I am KIT D816V. I hide behind a wide range of unexplained and persistent symptoms. If you know what to look for, you can find me.12,27,28
Small monomorphic lesions often appear on the thighs or trunk of the body.
Wheal-and-flare reaction is elicited by stroking lesion with a tongue spatula.
Anaphylaxis is often coupled with hypotension and is potentially fatal.
In adults, rashes may frequently be diagnosed as cutaneous mastocytosis, although systemic mastocytosis criteria can reveal systemic mastocytosis when fully investigated.18
Commonly triggered by hymenoptera stings (such as bees or wasps) or can be idiopathic. Clinical course of anaphylactic reactions in patients with systemic mastocytosis is often severe and presents with cardiovascular features including hypotensive syncope.31
While increased presence of gastrointestinal (GI) mucosal mast cells is seen in many common GI disorders such as irritable bowel disease, spindle-shaped mast cell aggregates and/or CD25 expression are unique to only systemic mastocytosis.32
The profiles below are examples of different patient types, which may help you recognize patients in your practice who may be at risk for systemic mastyocytosis. Patient profiles are fictionalized through review of published literature and are not actual patients.
presenting to his hematologist/ oncologist
presenting to her dermatologist
presenting to ER
Patient history and presentation:
Full lab results:
Patient history and presentation:
Full lab results:
Patient history and presentation:
Full lab results:
This website is intended for U.S. healthcare professionals only. This website does not provide medical advice and is for educational purposes only.
Blueprint Medicines and associated logo are trademarks of Blueprint Medicines Corporation.
All other trademarks are the property of their respective owners.
© 2022 Blueprint Medicines Corporation.
02/2022 USBP-PRSM-20.011.5
By continuing, you confirm that you are a U.S. healthcare professional.
You will enter a website that is not owned or controlled by Blueprint Medicines. Blueprint Medicines is not responsible for any information, statements, or other content you may encounter on third-party websites and makes no representation as to the accuracy of information contained on websites we do not own or control. Further, Blueprint Medicines does not recommend nor endorse the content of any third-party website. Your use of a third-party website is subject of the terms and conditions of use for such sites.