Table 1.

Baseline characteristics

	Patient 1a	Patient 2a	Patient 3
Age (years)	65	80	66
Sex	Female	Female	Female
HHT-type	2	2	VUSd
Gene mutation	ACVLR-1-c.1022A>T	ACVLR-1-c.1022A>T	ACVLR-1-c.941A>Cb
Height (cm)	161	163	160
Weight (kg)	53	60	47
Body Mass Index	21	23	18
PAVM	Yesc	No	No
GI-AVM	Yes	Yes	No
Epistaxis	Yes, mild	Yes, mild	Yes, severe

^aPatients are related

^bNot formerly known to be pathogenic

^c5 cm in diameter, embolized in 2009

^dHaving a variant of unknown significance in the ACVRL1 gene, means that we found a mutation but we do not know if it is a disease causing mutation or just a polymorphic variant. The conclusion for this patient is that the patient has HHT based on the clinical Curaçao criteria, but we cannot say for sure she has HHT type two

ACVLR-1 activin receptor-like kinase 1, VUS variance of unknown significance, PAVM pulmonary arteriovenous malformation, GI-AVM gastrointestinal-AVM