Ok, here’s one for ya : 24 year old male presents to the ED complaining of extreme abdominal pain and diarrhea. Patient is morbidly obese, but otherwise healthy. BP is elevated at 176 / 94 and tachycardic at 107. Patient claims that recently every time he is out in the sun that he starts getting “red splotchy” marks on his skin that are also very itchy. Patient was previously prescribed 30mg Oxycodone q4 for pain management, but claims it’s not managing his pain. Blood tests are run blood and urine tests are run as well as a skin punch. Mutations in KIT gene are present as well as an elevation of histamines. Because of these elevations, an endocrinologist is called in, ends suggests an aspiration of bone marrow, elevated levels of tryptase level is 27 ng/ml. Given this information what condition would you diagnose?
Correct!!!!!!!!!! Specifically Systemic Mastocytosis, Mast Cell Activation Syndrome presents a little differently.
Kind of, while systemic mastocytosis IS an autoimmune disease, not all autoimmune diseases have mutations in KIT and elevation in Tryptase.