A case involving a patient with an uncommon presentation of systemic mastocytosis (SM) that showcased diagnostic challenges and resulted in a surgery for spleen removal (splenectomy) has been recently reported in Cureus.
The case involved a 63-year-old man with a five-year long history of mild low platelet count (thrombocytopenia) of unknown cause. The patient had a history of moderate daily alcohol consumption since his youth.
Thrombocytopenia is a common finding in clinical practice; several causes, such as an adverse reaction to heparin, liver cirrhosis, dengue fever and some forms of cancer, can cause it.
SM can lead to increased spleen size and function, leading to thrombocytopenia. However, thrombocytopenia is not the most common initial manifestation of the disease.
Learn more about SM signs and symptoms
“In this case report, we present a patient diagnosed with SM with large burden spleen involvement,” the authors wrote. “This report aims to add to the existing understanding of SM and emphasize the significance of early detection of spleen involvement for better patient outcomes.”
During the patient’s routine hematological check-up, the physician detected increased spleen size; subsequent sonography confirmed the finding and led to the discovery of increased liver size (hepatomegaly).
Due to slightly increased liver enzymes, the findings were attributed to liver disease due to chronic alcohol consumption, and the patient started an abstinence program.
Despite 12 months of abstinence, the symptoms persisted, and this prompted the physicians to perform a bone marrow examination, which revealed the presence of mast cells; further examination of these mast cells showed they had immunophenotypic alterations.
A liver biopsy revealed mild liver damage that did not fully explain the observed symptoms shortly after the patient experienced weight loss, abdominal pain consistent with splenomegaly, and worsening thrombocytopenia.
The physicians then performed a spleen biopsy that showed the presence of mast cells; this finding, together with a bone marrow biopsy that showed more than 40% of mast cells, led to the diagnosis of SM.
The patient underwent a splenectomy and is currently doing well with complete resolution of symptoms.
“The diagnosis of SM in this case was incidental and unexpected, emphasizing the necessity of a comprehensive differential diagnosis when evaluating patients with splenomegaly and secondary thrombocytopenia,” the authors concluded.
