Monoclonal mast cell activation syndrome
Synonyms: Monoclonal MCAD
A rare hematologic disease characterized by symptoms of mast cell activation in the absence of cutaneous findings as well as absence of diagnostic criteria of systemic mastocytosis with tryptase levels of less than 20 ng/ml and normal to low burden of mast cells. Bone marrow biopsy reveals the presence of monoclonal mast cells carrying the KIT D816V mutation and/or expressing CD25. Patients present with recurrent episodes of flushing headache hypotension abdominal cramping nausea diarrhea cardiac arrhythmias bronchoconstriction and bleeding diathesis among others.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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