Systemic Mastocytosis Clinical Presentation

Updated: May 30, 2023
  • Author: Devapiran Jaishankar, MBBS; Chief Editor: Emmanuel C Besa, MD  more...
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Patients with systemic mastocytosis (systemic mast cell disease) can have signs and symptoms related to involvement of the hematopoietic system, the gastrointestinal (GI) tract, the skin, and the immune system. Additional coexistent hematologic disorders may also be a source of clinical manifestations. Systemic mastocytosis is known to be associated with a number of other hematologic diseases, including the following:

The incidence of various symptoms reported in one of the largest case series of systemic mastocytosis is as follows [8] :

  • GI symptoms - 65%
  • Cutaneous symptoms - 53%
  • Mediator-related symptoms - 47%
  • Constitutional complaints - 42%
  • Urticaria pigmentosa - 41%
  • Musculoskeletal symptoms - 31%
  • Idiopathic and/or recurrent anaphylactoid reactions - 17%

Many GI manifestations are observed in patients with systemic mastocytosis. Abdominal pain is the most common GI symptom, followed, by diarrhea, nausea, and vomiting. Symptoms and signs of gastroesophageal reflux disease (GERD) and malabsorption are noted in some patients. Duodenal ulceration and severe duodenitis is seen in 30% to 50% of untreated cases. [26]

Some studies show precipitation of GI manifestations by agents such as penicillin, narcotics, cocaine, aspirin, [35] nonsteroidal anti-inflammatory drugs (NSAIDs), and dipyridamole (Persantine). These drugs can also provoke anaphylaxis, vascular collapse, or syncope.

Pruritus seem to be as common as GI complaints in patients with systemic mastocytosis. Patients may present with pruritus and flushing if their mastocytosis is associated with cutaneous abnormalities.

While the risk of recurrent anaphylactoid reaction is well known, it appears that the association with Hymenoptera (eg, bee, wasp) stings is stronger than the association with other food- and drug-induced systemic reactions. [4]

Caution during anesthesia in the endoscopic and surgical suites is advised. Rare anaphylactoid reactions to intravenous contrast have been reported. [5]

Anemia and coagulopathy (eg, acquired von Willebrand syndrome [36] ) may be observed.


Physical Examination

Physical examination findings in patients with systemic mastocytosis (systemic mast cell disease) may include the following:

  • Signs of anemia, such as pallor, can be noted in some patients.
  • Hepatomegaly (27%),  splenomegaly (37%), and lymphadenopathy (21%) can be found in adult patients. [8]
  • GI bleeding may be present; contributing factors may include thrombocytopenia caused by splenomegaly, hypersplenism, and a rise in portal pressure; heparin release from mucosal mast cells; and vitamin K malabsorption resulting from mast cell involvement.
  • Patients may have signs of urticaria (41%) if the mastocytosis is associated with cutaneous involvement; in these situations, flushing can be noted upon physical examination.
  • Osteolysis and pathological fractures are rarely noted (7%).