| 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
- c5Â 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