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Rosai-Dorfman Disease

Rosai-Dorfman disease (RDD) previously known as sinus histiocytosis with massive lymphadenopathy (SHML), is a rare histiocytic disorder which involves the over-production of a type of white blood cell called non Langerhans sinus histiocyte.

RDD is characterized by accumulation of abnormal cells (histiocytes) in various tissues/organs of the body. RDD tends to affect skin and lymph nodes most commonly, although any organ system can be involved from head to toe. The reason that these cells over-produce is not known, although many possibilities have been considered, including viral, bacterial, infection, environmental, and genetic causes.

In 1969, two pathologists, Juan Rosai and Ronald Dorfman, reported a distinct histiocytic disorder in several children with massive enlargement of the lymph nodes, as well as other symptoms. They named this condition sinus histiocytosis with massive lymphadenopathy, and the name has since come to be known as RDD. In the last decade, cancer-causing genetic changes (mutations) in the MAP kinase pathway have been identified in 50% of cases with RDD. Therefore, RDD was recognized as a blood cancer by the World Health Organization in 2022. However, RDD is usually not life-threatening, and many patients do not require treatment.

The exact incidence of RDD cases is not known, although it does occur worldwide and seems to affect equal numbers of males and females. It can affect children as well as adults. Because this disease is so rare, no large studies have been performed, and there is no approved, widely accepted treatment.

The Histiocytosis Association continues to work closely with an international group of physicians, known as the Histiocyte Society, who are dedicated to studying histiocytic disorders. Through their combined efforts, awareness about the disease has increased, more research has been undertaken, and progress has been made in the understanding of this disease.

The information on this page has been written and reviewed by the Histiocytosis Association Board of Trustees Scientific Committee and a member of the Histiocyte Society, and subsequently audited by patients and families to ensure enough information was captured. The most recent update to this page was in January of 2025.

Latest Webinar

The following are two recent talks. The first, by Gaurav Goyal, M.D. with the University of Alabama, Birmingham hosted through an international conference hosted by the Mumbai Hematology Group. Over 650 participants from 25+ countries were present on for the talk. The Histiocytosis Association hopes to host a similar webinar for the histio community soon. We would also like to share a recent publication (2023) by Aishwarya Ravindran, M.D. of the University of Alabama, Birmingham. The manuscript integrates recent updates in RDD diagnosis (primarily histopathology focus) and contains an approach to subclassification comparing RDD to ECD, LCH, ALK-positive histiocytosis (Figure 4). How I Diagnose Rosai-Dorfman Disease | American Journal of Clinical Pathology | Oxford Academic.

Symptoms

Rosai-Dorfman may affect skin or lymph nodes most commonly. It can involve a single-site or multiple sites of the body. Skin involvement is in the form of nodules or lumps under the skin that can occasionally be itchy and painful. Lymph node involvement can present as neck swelling, although RDD can involve any lymph nodes of the body (chest, groin, armpits).

By frequency, RDD can involve the skin (50%), lymph nodes (30-50%), bones (15%), respiratory system including nasal sinuses and airways (10-20%), skull and nervous system (10%), eye/eye socket (5%), salivary glands (5%), breasts (1-2%), and liver/spleen (1-2%). RDD can also occur in association with autoimmune conditions including lupus, rheumatoid arthritis, or other blood cancers including lymphoma or other histiocytic disorders such as Erdheim-Chester disease or Langerhans cell histiocytosis.

Symptoms of RDD depend on the site of involvement and can include:

  • Skin nodules
  • Lymph node enlargement (with or without pain)
  • Fever

More rarely:

  • Weakness
  • Paleness/anemia
  • Weight loss
  • Shortness of breath
  • Blockage/discharge of the nose
  • Nosebleeds
  • Deformity of the nose (saddle-nose)
  • Inflammation of the tonsils/sinuses
  • Difficulty swallowing or speaking
  • High-pitched breathing
  • Eye bulging/decreased vision
  • Headaches
  • Seizures
  • Night sweats
  • Decreased sensation
  • Paralysis
  • Blood abnormalities (low red blood cells, white cell abnormalities, increased sedimentation/inflammatory cell rate, abnormal protein levels, etc.)
  • Joint pain
  • Slowly growing, painless mass

It is important to remember that symptoms alone do not make the diagnosis of RDD. Thus, it is important to consult a physician to receive a thorough workup and accurate diagnosis.

Diagnosis and Treatment

The National Comprehensive Cancer Network® (NCCN®) – an alliance of leading cancer centers – announced the publication of new NCCN Guidelines® for histiocytosis. These clinical practice guidelines provide the latest evidence and expert-consensus for diagnosing and treating the three most common forms of histiocytosis in adults: Langerhans cell histiocytosis (LCH), Erdheim-Chester Disease (ECD,) and Rosai Dorfman Disease (RDD). Although the guidelines are focused on adult patients, there may be insight for pediatric physicians as well. The Guidelines are listed as “histiocytic neoplasms” and can be found on NCCN’s website.

On November 1st, 2022, Memorial Sloan Kettering Cancer Center (MSK) announced that the U.S. Food and Drug Administration (FDA) has approved the oral MEK inhibitor drug cobimetinib (Cotellic®) for the treatment of adult patients with the family of blood diseases known as histiocytic neoplasms (HN). These diseases include Erdheim-Chester disease, Rosai-Dorfman disease, and Langerhans cell histiocytosis. Cobimetinib is an oral inhibitor of MEK1 and MEK2, currently approved to treat melanoma. Gratitude and congratulations to the Principal Investigator of this study, Dr. Eli Diamond, neuro-oncologist and neurologist at MSK and Chair of the Scientific Committee for the Histiocytosis Association. We applaud the efforts of Dr. Diamond and the entire study team for this tremendous advancement. Read more here.

The diagnosis of RDD is made following a biopsy of the affected tissue. This procedure can be performed of the lymph nodes, skin, bone, liver, lung, or bone marrow. A small piece of the tissue is obtained so that it can be viewed under a microscope by a pathologist. If the cells in the tissue have certain specific characteristics, the diagnosis of RDD can be made. RDD cells stain with specific dyes- S100, CD68, and OCT2.

Baseline Evaluation and Testing

Once the diagnosis of RDD is made, detailed history, physical exam, and tests are undertaken to determine the extent of the disease, i.e., determining what organs are involved with the disease:

  • History: A detailed health history is undertaken including the onset and duration of symptoms, past illnesses, health and lifestyle habits, and medical conditions experienced by the family.
  • Physical examination: Includes a detailed exam of the body to search for signs of RDD, with special attention to skin, nose, mouth, and lymph node regions.
  • Blood tests:
    • Complete blood count with differential: To check for hemoglobin, platelets, and different types of white blood cells
    • Chemistries, including kidney and liver function tests: To evaluate the function of kidney and liver
    • C-reactive protein (CRP) – a marker of inflammation which can be elevated in RDD
    • Immunoglobulin (antibody) levels
  • Tests on the biopsy specimen:
    • Immunohistochemistry: This test uses various types of dyes to find markers that can help in the diagnosis of RDD and differentiate it from other diseases.
    • Molecular testing for MAP kinase pathway mutations: This test involves testing the tissue for changes in the genes that can be driving the RDD (KRAS, NRAS, etc.). Some of these tests require sending the biopsy sample to a specialized laboratory that can take several days to weeks to result. Knowledge of these mutations can help with the diagnosis and treatment of RDD
  • PET (positron emission tomography) scan: To check for tumor cells in the body, a small amount of radioactive sugar is injected into a vein followed by taking pictures in a PET-scanning machine. The disease-causing cells look brighter than surrounding cells due to increased uptake of glucose
  • CT (computed tomography) scan: This is an x-ray that takes a number of detailed pictures of various organs and structures within the body, often conducted in combination with a PET scan. Dye may be injected into a vein or taken by mouth to make the images more clear
  • MRI (magnetic resonance imaging): A special type of scan that used magnetic waves to obtain detailed pictures of various body parts. A substance called gadolinium may be injected into a vein to get clearer pictures
  • Ultrasound: This is a procedure where sound waves are used to create echoes and collect pictures of organs
  • Electrocardiogram: This is a tracing of the heart rate and rhythm
  • Echocardiogram: Uses sounds waves to provide pictures of the heart in order to evaluate blood flow and heart function
  • Bone marrow aspiration and biopsy: This procedure involves suctioning of a small amount of bone marrow and taking a small piece of the bone by inserting a hollow needle in the hip bone

Staging

In many diseases or cancers, there is the concept of “staging” which refers to the extent or severity of the disease within the body (for example, “stage 4 lung cancer”). There is no standard staging system for RDD. The severity of the disease is determined by how widespread the involvement occurs outside of bone and whether internal organs are affected.

General Principles of Treatment

Not all patients with RDD will require treatment at diagnosis. A small proportion of patients may have waxing and waning disease that does not interfere with life expectancy or symptoms. In these cases, close monitoring (wait and watch) strategy can be utilized, with institution of treatment at the onset of symptoms or involvement of one of the internal organs (liver, kidney, heart, lungs, brain). RDD involving a single-site or organ can be treated by surgery or local treatments (injections, creams, ointments). Patients with RDD involving more than one site or organ should have their treatment planned by a team of health care providers who are experts in the disease, including and not limited to the following:

  • Cancer specialist (hematologist/oncologist)
  • Autoimmune disease specialist (rheumatologist)
  • Brain and nervous system specialist (neurologist)
  • Skin specialist (dermatologist)
  • Ophthalmologist (Eye Specialist)
  • Psychologist and supportive care specialist

Treatments Available for RDD

For single-site disease involving the skin, injectable steroids (triamcinolone) or surgery can be utilized. For single-site lymph node disease causing symptoms, surgical removal may be sufficient. For multiple skin or other disease sites, alternate treatments using oral pills or through the veins can be used as listed below. The treatment approach for multi-system RDD has evolved significantly due to discovery of mutations in the MAPK pathway genes, leading to the successful use of targeted therapies. Treatments for RDD can be divided into two categories- targeted and conventional treatments. Patients may also consider enrolling in a clinical trial if available near them.

 

  • MEK-inhibitors (cobimetinib, trametinib, binimetinib):
    • These drugs are typically used when there are MAP kinase pathway mutations (KRAS, MAP2K1, etc.) in the tumor cells. However, in some instances, testing for a mutation may not be possible in which case these agents can also be used empirically. These drugs are taken by mouth and the dose can vary based on side effects and response to treatment. Common side effects include skin rash, and patients may need to see a skin doctor for management. These drugs can also reduce the heart function, and sometimes an echocardiogram may be needed to monitor the effects on heart. Another notable side effect is changes in the layer of the tissue in the back of eye that senses light (retina) leading to blurry vision or loss of vision. It may be necessary to get regular eye exams while on treatment with these drugs.
  • Immunosuppressants and modulators (corticosteroids, 6-mercaptopurine, azathioprine, lenalidomide, thalidomide):
    • These drugs are given through mouth and work by suppressing the immune system. Most commonly used corticosteroid is prednisone, and usually administered over 2-3 months with gradual tapering. Common side effects with prednisone include weight gain, worsening diabetes, mood disturbances, risk of infections, stomach upset/ulcers, and delayed wound healing. Corticosteroids can also be given as a cream/ointment or local skin injections (e.g., triamcinolone). Other immunosuppressants like 6-mercaptopurine and azathioprine can lead to abnormalities of bone marrow and liver function, nausea, inflammation of pancreas (pancreatitis), or infections. Immunomodulators like thalidomide and lenalidomide can cause nausea, fatigue, diarrhea, suppression of bone marrow function, and blood clots. Due to the risk of blood clots, aspirin is usually given alongside these drugs.
  • Chemotherapy (cladribine, cytarabine, vinblastine, hydroxyurea, methotrexate)
    • These drugs are given through the vein or mouth (hydroxyurea, methotrexate). Chemotherapy works by slowing the growth of or killing rapidly dividing tumor cells. These drugs have the potential to weaken the immune system and can lead to infectious complications. Vinblastine can cause damage to the nerves leading to neuropathy, manifesting as numbness, tingling, or pain of fingers and toes. Cladribine can increase the risk of a particular type of pneumonia (pneumocystis pneumonia) so preventative antibiotics may need to be administered alongside.
  • Other inhibitors: mTOR inhibitors (sirolimus), imatinib
    • These are less commonly used targeted therapies but can occasionally result in disease remission. These drugs are taken by mouth and the dose can vary based on side effects and response to treatment. Side effects with mTOR inhibitors include abnormal cholesterol levels, lung inflammation (pneumonitis), and worsening of diabetes mellitus. Side effects with imatinib include rash, fatigue, and diarrhea.
  • Other treatments (surgery, radiation, siltuximab, rituximab)
    • Surgery may be used to remove RDD lesions or to reduce the pressure from a large lesion behind the eye. Occasionally, radiation therapy using high energy x-rays or protons may be used to kill tumor cells. The side effects of radiation can depend on the site of radiation and the amount of normal tissue exposed to the radiation. Siltuximab is given through the vein and works by reducing the inflammation generated by RDD cells. Common side effects of siltuximab include itching, weight gain, rash, allergic reaction (chest pain, nausea, racing heart), or upper respiratory infections. Rituximab can be given as an injection through the vein or under the skin. The side effects of rituximab include allergic reactions (scratchy throat, chest pain, heart racing, breathing difficulties, rash) and increased risk of infections.

There are several BRAF inhibitors (vemurafenib, dabrafenib, and encorafenib) and MEK inhibitors (cobimetinib, trametinib, binimetinib, selumetinib). The BRAF inhibitors are given for histiocytosis with the BRAFV600E mutation, and the MEK inhibitors are given in many different instances, including (1) cases of mutations in the MAPK pathway other than BRAFV600E (2) cases where no mutation has been identified and (3) for BRAFV600E mutations as well. In some instances of histiocytosis with BRAFV600E mutation, combined BRAF and MEK inhibitors are given. Which specific inhibitor medication (i.e. cobimetinib versus trametinib) a physician may administer can depend on several factors, such as (1) the amount of evidence that exists for a particular medication for a specific disease or age group (2) the experience of the physician administering a particular medication and (3) possible drug interactions between the inhibitor and an individual’s other medications.

Monitoring on Treatment

Once treatment is initiated, patients will likely need monitoring for assessing the response to therapy and also management of side effects of treatments. Some of the tests that may be undertaken include:

  • Physical exam, including neurological exam
  • Skin exams in patients on MEK-inhibitor treatment.
  • PET scan to check for reduced brightness and size of the tumor sites.
  • Additional imaging studies (CT, MRI) may be undertaken based on organs involved at diagnosis. Imaging (PET, CT, MRI) is usually repeated every few months and can be variable for each patient.
  • Blood tests to assess for changes from the disease or the treatments.

Treatment of Relapsed RDD

If the tumor grows back after treatment, it is called as relapsed disease. In such cases, one of the other targeted or conventional treatments than used previously may be utilized. In some cases, a repeat biopsy of tumor cells may be needed for confirmation of diagnosis and mutation testing. If a clinical trial is available, that may be a consideration as well.

Supportive care

Despite improvement in treatments, patients with RDD may struggle with many symptoms such as extreme tiredness, body pain, depressed mood, anxiety, and memory difficulty. In many cases, getting additional input from psychology, supportive/palliative care, psychiatry, and pain specialists may be helpful. Leading a healthy lifestyle (exercise, balanced diet) may help improve some of these symptoms in addition to medications.

Prognosis

RDD does not usually threaten life or organ function, and the risk of mortality from the disease is extremely low. Among patients who need treatment due to involvement of critical organs or symptoms, the prognosis has continued to improve with introduction of targeted drugs. It is important for patients to continue to follow up with their healthcare provider to ensure no complications such as second cancers or side effects of treatment develop. If there is development of any new symptoms, it is critical to notify the healthcare team to catch these problems in a timely manner.

FAQ

Rosai-Dorfman involves over-production of a type of white blood cell called a non-Langerhans sinus histiocyte. The cause of this over-production is not yet known.

While many patients go into remission and live normal lives with or without treatment, we usually don’t use the term “cure.” There is no established period of inactive disease before RDD is considered cured.

Many Rosai-Dorfman patients do not require treatment. Some patients with severe or persistent disease may need treatment with surgery, steroids, and/or chemotherapy. Rarely, radiation therapy is used.

A biopsy of the affected tissue, rather than a blood test, is required for diagnosis and would therefore not be appropriate as a routine test unless this disease is suspected.

Some pain and cramping can be a side effect of treatment, such as vinblastine and steroids. Pain may also be directly related to active disease. In cases of more chronic pain, some researchers suspect that cytokines, which are a type of messenger, stimulate white blood cells to release inflammatory molecules that produce pain.

Side effects include:

  • Low blood counts (with higher risk of infection)
  • Mild nausea/vomiting/constipation
  • Easily sunburned
  • Skin irritation at site of injection
  • Thin or brittle hair
  • Fatigue
  • Bone pain
  • Hoarseness
  • Seizures
  • Shortness of breath
  • Nerve damage (especially in adults) with tingling, numbness and/or pain of the hands and feet

Side effects include:

  • Increase in blood sugar
  • Increase in appetite
  • Heartburn
  • Bloating/fluid retention/weight gain
  • Difficulty sleeping
  • Mood/behavior/personality changes
  • Higher risk of infection
  • Slow wound healing
  • Muscle weakness
  • Loss of bone calcium
  • Increased hair growth

More unusual side effects may include:

  • Problems with vision/eye pain
  • Seizures
  • Confusion
  • Muscle twitching

Side effects include:

  • Mouth sores/swollen, tender gums
  • Nausea/vomiting/diarrhea/decreased appetite
  • Low blood counts
  • Dizziness/drowsiness
  • Headache

More unusual side effects may include:

  • Blurred vision or loss of vision
  • Seizures
  • Confusion
  • Weakness/difficulty moving one or both sides of the body
  • Loss of consciousness
  • Lung damage
  • Allergic reactions

More common signs/symptoms include:

  • Low blood counts (red cells, white cells, and clotting cells)
  • Nausea/vomiting/decreased appetite
  • Headache
  • Weakness/fatigue/achiness
  • Rash/darkening of the skin

What Do I Do Now?

A new diagnosis of a histiocytic disorder can bring feelings of being overwhelmed, bewildered, scared, angry, sad, disappointed, helpless, and sometimes even feelings of guilt. It is a time filled with unknowns, change, and new people and situations. Most parents feel ill-equipped to understand what is happening to their child and how to navigate through the illness to recovery. There are, however, strategies and resources that can help you, your child, and other family members get through the uncertain times that lie ahead. One step at a time, you can gather information, create a support system, learn how to cope with stress, and become a strong advocate for your Histio Warrior as part of the medical team. The following tips and suggestions are provided to help guide you through this journey toward your Histio Warrior’s good health.

Histiocytosis can be considered a systemic illness; especially in cases where the disease is found in more than one system within the body. Some patients and caregivers may prefer to consult several specialists, depending on the different locations of symptoms. In this case, it is helpful to have one physician coordinate your care. An oncologist is usually the most appropriate choice.

Make sure that your doctor is someone you can trust and with whom you can communicate. Important qualities to look for in a doctor are:

  • feeling as though you are heard,
  • being given the opportunity to ask questions, and
  • feeling respected.

If you are unsure about your physician, it is reasonable to schedule another appointment to discuss your concerns. While it is ideal to find a physician experienced and knowledgeable about histiocytic disorders, it is not always possible to find one who is nearby. If this is the case, ask the physician if he/she is open to a consultation with a knowledgeable physician and is willing to learn more about the disease. The Histiocytosis Association maintains a listing of doctors in a Physician Finder who have are knowledgeable about histiocytosis. You may also call us at +1 856-589-6606 for help finding other physicians in your area or for more information.

Call your insurance company to find out whether your plan will cover visits to the physician you are considering. Oftentimes a Team Social Worker and/or the hospital financial counselor can help smooth out insurance problems. Ask for help from a trusted friend if you feel overwhelmed in dealing with insurance issues.

Talking with your child: If your child is old enough to understand, sharing information can help him/her build trust in both you and his/her/your medical caregivers. It can also help your child cooperate with treatment and become a part of his/her/your medical team.

  1. Use words and ideas that are appropriate for your child’s age.
  2. Share information at a level that is in keeping with his/her ability to understand.
  3. Use your child’s questions as a guide to what he/she wants to know.
  4. Encourage your child to talk about his/her fears and concerns.
  5. Remind your child how much you love him/her.

If you are uncertain about how to talk to your child, your healthcare team can be of assistance.

Talking with family and friends: In the days and weeks following diagnosis, extended family and friends will need to be notified and periodically updated. However, explaining your situation multiple times can be exhausting and time-consuming. The Association offers a private Facebook group to help connect you with others. Some patients and families find that journaling is therapeutic and can provide an easy way to track their history and progress.

Talking with your child’s siblings: When your child is diagnosed with a histiocytic disorder, everyone in the family is affected, including brothers and sisters. They may feel anxious, lonely, resentful about the attention their sibling is getting, guilty about being healthy, or even responsible for the illness.

  1. Give information that is appropriate for your child’s age.
  2. Explain that no one did anything to cause the illness, and reassure them that it is not contagious.
  3. Give them a chance to talk about how the illness is affecting them or you. Be willing to answer questions.
  4. Remember that it will be easy for them to feel overlooked and unimportant, so it will be important to show that you love them and are proud of them.

Talking with your child’s school: Contact your school principal/counselor regarding your child’s diagnosis or if your diagnosis may affect your child. You may want to take brochures and other basic information about your histiocytic disorder. If your child is the patient, provide a written description of the health needs, such as what medications may need to be given at school, dosages, and times, signed by your physician. (Some schools will provide the form to be filled out and signed by your child’s physician.) Ask for a plan to take care of your child’s needs at school. You may need to provide written permission for the school to communicate with your physician, in case of an emergency.

Appointments: A calendar is a useful tool for remembering appointments and planning for changes to your established schedule. Calendars that show a week at a time also provide room on each day to record additional brief notes and reminders.

Medical Information: While some basic medical notes can be kept in a calendar, some patients and parents may choose to enter medical information in a laptop or keep a separate notebook. Be sure to date all entries. This information will be especially helpful when a new or different caregiver is involved. Examples that you may want to keep track of include:

  1. Results of various tests.
  2. A listing of allergies.
  3. A listing of medications and dosages.
  4. Names and phone numbers of your medical care team.
  5. Health information, such as your hospital number, social security number, and insurance information.
  6. Records of what was discussed during a medical visit/phone conversation and by whom.
  7. Notation of changing symptoms.

Adults may find it helpful to collect and organize medical records, starting as soon as possible after diagnosis. Although the original reports must remain in the physician or hospital file, you are legally entitled to copies of your records. You must submit a signed request for each physician’s office and the hospital. By keeping all records in one place, you can easily share these with other health care providers that you may see in the future. Follow this link to read more about obtaining your medical records.

If you have health insurance, it’s important that you know what your plan covers. Read your policy carefully to understand the health and medical services covered. Find out the portion of medical expenses you’ll be responsible for paying. When you have questions or there are things you don’t understand, reach out to other experts available to you, such as the human resources personnel at your place of employment or financial counselors at your medical treatment center. If filing and tracking claims feels overwhelming, you may want to ask a trusted friend or relative to assist in managing your insurance issues.

When you call the insurance company, ask to work with one case manager. This may help simplify the process by having one person that knows your needs and can manage your claims. If possible, communicate with the same person on an ongoing basis. Remember to keep a journal of all encounters.

If you don’t have health insurance, if coverage is not adequate, or if you are not able to get insurance because of your pre-existing condition, you may qualify for your state’s high-risk insurance pool. You can obtain more information about whether your state participates at the National Association of State Comprehensive Health Insurance Plans website. If your state does not participate, you may qualify for the federal high-risk insurance pool. For more information, contact the U.S. Department of Health and Human Services.

Online: You can subscribe for our emails and you will receive important announcements regarding the latest information on the histiocytic disorders. The Association also maintains a Facebook page for families and patients with this disease.

Local support: The hospital where you or your child is being treated may have a support group for patients or parents of children with histiocytic disorders, rare diseases in general, or even cancer. Establishing face-to-face relationships with others going through similar experiences can be helpful.

The Association sponsors patient and family Regional meetings, which are held in various locations around the U.S. and hosted by Association staff and volunteers. They are a good opportunity to meet other families and patients, learn from expert physicians, receive and give emotional support, and share practical coping skills while also providing a time to relax, knowing you are with people who understand.

Fundraising events for histiocytic disorders are another way to make connections with families in your region. A listing of dates and fundraising events is provided on the Upcoming Events page.

Virtual opportunities to connect are also available.

Self-education about histiocytic disorders is an important part of advocating for your and your child. It will help you to make informed decisions about care and play a more active role in recovery.

The Association website provides education on a number of topics, including disease information, family resources, and past and ongoing research projects. The Histio Resource Directory provides an extensive listing of global, national, and state-by-state resources for patients and families. Some of the resources listed are informational, while others are service-based. A listing of past and current research projects funded by the Association can be found on the Grant Awards page, providing a glimpse into the past trends and current progress of research into the histiocytic disorders. The Disease Information section of the website features detailed, reliable information on all of the histiocytic disorders. This can be printed out and shared with medical caregivers, family, and friends if needed.

The Internet is a good source of information about histiocytosis and the treatment options, but the amount of information can be overwhelming, and the information is not always reliable. Some of it, in fact, is inaccurate. Reliable information is more likely to be found in more current documents that are free of grammatical and spelling errors, appear to be objective, are free of advertisements, and clearly state their sources.

It is essential to take an active role in your or your child’s health care. However, many patients and caregivers have little experience being advocates when they first receive a rare disease diagnosis. The following is a list of essential tips for becoming a successful advocate:

  1. Learn about the diagnosed type of histiocytosis and become acquainted with the basic medical terms. Knowledge is empowerment.
  2. Know the warning signs that mean you may need emergency help.
  3. Know who to call in case of an emergency, and keep phone numbers handy.
  4. Keep a list of healthcare members involved in your medical care, along with contact information.
  5. If possible, take a companion (family member or friend) along on important medical appointments. The companion can help with remembering details of what was said and may assist by taking notes.
  6. Write down your questions before entering appointments or meetings and write down further questions as you think of them during the meeting. Don’t be afraid to ask these questions. This will be an important step in beginning to understand more about the disease. Medical information is often confusing and the language used by medical professionals is not easily understood, especially during stress. Whenever someone uses a word that you don’t understand, stop the conversation for a minute and ask the person to explain.
  7. Keep a healthcare notebook with a listing of allergies, medications, symptoms, and communications with healthcare providers.
  8. Find out about resources that the hospital provides, such as a social worker or patient representative. They can often assist with transportation costs, temporary housing if needed, parking fees, insurance issues, counseling, and other services.
  9. Be persistent in getting the care you feel that you or your child needs. Don’t hesitate to ask for what you need, and if you do not feel responded to, ask again or ask someone who will respond.

Trust your intuition. It can be a powerful decision-making tool. You know yourself or your child better than anyone else.

Being sick or caring for a sick child/loved one can be stressful and may take a toll on your physical and emotional health. Recognizing your own needs for support, help, health, and comfort can be difficult when you’re focused on the needs of others, but it’s important to remember that caring for yourself is essential. When your needs are taken care of, your loved ones will also benefit. Give yourself time for regular physical activity and rest. Pay attention to signs of stress, and consult your physician if you need further help.

Articles and Links

Articles

Links

Printable Fact Sheets

Learn more about the different types of histiocytic disorders from these helpful fact sheets. Printing these for family and friends is a quick and easy way to teach them about the disease.

Choose from the following Fact Sheets:

Histiocytic Disorders Overall FAQ

Histiocytic disorders are a diverse group of diseases caused by over-production of white blood cells known as histiocytes, which can lead to organ damage and tumor formation. They include a wide variety of conditions that can affect both children and adults.

The disorders are classified into three groups based on the types of histiocyte cells involved.

  • The first group is called a dendritic cell disorder, and the most common disease in this group is Langerhans cell histiocytosis. Also included in this group are more rare diseases, juvenile xanthogranuloma (JXG) and Erdheim Chester.
  • The second group is called a macrophage cell disorder, and includes primarily hemophagocytic lymphohistiocytosis (HLH) and Rosai-Dorfman.
  • The third group is called malignant histiocytosis and includes certain kinds of leukemia and tumors.

All of the diseases are caused by the over-production of white blood cells called histiocytes. Their different classifications depend on the type of histiocyte involved.

The Histiocytosis Association’s online community provides a number of informational documents and articles, as well as links to medical articles about the histiocytic disorders. While the Internet does provide a significant volume of information about histiocytic disorders, some of this information is not accurate. It is important to look for documents that are current, are free of grammatical and spelling errors, appear to be objective, are free of advertisements, and clearly state their sources.

Histiocytosis is a rare disease that is caused by the over-production of a type of white cell that can lead to organ damage and the formation of tumors. The Histiocytosis Association’s Disease Fact Sheets are also a great way to help explain these complicated diseases to family and friends.

According to the Rare Disease Act of 2002, an orphan disease, also known as a rare disease, affects less than 200,000 persons in the U.S., or less than 1 in 1500 people. The criteria may vary in other countries. For example in Europe, an orphan disease is defined to occur in less than 1 in 2000.

According to the National Institutes of Health there are approximately 6800 such diseases. Combined, they affect nearly 30 million Americans.