Table 1.
Patient | Gender | Gene | Type | AVMS | HHT-ESS | Age | Symptoms | Hospital |
---|---|---|---|---|---|---|---|---|
#1 | ♀ | ENG | HHT1 | HAVM | 0.91 | 37 | asymptomatic | - |
#2 | ♂ | ENG | HHT1 | PAVM, HAVM |
1.41 α | 74 | asymptomatic | - |
#3 | ♀ | ALK1 | HHT2 | HAVM | 1.01 | 57 | headache, diarrhea | - |
#4 | ♂ | ALK1 | HHT2 | HAVM | 1.91 | 64 | headache, diarrhea, myalgias | - |
#5 | ♂ | ENG | HHT1 | PAVM, HAVM |
0.51 | 70 | cough, shortness of breath | - |
#6 | ♂ | ALK1 | HHT2 | HAVM | 7.46 ε | 63 | suspected diarrhea, serologic detection months later | - |
#7 | ♀ | ALK1 | HHT2 | HAVM | 3.51 | 63 | myalgias, headache, nosebleed, diarrhea | - |
#8 | ♂ | ALK1 | HHT2 | - | 0.0 | 29 | asymptomatic | - |
#9 | ♀ | ENG | HHT1 | PAVM, CAVM, HAVM |
1.41 | 32 | asymptomatic | - |
#10 | ♀ | ALK1 | HHT2 | PAVM, HAVM |
2.43 | 47 | pneumonia, cough, dyspnea | YES |
#11 | ♀ | ALK1 | HHT2 | HAVM | 1.41 | 56 | asymptomatic | - |
#12 | ♀ | ENG | HHT1 | PAVM, HAVM |
1.41 | 62 | asymptomatic | - |
#13 | ♀ | ALK1 | HHT2 | HAVM | 3.33 | 70 | asymptomatic | - |
#14 | ♀ | ALK1 | HHT2 | HAVM | 5.18 γ | 87 | pneumonia, anemia | YES |
#15 | ♂ | ALK1 | HHT2 | HAVM | 0.0 | 55 | headache, diarrhea | - |
#16 | ♀ | ALK1 | HHT2 | - | 0.0 | 25 | anosmia, headache | - |
#17 | ♀ | ALK1 | HHT2 | PAVM, HAVM | 3.33 | 50 | anosmia, headache, diarrhea | - |
#18 | ♀ | ENG | HHT1 | PAVM, HAVM | 3.33 | 52 | pneumonia, no dyspnea | YES |
#19 | ♀ | ENG | HHT1 | PAVM, SpAVM | 0.0 | 16 | asymptomatic | - |
#20 | ♀ | ENG | HHT1 | HAVM | 2.43 Δ | 49 | anosmia, ageusia, moderate fever and slight muscular pain, diarrhea |
- |
#21 | ♂ | ALK1 | HHT2 | - | 0.0 | 41 | anosmia, ageusia, moderate fever and slight muscular pain |
- |
#22 | ♂ | ALK1 | HHT2 | - | 0.0 | 18 | infected twice, rhinitis | - |
#23 | ♀ | ALK1 | HHT2 | HAVM | 0.51 | 50 | tonsil and ear infections, cough, fever, pain in the chest, and low oxygen saturation (91%) | - |
#24 | ♀ | ALK1 | HHT2 | - | 0.0 | 16 | fever, vomit, tiredness and breathless | - |
#25 | ♂ | ALK1 | HHT2 | HAVM | 0.0 | 63 | anosmia, headache | - |
α #2 at the beginning, need transfusions; in the last year, no need of transfusions. ε #6 dependent on transfusions before Young’s procedure. Reopening of Young’s in the last year, bleeding but no need of transfusions yet. γ #14 chronic anemia, needed transfusion upon hospitalization. Δ #20, treated with low dose of tacrolimus and sclerotherapy. Before, she was transfusion-dependent.