A case study recently published in The American Journal of the Medical Sciences illustrated the difficulty of diagnosing systemic mastocytosis (SM), particularly in children.
Many patients with SM experience nonspecific symptoms, making it difficult to receive a correct and timely diagnosis. In the present study, the authors underscored the importance of collaboration and maintenance of detailed medical records.
What is SM?
Systemic mastocytosis (SM) is a rare hematological disease characterized by mast cells that are overactive and accumulate in different parts of the body such as the bone marrow, liver, spleen, gastrointestinal tract and lymph nodes.
The report described a 19-month-old female patient with a history of eczema, preterm birth and developmental delay. She presented with acute respiratory failure following a case of viral bronchitis. The initial presentation delayed the diagnosis of SM, emphasizing the need for a more interdisciplinary approach, the authors said.
Read more about SM signs and symptoms
“Though uncommon in pediatric populations, systemic mastocytosis requires a high index of suspicion and comprehensive diagnostic evaluation, including lab work, consults, and imaging,” the authors said.
A physical examination of the patient revealed purpuric rash on the abdomen and legs. Purpura refers to purple discoloration of the skin caused when small blood vessels burst. The authors also observed widespread eczema.
After the patient’s original symptoms dissipated, she experienced anaphylaxis involving both the skin and respiratory tract. No trigger was identified for her reaction. Subsequent bloodwork showed very high levels of immunoglobulin E (IgE), as well as increased tryptase levels and an elevated number of white blood cells, particularly basophils.
An abdominal ultrasound was performed, which showed some irregularities in the liver. Several skin biopsies were also taken, which revealed elevated numbers of mast cells consistent with a diagnosis of SM.
Upon examining her prior medical history, the authors discovered that the patient had previously experienced several symptoms indicative of SM, including flushing, diarrhea, join pain and poor circulation.
The patient was prescribed an epinephrin pen, cetirizine and famotidine upon discharge. The family was instructed to get regular follow-up consultations.
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