Severe Anemia With Intraosseous-Intramuscular Hemorrhage in a Patient With Kit-C-Negative Systemic Mastocytosis
Year: 2025
Type: article
Study design: Case Report
Abstract: Systemic mastocytosis (SM) is a rare hematologic disorder characterized by clonal proliferation of mast cells in various tissues, often presenting with skin lesions, gastrointestinal symptoms, or anaphylaxis. However, atypical presentations lacking these classical features may delay diagnosis and complicate management. We report the case of a 42-year-old woman who presented with progressive anemia, recurrent spontaneous intramuscular and intraosseous hemorrhages, and severe, unexplained pain. Notably, she lacked cutaneous signs or known allergic triggers. Extensive laboratory and imaging workups ruled out common hematologic and autoimmune causes. Bone marrow biopsy ultimately revealed multifocal clusters of atypical mast cells consistent with SM, despite the absence of the KIT D816V mutation. This case underscores the protean manifestations of SM and the need to maintain a high index of suspicion in patients with unexplained cytopenia and bleeding. It also highlights the role of bone marrow evaluation in the diagnostic pathway, even when classic clinical features are absent. Timely recognition of atypical SM can guide appropriate management and improve patient outcomes.
Source: Cureus
DOI: 10.7759/cureus.84798
Authors: Natalia Fongrat, Anjali Davichan, Christopher Vaughn, Sagah Ahmed, Andrew Mangano
Institution: Mary Washington Hospital
Language: English
Topic: Mast cells and histamine
Subfield: Immunology
Field: Immunology and Microbiology
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4410720969