Table 1.

PAH-HHT patients described in literature.

Study	Number of Patients	Genetics	Family Members
Trembath et al., 2001 [39]	8	ACVRL1 n = 8	n = 5 (2 families)
Harrison et al., 2003 [40]	14	ACVRL1 n = 9, ENG n = 2, Unknown n = 3 *	n = 0
Abdalla et al., 2004 [41]	10	ACVRL1 n = 10	n = 0
Chaouat et al., 2004 ¥ [50]	1	ENG n = 1 **	NA
Harrison et al., 2005 [42]	2	ACVRL1 n = 1, ENG n = 1	NA
Mache et al., 2008 ¥ [51]	1	ENG n = 1	NA
Smoot et al., 2009 [43]	3	ACVRL1 n = 3	n = 0
Girerd et al., 2010 [44]	9	ACVRL1 n = 9	n = 4 (1 family)
Lyle et al., 2015 [45]	12	ACVRL1 n = 4, Unknown n = 8 *	Unknown
Montani et al., 2009 ¥ [46]	1	ACVRL1 n = 1	NA
Chida et al., 2012 [47]	7	ACVRL1 n = 7	n = 0
Fujiwara et al., 2008 [48]	5	ACVRL1 n = 5	n = 0
Chen et al., 2013 [52]	12	ACVRL1 n = 7, ENG n = 2, Unknown n = 3 *	n = 0
Machado et al., 2015 [49]	1	ACVRL1 n = 1	NA
Girerd et al., 2016 [53]	10	ACVRL1 n = 9, ENG n = 1 ***	n = 2
Vorselaars et al., 2017 [54]	2	ACVRL1 n = 2	n = 0
Miyake et al., 2016 ¥ [55]	1	ACVRL1 n = 1	NA
Revuz et al., 2017 [56]	4	ACVRL1 n = 4	Unknown
Li et al., 2018 [57]	9	Unknown n = 9 *	Unknown
Nakamura et al., 2018 ¥ [58]	1	ACVRL1 n = 1	NA

^¥ Case report, * based on Curacao criteria, ** exposure to dexfenfluramine, *** or signs or family history of HHT. NA, not applicable.