Hereditary angioedema due to C1 inhibitor deficiency in Belarus: epidemiology, access to diagnosis and seven novel mutations in SERPING1 gene

Table 1 Epidemiology of the 64 C1-INH-HAE patients identified in Belarus

	C1-INH-HAE population	Type I C1-INH-HAE	Type II C1-INH-HAE
Mean age (SD)	33.2 (2.4)	32 (2.6)	39.8 (5.1)
Mean age of symptom’s onset (SD)	12.3 (1.2)	12.6 (1.4)	11.2 (1.5)
Mean age at diagnosis (SD)	30.7 (2.4)	29.2 (2.6)	38.6 (5.2)
Median of diagnostic delay (IQ₂₅-IQ₇₅)	19.3 (2.4)	12.5 (2.3)	25.5 (5.1)
Median of antigenic C1-INH, g/l (SD)	0.06 (0.17)	0.06 (0.03)	0.44 (0.13)
Median of antigenic C4, g/l (SD)	0.08 (0.07)	0.08 (0.07)	0.055 (0.06)
Median of functional C1-INH, % (SD)	< 15.6 (8.22)	< 15.6 (8.68)	< 15.6 (7.57)

Data about mean age of patients, symptom’s onset, diagnosis and diagnostic delay (expressed in years), and laboratory assessments. Antigenic C1-INH normal range: 0.21–0.39 g/l, antigenic C4 normal range: 0.1–0.4 g/l 1–11 years and 0.2–0.5 g/l > 11 years. Functional C1-INH normal range: 77.3–128.8%

ISSN: 1476-7961