Gastrointestinal Involvement or Abnormalities Reported in Patients with Systemic Mastocytosis
Esophageal
Esophagitis
Esophageal stricture (secondary
In 1869, Nettleship and Tay159 described a 2-year-old child with hyperpigmented, urticarial skin lesions. Their report is credited as being the first description of urticaria pigmentosa. It was not until 187754 that mast cells were first described by Ehrlich, who found cells possessing cytoplasmic granules that stained metachromatically with aniline dyes. He called these cells “mastzellen” because they were distended with granules. Subsequently, in 1878, Sangster191 described a patient with a
As Table 1 shows, the reported frequency of occurrence of gastrointestinal symptoms in patients with systemic mastocytosis has varied greatly in different series.* In the 16 series in Table 1, the mean is 51%, with a range from 14% to 85%. In the early large reviews performed before 1963 by Demis et al49, 50, 51 involving 221, 90, and 113 patients, respectively, only 14% to 24% of all patients had
As Table 2 shows, the frequency of various gastrointestinal symptoms reported in 13 different series* in patients with systemic mastocytosis is less variable than their prevalence (compare with Table 2 and Table 1). In 11 of the 13 series where data were available, abdominal pain was the most common gastrointestinal symptom, occurring with an average frequency of 51% and with a range from 12% to 100% in different
Structural and functional gastrointestinal abnormalities reported in systemic mastocytosis are summarized by frequency of signs in Table 2 and by organ involvement inBox 1. These abnormalities are discussed here and in the next section dealing with the pathogenesis of various symptoms and signs in systemic mastocytosis.
Gastrointestinal Involvement or Abnormalities Reported in Patients with Systemic Mastocytosis
Esophageal
Esophagitis Esophageal stricture (secondary
The gastrointestinal symptoms and signs associated with systemic mastocytosis listed in Table 1. In most cases discussed here, the exact pathogenesis remains unclear. This uncertainty arises in large part because the rarity of systemic mastocytosis makes a rigorous study of a large number of patients difficult. Furthermore, the protean manifestations of systemic mastocytosis combined with the four different categories of the disease make generalizations difficult and increase the difficulty of
In most patients with systemic mastocytosis the principal clinical manifestations include a cutaneous rash (urticaria pigmentosa) with or without flushing episodes combined with abdominal pain (dyspeptic and nondyspeptic), diarrhea, and, occasionally, malabsorption (see Table 2). Some patients with well-documented systemic mastocytosis, especially those with category II to category IV disease, present without urticaria pigmentosa †
Treatment of systemic mastocytosis has been covered in a number of reviews.41, 75, 81, 147, 148, 215 Therefore, it is discussed only briefly here to emphasize some important points related to gastrointestinal symptoms.
The goal of treatment of systemic mastocytosis is twofold. The first goal is to control the effects of the overproduction of mast cell mediators which result primarily in flushing, pruritus, anaphylaxis, and gastrointestinal symptoms (abdominal pain, diarrhea, nausea, vomiting).
Recent studies have shown that involvement of the gastrointestinal tract is much more frequent than originally reported in patients with systemic mastocytosis. Seventy percent to 80% of patients with systemic mastocytosis are found to have gastrointestinal symptoms when a careful history is taken, and abnormalities in the gastrointestinal tract are frequently detected by endoscopic studies, functional studies of absorption, and barium studies. Because of the rarity of the disease, there are few
Address reprint requests to Robert T. Jensen, MD, NIH/NIDDK/DDB, Building 10, Room 9C-103, 10 Center Drive MSC 1804, Bethesda, MD 20892–1804
Digestive Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland