Table 1.
Characteristics of index patients, their first-degree relatives, and healthy controls.
Table 2.
Prevalence of MCAD in first-degree relatives and healthy subjects (A) and within the first-degree relatives group (B).
Table 3.
Odds ratios for the symptoms and findings collected in the questionnaire (independent variables) occurring in patients, compared with the healthy control group.
Table 4.
Odds ratios for the symptoms and findings collected in the questionnaire (independent variables) occurring in first-degree relatives, compared with the healthy control group.
Figure 1.
Pedigree of a family with a high familial loading of mast cell activation disease.
Filled symbols indicate family members with either systemic mastocytosis (SM), according to WHO criteria, or mast cell activation syndrome (MCAS); open symbols denote clinically healthy family members. Squares, males; circles, females; symbols with a diagonal line through, deceased. Mild, moderate and severe indicate the clinical intensity of the mast cell activation disease. The arrow indicates the index patient. Bold type: genetic alterations detected in the tyrosine kinase, KIT. GNNK(–/+): ratio of the GNNK(–) over the GNNK(+) isoform (i.e., the amount of PCR amplification product without and with the tetrapeptide sequence glycine-asparagine-asparagine-lysine [GNNK]).