibits a type of enzyme called JAK (Janus kinase), which is involved in the growth and survival of blood cells. It is approved by the FDA for the treatment of certain types of myeloproliferative neoplasms (MPNs). These include myelofibrosis (MF) and polycythemia vera (PV). Here, we will focus on the use of Ruxolitinib for MF, it can help reduce the size of the spleen and improve some of the symptoms associated with MF. However, Ruxolitinib is not approved for use in children under 18 years old. This is because there is not enough data on its safety and effectiveness in this population. There are some clinical trials being done to evaluate Ruxolitinib in pediatric patients with MF or other MPNs, but they are still in early stages and have not reported any results yet. Therefore, if you have a child with MF or another MPN, you should discuss with your doctor whether Ruxolitinib is an option for them. It is likely that your doctor will decide on a case-by-case basis, depending on your child's age, condition, and other factors. You should also be aware of the potential side effects and risks of Ruxolitinib, such as low blood counts, infections, skin cancers, increased cholesterol levels, and cardiovascular events. Ruxolitinib is not for everyone with MF or other MPNs. It is important to talk to your doctor about the benefits and risks of this drug.


Non-medical treatments


Another non-medical treatment that may be used for some children with MPNs is phlebotomy. This is a procedure that involves removing some blood from a vein to lower the number of red blood cells and prevent polycythemia (too much hemoglobin). Phlebotomy may be done periodically for children with PV who have high hemoglobin levels and do not respond well to other treatments. In addition to medical treatments, some complementary therapies may help your child cope with their condition and improve their quality of life. These include:


  • Diet: Eating a balanced diet can help your child maintain a healthy weight, avoid dehydration, and prevent iron deficiency. Some foods that are rich in iron include red meat, poultry, fish, beans, lentils, spinach, and fortified cereals. Your child may also benefit from taking vitamin supplements if prescribed by their doctor.

  • Exercise: Physical activity can help your child stay fit, reduce stress, and improve blood circulation. However, your child should avoid strenuous exercise or activities that may increase the risk of bleeding or infection. Consult your child's doctor before starting any new exercise program.

  • Relaxation: Stress can worsen the symptoms of MPNs and affect your child's mental and emotional well-being. Relaxation techniques such as deep breathing, meditation, yoga, or music therapy can help your child calm their mind and body and cope with their feelings.

  • Support: Having a supportive network of family, friends, teachers, and health care providers can make a big difference for your child's outlook and adjustment. You can also seek out support groups or online communities for children with MPNs or similar conditions where your child can share their experiences and learn from others.


Pediatric MPN: a growing field of research and practice


Myeloproliferative neoplasms (MPN) are a group of rare blood disorders that cause an overproduction of blood cells. MPN can affect people of any age, but they are more common in adults than in children. However, there is a growing interest and awareness of pediatric MPN among researchers and clinicians who are trying to learn more about these diseases so they can better diagnose them, counsel families and treat kids.


One of the challenges of pediatric MPN is that they are often difficult to distinguish from other causes of high blood cell counts, such as infections, inflammation or iron deficiency. Children may also have different symptoms and complications than adults with MPN, such as growth problems, bleeding or clotting issues, or bone pain. Therefore, children likely require different criteria and tests to diagnose MPN subtypes such as polycythemia vera (PV) or essential thrombocythemia (ET).


Another challenge is that the genetic basis of pediatric MPN is not well understood. While most adults with MPN have mutations in genes such as JAK2, CALR or MPL, these mutations are less common in children. This suggests that there may be other genetic factors involved in the development of pediatric MPN, or that environmental triggers may play a role. Moreover, the impact of these mutations on the disease course and prognosis of children with MPN is not clear.


To address these challenges, researchers and clinicians are working together to bridge the gap between knowledge and practice in pediatric MPN. They are conducting studies to better understand the epidemiology, pathophysiology, clinical features, and outcomes of pediatric MPN. They are also developing guidelines and recommendations for the diagnosis and management of pediatric MPN, based on the best available evidence and expert consensus. Furthermore, they are exploring new treatment options for children with MPN, such as targeted therapies or stem cell transplantation.


Pediatric MPN is a field that is evolving rapidly and has a lot of potential for improving the lives of children with these rare diseases. By collaborating and sharing their experiences and insights, researchers and clinicians can advance the science and practice of pediatric MPN and provide better care for their patients.






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