<\/span><\/h2>\nMultiple Endocrine Neoplasia Syndromes (MEN) <\/span>they are mainly hereditary diseases in which various endocrine glands develop benign<\/span> (non-cancerous) or evil one<\/span> (cancerous) tumors or hyperplasia<\/span> (grow excessively without forming tumors).<\/p>\nThere are 2 main types of MEN, MEN type 1 and MEN type 2. MEN type 2 is divided into 3 subtypes:<\/p>\n
\n- MEN type 2A<\/li>\n
- FMTC (family<\/span> medullary thyroid carcinoma<\/span>)<\/li>\n
- MEN type 2B (previously known as MEN type 3).<\/li>\n<\/ul>\n
Multiple endocrine neoplasia type 2B has additional features including mucous membrane<\/span> neuromas (nerve tumors in the mucous<\/span> membranes), neuromas in the intestine leading to gastrointestinal abnormalities, and a striking facial appearance associated with marfanoid habit (long, long, slender, slender fingers, and a high arched palate such as Marfan's disease). These characteristics may be the first sign<\/span> from an intern malignancy<\/span> and should provoke further investigation.<\/p>\n<\/span>What is MEN disease type 2B?<\/span><\/h2>\nLike MEN type 2A disease, MEN type 2B disease carries a high risk of developing medullary thyroid carcinoma and pheochromocytoma (a vascular<\/span> tumor<\/span> of the adrenal gland which can cause high blood pressure).<\/p>\nMEN type 2B disease is also characterized by the early development of multiple mucosal neuromas. Neuromas appear as:<\/p>\n
\n- Bright bumps around the lips, tongue, and lining of the mouth<\/li>\n
- Bumps on the eyelids that are often thickened; neuromas may also appear on the eyelid cornea<\/span> and conjunctiva<\/span>\n<\/li>\n
- Growths in the gastrointestinal tract that can cause constipation, diarrhea, and, in some cases, an enlarged colon (megacolon).<\/li>\n<\/ul>\n
Patients with MEN type 2B disease often also develop abnormalities of the spine and bone abnormalities in the feet and thighs. Many have long limbs and loose joints. These characteristics, together with thickened lips and eyelids, are associated with the marfanoid habit (Marfan's characteristics syndrome<\/span>)<\/p>\n\n
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<\/span>What is the cause of MEN type 2B disease?<\/span><\/h2>\nIn 95% cases, MEN type 2B disease is due to a mutation<\/span> at tyrosine kinase<\/span> RET domain gene<\/span> at codon 918 in exon 16. The RET gene is a protocogene, which means that a mutation can predispose<\/span> to the formation of cancers.<\/p>\nAll MEN 2 subtypes are inherited in a autosomal<\/span> The dominant way and the offspring of affected individuals have a 50% chance of inheriting the disease. However, not all cases of MEN type 2B are inherited, as there are some people with the disease who have no family history. Approximately 50% of affected individuals have been found to inherit the mutation from a parent and 50% has a new mutation.<\/p>\n\n<\/span>Genetics of multiple endocrine neoplasia *<\/span><\/h5>\n<\/section>\n\n\n
\n
\n<\/div>\n
Multiple endocrine neoplasm MEN<\/p>\n<\/p><\/div>\n<\/section>\n
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* Image courtesy of Genetics 4 Medics<\/p>\n
<\/span>How was the diagnosis made?<\/span><\/h2>\nThe diagnosis of MEN type 2B is made clinically by the presence of:<\/p>\n
\n- neuromas of the mucosa of the lips and tongue<\/li>\n
- medullary corneal nerve fibers in the eye<\/li>\n
- distinctive facies<\/span> with enlarged lips<\/li>\n
- aspheric habitus of the "marfanoid" body<\/li>\n
- medullary thyroid carcinoma<\/li>\n<\/ul>\n
Molecular<\/span> genetic<\/span> Tests can be used to confirm the diagnosis, for predictive testing, and to prenatal<\/span> diagnosis.<\/p>\n<\/span>What is the treatment for MEN type 2B disease?<\/span><\/h2>\nPeople with MEN type 2B disease should have their thyroid gland removed at a very young age (about 1 year) to reduce the risk of thyroid. Cancer<\/span>. Compared to other types of thyroid cancer, medullary thyroid carcinoma is a very aggressive cancer. If the thyroid is not removed in childhood, the average age of death in people with MEN type 2B disease is around 21 years. Once the thyroid is removed, patients must take thyroid hormone replacements (thyroxine) for the rest of their lives.<\/p>\nThere is no known cure for any of the MEN syndromes. Patients are treated for their symptoms. Annual biochemical urine screening for pheochromocytoma is recommended for all patients. Genetic testing is also important for people with a family history of the disease, as early diagnosis and treatment will reduce the risk of thyroid cancer and death.<\/p>\n<\/section>","protected":false},"excerpt":{"rendered":"
\u00bfQu\u00e9 son m\u00faltiples? endocrino neoplasia s\u00edndromes? S\u00edndromes de neoplasia endocrina m\u00faltiple (MEN) son principalmente enfermedades hereditarias en las que se desarrollan varias gl\u00e1ndulas endocrinas benigno (no canceroso) o maligno tumores…<\/p>","protected":false},"author":8,"featured_media":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","format":"standard","meta":{"footnotes":""},"categories":[204],"tags":[],"class_list":["post-16695","wiki","type-wiki","status-publish","format-standard","category-glosario-definiciones"],"_links":{"self":[{"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/wiki\/16695","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/wiki"}],"about":[{"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/types\/wiki"}],"author":[{"embeddable":true,"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/users\/8"}],"replies":[{"embeddable":true,"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/comments?post=16695"}],"version-history":[{"count":0,"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/wiki\/16695\/revisions"}],"wp:attachment":[{"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/media?parent=16695"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/categories?post=16695"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/tags?post=16695"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}