Erdheim-Chester disease
Dernière mise à jour 21 mars 2023
Respecte les directives éditoriales
- TéléchargerTélécharger
- Partager
- Language
- Discussion
- Version audio
- Ajouter aux sources préférées sur Google
Erdheim-Chester disease is a rare type of slow-growing blood cancer called a histiocytic neoplasm, which results in overproduction of cells called histiocytes. Histiocytes normally function to destroy foreign substances and protect the body from infection. In Erdheim-Chester disease, the excess production of histiocytes (histiocytosis) leads to inflammation that can damage organs and tissues throughout the body, causing them to become thickened, dense, and scarred (fibrotic); this tissue damage may lead to organ failure.
Description
Erdheim-Chester disease is a rare type of slow-growing blood cancer called a histiocytic neoplasm, which results in overproduction of cells called histiocytes. Histiocytes normally function to destroy foreign substances and protect the body from infection. In Erdheim-Chester disease, the excess production of histiocytes (histiocytosis) leads to inflammation that can damage organs and tissues throughout the body, causing them to become thickened, dense, and scarred (fibrotic); this tissue damage may lead to organ failure.
People with Erdheim-Chester disease often have bone pain, especially in the lower legs and upper arms, due to an abnormal increase in bone density (osteosclerosis). Damage to the pituitary gland (a structure at the base of the brain that produces several hormones, including a hormone that controls the amount of water released in the urine) may result in hormonal problems such as a condition called diabetes insipidus that leads to excessive urination. Abnormally high pressure of the cerebrospinal fluid within the skull (intracranial hypertension) caused by accumulation of histiocytes in the brain may result in headaches, seizures, cognitive impairment, or problems with movement or sensation. People with this condition can also have shortness of breath, heart or kidney disease, protruding eyes (exophthalmos), skin growths, or inability to conceive a child (infertility). Affected individuals may also experience fever, night sweats, fatigue, weakness, and weight loss.
The signs and symptoms of Erdheim-Chester disease usually appear between the ages of 40 and 60, although the disorder can occur at any age. The severity of the condition varies widely; some affected individuals have few or no associated health problems, while others have severe complications that can be life-threatening.
Inheritance patterns
The source lists the following possible inheritance patterns: Not inherited. More than one pattern can apply in different cases.
Related genes
Other names
Lipid granulomatosis
Polyostotic sclerosing histiocytosis
Related patient information and medicines
Patient information leaflet
Maladie cardiaque congénitale
Maladie cardiaque congénitale is a condition where an abnormality (defect) develops in the heart before birth. There are a number of types of congenital heart defect. Some are mild and cause few problems; others are life-threatening for the baby. What is congenital heart disease. Abnormalities or defects of the heart which develop before birth are.
Patient information leaflet
maladie d'Alzheimer
maladie d'Alzheimer is a cause of dementia. There is no cure and it can cause a great deal of distress for those affected and their families. However, early diagnosis is important because there is a great deal of support as well as medication that can help. What is Alzheimer's disease. Alzheimer's disease is the most common cause of dementia..
Patient information leaflet
Maladie cœliaque
Maladie cœliaque (also spelled celiac disease) mainly affects the part of the gut called the small intestine. Coeliac disease is caused by a reaction of the gut to gluten. (For this reason it is sometimes also called gluten-sensitive enteropathy). What is coeliac disease. Coeliac disease is a condition that causes inflammation in the lining of part.
Patient information leaflet
Maladie polykystique des reins
Polycystic kidney disease (PKD) causes many fluid-filled sacs (cysts) à develop in the kidneys. The most common type of PKD is an inherited condition called autosomal dominant polycystic kidney disease (ADPKD). Although people with PKD often develop kidney failure (end-stage kidney disease) between ages 55 to 65 years, some people with PKD have a.
Patient information leaflet
Maladies liées à l'amiante
People exposed to asbestos peuvent develop diseases dans later life. These most commonly affect the lungs but can also affect the lining of the tummy (abdomen). Some conditions - for example, mesothelioma or lung cancer - are more serious than others. This leaflet gives a brief overview of the diseases that are related to having an exposure to asbestos.
Patient information leaflet
Régurgitation mitrale
The mitral valve is a heart valve that lies between the left atrium and left ventricle. What is mitral regurgitation. Mitral regurgitation is sometimes called mitral insufficiency or mitral incompetence. In mitral regurgitation the valve does not close properly. This causes blood to leak back (regurgitate) into the left atrium when the left.
Lectures complémentaires et références
- Erdheim-Chester disease; MedlinePlus, National Library of Medicine.
- Bosco J, Allende A, Varikatt W, Lee R, Stewart GJ. Does the BRAF(V600E) mutation herald a new treatment era for Erdheim-Chester disease? A case-based review of a rare and difficult to diagnose disorder. Intern Med J. 2015 Mar;45(3):348-51. doi: 10.1111/imj.12685.
- Campochiaro C, Tomelleri A, Cavalli G, Berti A, Dagna L. Erdheim-Chester disease. Eur J Intern Med. 2015 May;26(4):223-9. doi: 10.1016/j.ejim.2015.03.004. Epub 2015 Apr 10.
- Cives M, Simone V, Rizzo FM, Dicuonzo F, Cristallo Lacalamita M, Ingravallo G, Silvestris F, Dammacco F. Erdheim-Chester disease: a systematic review. Crit Rev Oncol Hematol. 2015 Jul;95(1):1-11. doi: 10.1016/j.critrevonc.2015.02.004. Epub 2015 Feb 17.
- Diamond EL, Dagna L, Hyman DM, Cavalli G, Janku F, Estrada-Veras J, Ferrarini M, Abdel-Wahab O, Heaney ML, Scheel PJ, Feeley NK, Ferrero E, McClain KL, Vaglio A, Colby T, Arnaud L, Haroche J. Consensus guidelines for the diagnosis and clinical management of Erdheim-Chester disease. Blood. 2014 Jul 24;124(4):483-92. doi: 10.1182/blood-2014-03-561381. Epub 2014 May 21.
- Graziani G, Podesta MA, Cucchiari D, Reggiani F, Ponticelli C. Erdheim-Chester disease: from palliative care to targeted treatment. Clin Kidney J. 2014 Aug;7(4):339-43. doi: 10.1093/ckj/sfu068. Epub 2014 Jul 15.
- Haroche J, Arnaud L, Cohen-Aubart F, Hervier B, Charlotte F, Emile JF, Amoura Z. Erdheim-Chester disease. Curr Rheumatol Rep. 2014 Apr;16(4):412. doi: 10.1007/s11926-014-0412-0.
- Mazor RD, Manevich-Mazor M, Shoenfeld Y. Erdheim-Chester Disease: a comprehensive review of the literature. Orphanet J Rare Dis. 2013 Sep 8;8:137. doi: 10.1186/1750-1172-8-137.
- Swerdlow SH, Campo E, Pileri SA, Harris NL, Stein H, Siebert R, Advani R, Ghielmini M, Salles GA, Zelenetz AD, Jaffe ES. The 2016 revision of the World Health Organization classification of lymphoid neoplasms. Blood. 2016 May 19;127(20):2375-90. doi: 10.1182/blood-2016-01-643569. Epub 2016 Mar 15.
Participez à la conversation
Partagez vos pensées ou expériences avec les autres dans notre communautés de patients.
Demandez, partagez, connectez-vous.
Parcourez les discussions, posez des questions et partagez vos expériences sur des centaines de sujets de santé.
Inscrivez-vous à la newsletter Patient
Votre dose hebdomadaire de conseils de santé clairs et fiables - rédigés pour vous aider à vous sentir informé, confiant et maître de la situation.
En vous abonnant, vous acceptez notre Politique de confidentialité. Vous pouvez vous désabonner à tout moment. Nous ne vendons jamais vos données.