September is Histiocytosis Awareness Month

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1 IMMEDIATE RELEASE September is Histiocytosis Awareness Month Nationwide, September, 2011 September is Histiocytosis Awareness Month, an especially opportune time to raise visibility and funding for histiocytic disorders. The more awareness created, the more likely state and federal governments will financially support the hope for a cure. Histiocytic disorders are a related group of diseases caused by an over-production of white blood cells known as histiocytes, which can lead to organ damage and tumor formation. This group is made up of a wide variety of conditions that mostly affect children, but adults are affected too. "Histiocytic disorders affect fewer than 1 in 200,000 people. It is thus considered an "orphan disease and, as such, does not receive substantial government funding for research, even though the pain and suffering of these patients can be just as severe as those with more prevalent diseases such as cancer and leukemia," said Jeff Toughill, President and CEO of the. He continued by saying, "Raising awareness about these diseases is crucial to the effort to educate physicians who would be in a position to make an early diagnosis so that life saving treatment can begin." In honor of September s awareness month, Anya s boutique, a handmade children s accessories store, located in the Bay Area of California, is donating 50 percent of their sales to the. You can purchase Anya s clothing online at From hosting support groups to organizing fundraising campaigns and events in support of the Histiocytosis Association, there are limitless opportunities to make a difference in the lives of patients with histiocytic disorders. Fundraising is a critical component in furthering research efforts to discover more effective treatments and ultimately, a cure. Join in the fight to save a life, visit About the The is a global nonprofit organization dedicated to addressing the unique needs of patients and families dealing with the effects of histiocytic disorders while leading the search for a cure. It is the only organization of its kind, connecting the patient and medical communities to grow and share knowledge of histiocytic disorders. The Association also provides critical emotional and educational support to patients and families, and identifies and funds key research initiatives that will lead to a world free of histiocytic disorders. Contact: Jeff Toughill Jeffreytoughill@histo.org (856) ###

2 Public Service Announcement RELEASE DATE: SEPTEMBER 1, 2011 Contact: Jeff Toughill, President and CEO Histiocytosis Awareness Month :15 It holds no prejudice and occurs around the world. It attacks vital organs and can be fatal. Histiocytosis is a rare blood disorder that mostly affects children. Join the during September to raise awareness about histiocytic disorders. Visit to get involved today! :30 It holds no prejudice, and it attacks vital organs. It occurs around the world, and it can be fatal. Histiocytosis is a rare blood disorder that mostly affects children. However, it doesn t seem that rare when it hits home. Become an advocate and help save a life today. Join the throughout September to raise awareness about histiocytic disorders. Visit the Association at to get involved today!

3 Fact Sheet What is Langerhans cell histiocytosis? Langerhans cell histiocytosis (LCH) occurs in patients when the body accumulates too many immature Langerhans cells, a subset of the larger family of cells known as histiocytes. A Langerhans cell is a type of white blood cell that normally helps the body fight infection. In LCH, too many Langerhans cells are produced and then build up in certain parts of the body where they can form tumors or damage organs. The cause of this disease is unknown, although many possibilities have been explored, including viruses, exposure to toxins in the environment, family history and geography. LCH is not considered a true cancer and is not caused by a known infection. It is not contagious, nor is it believed to be inherited. LCH is believed to occur in fewer than 1 in 200,000 children, but any age group can be affected. It occurs most often between the ages of 1-3 years. It is, however, believed to be under-diagnosed. Some patients may have no symptoms at all, while others have symptoms that are mistaken for injury or other conditions/diseases. LCH was first described in medical literature in the mid to late 1800 s. Through the years it has been known by various names, such as histiocytosis-x, eosinophilic granuloma, Abt-Letterer-Siwe disease, Hashimoto-Pritzger disease and Hand- Schuller-Christian syndrome. In 1973, the name Langerhans cell histiocytosis was introduced. This name was agreed upon to recognize the central role of the Langerhans cell. What are the symptoms of Langerhans cell histiocytosis?» Skin (rash)» Pituitary gland - causing diabetes insipidus» Bone (single or multiple lesions) (characterized by excessive thirst and urination)» Ear (chronic infections or discharge)» Lung, liver, spleen (dysfunction)» Central nervous system What is the treatment for Langerhans cell histiocytosis? Some cases of LCH with limited involvement may not require treatment. For patients with more extensive disease, chemotherapy may be necessary. Treatment depends upon the individual patient and is planned after thorough testing to determine the extent of the disease. Hematologists and oncologists treat children with Langerhans cell histiocytosis. The is a global nonprofit organization dedicated to addressing the unique needs of patients and Funding the Association Histiocytic disorders are considered orphan diseases. An orphan disease is one that affects fewer than 1 in 200,000 individuals in the United States. Subsequently, these disorders do not receive a high priority for government-funded research. The Association relies on contributions from corporations, foundations and individual donors to fund critical research, build awareness and conduct community outreach initiatives. Langerhans cell histiocytosis (LCH)

4 Fact Sheet Hemophagocytic Lymphohistiocytosis (HLH) What is hemophagocytic lymphohistiocytosis? Hemophagocytic Lymphohistiocytosis (HLH) is a rare disorder of the immune system primarily affecting young infants and children, although it can develop for the first time at any age. According to a large population-based study published in Sweden, it was estimated to occur in 1.2 cases per million. HLH is often referred to as either the primary form which is hereditary, or the secondary form associated with infections, viruses, autoimmune diseases and malignancies (or cancers). What are the symptoms of hemophagocyctic lymphohistiocytosis?» Persistent fever, often high» Liver and spleen dysfunction» Coordination problems» Sudden blindness» Enlarged lymph nodes» Seizures, irritability and fatigue» Immunological dysfunction» Skin rash» Abnormal blood tests» Weakness of face/eye nerves» Paralysis and coma (very rare) What is the treatment for hemophagocytic lymphohistiocytosis? Treatment of HLH/FHL can include a combination of chemotherapy, immunotherapy and steroids. Antibiotics and antiviral drugs may also be used. These treatments may be followed by a stem-cell transplant in patients with persistent or recurring HLH or those with FHL. What is the difference between the primary and secondary forms of HLH? The primary form of HLH is also known as familial hemophagocytic lymphohistiocytosis (FHLH or FHL) and happens when defective genes are inherited from either both parents (autosomal recessive) or from the mother alone. Since 1999, five genes have been identified which correspond with five types of autosomal recessive HLH. Secondary HLH is often diagnosed in older patients, and there is no family history of this form of disease. It may be associated (but not known to be caused by) with vaccinations, viral infections such as Epstein-Barr, cytomegalovirus (CMV), herpes virus and other underlying diseases. The is a global nonprofit organization dedicated to addressing the unique needs of patients and families dealing with the effects of histiocytic disorders while leading the search for a cure. Funding the Association Histiocytic disorders are considered orphan diseases. An orphan disease is one that affects fewer than 1 in 200,000 individuals in the United States. Subsequently, these disorders do not receive a high priority for government-funded research. The Association relies on contributions from corporations, foundations and individual donors to fund critical research, build awareness and conduct community outreach initiatives.

5 What is Rosai Dorfman disease? Fact Sheet Rosai Dorfman Disease Rosai-Dorfman disease (RD), also 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. These cells then accumulate, most often in the lymph nodes, but may occur in other areas of the body and can lead to organ damage. 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 patients 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 Rosai-Dorfman disease. The true number of RD cases is not known, although it does occur worldwide and seems to affect equal numbers of males and females. It is most commonly seen in the first 10 years of life, but it also occurs in adult patients. Because this disease is so rare, no large research studies have been performed, and there is no established, widelyaccepted treatment. However, RD is usually not life-threatening, and many patients do not require treatment. What are the symptoms of Rosai Dorfman disease?» Fever» Weightloss» Paleness/anemia» Headaches» Weakness» Shortness of Breath» Lymph node enlargement» Nosebleeds» Blockage or discharge of the nose What is the treatment for Rosai Dorfman disease? It is believed that 70% to 80% of patients have spontaneous improvement of symptoms without treatment, although they may have alternating episodes of worsening and relieving of symptoms for a long period of time. Some patients with severe or persistent disease or cases where organ function is threatened (such as breathing obstruction or kidney failure) may require treatment with surgery, steroids, and/or chemotherapy. Rarely, radiation therapy may be used. The is a global nonprofit organization dedicated to addressing the unique needs of patients and Histiocytic disorders affect fewer than 1 in 200,000 people. It is thus considered an orphan disease and, as such, does not receive substantial government funding for research The Association relies on contributions from corporations, foundations and individual donors to fund critical research, build awareness and conduct community outreach initiatives.

6 What is Erdheim-Chester disease? Fact Sheet Erdheim-Chester disease (ECD) is a rare form of non-langerhans cell histiocytosis. It involves the excessive production of histiocytes, which are a type of white blood cell. These cells, which normally help fight infection and injury, then gather in different organs and tissues and can result in a variety of symptoms, including organ failure. Erdheim-Chester is a disease that most often becomes apparent in middle age, with an average age at onset of 53 years. It can affect both men and women. The rate of occurrence is not known, although it is believed to be under-diagnosed and/or misdiagnosed. At the present time, it is not categorized as a cancer, immune disorder, or infection. It is not believed to be contagious or hereditary. The cause is not known. This disease mostly affects long bones (arms and legs), but it can occur in the tissues behind the eyeballs, kidney, skin, brain, lung, heart, pituitary gland, and a part of the posterior abdominal wall called the retroperitoneum. Erdheim- Chester is sometimes mistaken for Langerhans cell histiocytosis. However, a biopsy of the affected tissue differs in a number of ways from LCH and can establish a definite diagnosis. The cells in ECD stain for the same proteins as juvenile xanthogranuloma disease but the clinical presentation and age is different. The symptoms and course of the disease depend on the location and extent of the involvement of the internal organs (i.e. the disease outside the bones). What are the symptoms of Erdheim-Chester disease?» Difficulty with coordination, slurred speech, behavior disorders, and rapid, involuntary eye movement» Bulging eyes, difficulty with vision including double vision, yellow bumps on eyelids What is the treatment for Erdheim-Chester disease?» Pain in bones (mostly arms and legs)» Kidney pain and disfunctionality» Lower back and stomach pain Because this is a very rare disease, no treatment plan has been established that is widely accepted. However, various treatments have been used by individual doctors with different levels of succes; these include: systemic corticosteroids, a kind of drug based on hormones that work to reduce inflammation in the body, and immunotherapy, also known as interferon, to restore the ability of the immune system to fight off infections. It is usually given as an injection; chemotherapy, drugs usually given in the vein to control the over-production of histiocytes. used. Also, radiation and surgery may be used for treatment. The is a global nonprofit organization dedicated to addressing the unique needs of patients and Histiocytic disorders affect fewer than 1 in 200,000 people. It is thus considered an orphan disease and, as such, does not receive substantial government funding for research The Association relies on contributions from corporations, foundations and individual donors to fund critical research, build awareness and conduct community outreach initiatives. Erdheim-Chester Disease

7 What is Juvenile xanthogranuloma disease? Fact Sheet Juvenile xanthogranuloma, also known as JXG, is a rare, non-langerhans cell histiocytosis that is usually benign and self-limiting. It occurs most often in the skin of the head, neck, and trunk but can also occur in the arms, legs, feet, and buttocks. JXG can affect the eye, most commonly in young children with multiple skin lesions. Less commonly JXG may involve locations such as the lung, liver, adrenal gland, appendix, bones, bone marrow, pituitary gland, central nervous system, kidney, heart, small and large intestines, and spleen. JXG involves the over-production of a kind of histiocyte called a dendritic cell (not a macrophage). These cells then accumulate and lead to various symptoms, depending on location. The cause of this disease is not known. JXG mainly affects infants and small children with an average age of 2 years; however it can also occur in adults of all ages. Most of the time, it presents as a single skin lesion which varies in size, but children less than 6 months of age are more likely to have multiple lesions. It occurs at birth in about 10% of patients, and more males are affected than females. When JXG occurs in adults, it tends to be more complicated and is not known to spontaneously improve. The total number of patients with JXG is not known, but it may be higher than reported since this disease is sometimes misdiagnosed or may spontaneously improve in children. What are the symptoms of Juvenile xanthogranuloma disease?» Reddened, yellowish or brownish, slightly raised, and rubbery bumps on the skin» Abnormalities in blood counts» Abnormalities in blood liver tests What is the treatment for Juvenile xanthogranuloma disease?» Elevated inflammation level (sedimentation rate) in the blood» Potentially diabetes insipidus Patients with few lesions usually need no therapy. Surgical removal may be undertaken for several reasons: to obtain a biopsy for diagnosis, when there is an organ-function problem because of disease, for cosmetic reasons or to remove scar tissue. Apart from these reasons, skin-only JXG in children should be observed without therapy. For patients who have symptomatic or rapidly growing disease, treatment with chemotherapy or low-dose radiation has been reported, although there is no standard treatment that is agreed upon. With eye involvement, steroids may be applied to the surface of a lesion, injected, or taken in pill form. Rarely low dose radiation treatment may be given to prevent visual loss. The is a global nonprofit organization dedicated to addressing the unique needs of patients and Histiocytic disorders affect fewer than 1 in 200,000 people. It is thus considered an orphan disease and, as such, does not receive substantial government funding for research The Association relies on contributions from corporations, foundations and individual donors to fund critical research, build awareness and conduct community outreach initiatives. Juvenile Xanthogranuloma Disease

8 What is Diabetes Insipidus? Fact Sheet Diabetes insipidus (DI) is a rare disorder that can occur as a consequence of histiocytosis involving the pituitary gland. It should not be confused with the more common diabetes mellitus, also known as sugar diabetes, which results from too much sugar in the blood. Although both disorders have similar symptoms, in every other way, including the cause and treatment, they are completely unrelated diseases. The rate of occurrence for DI is not known, because there is no organized method to count the number of patients. Diabetes insipidus is a result of damage to the pituitary gland, a small gland at the base of the brain which stores and releases a hormone called ADH (antidiuretic hormone), also known as vasopressin. This hormone normally causes the kidney to control the amount of water released as urine from the body. When the pituitary is damaged, the kidneys lose too much water resulting in increased urination, which then leads to increased thirst. The connection between histiocytosis and diabetes insipidus was first reported in the late 1800s. Since then, DI has been recognized as a characteristic feature of Langerhans cell histiocytosis. It is known to also occur in other histiocytic disorders, such as Rosai Dorfman and JXG. What are the symptoms of Diabetes Insipidus?» Dehydration» Sticky mouth or reduced tears» Change in appetite» Fatigue/sleepiness What is the treatment for Diabetes Insipidus?» Low body temperature» Rapid heart rate» Low blood pressure/shock» Extreme thirst and frequent urination DI that is undiagnosed and untreated can dramaticly hurt a patient s everyday life. Because of the extreme urination and thirst, activities of daily living can be greatly affected: work and school schedules are interrupted, and social events may be compromised. Sleeping through the night is often not possible and travel is difficult. Some patients have been told that they have a compulsive drinking disorder and must go without fluids; however, this can be dangerous and even life-threatening. Once diagnosed and treated with synthetic vasopressin called DDAVP, symptoms quickly improve, and a normal quality of life is restored. The is a global nonprofit organization dedicated to addressing the unique needs of patients and Diabetes Insipidus Histiocytic disorders affect fewer than 1 in 200,000 people. It is thus considered an orphan disease and, as such, does not receive substantial government funding for research The Association relies on contributions from corporations, foundations and individual donors to fund critical research, build awareness and conduct community outreach initiatives.