Hereditary Hemorrhagic Telangiectasia—A Case Series Experience from a Liver Transplant Center in Romania
Abstract
:1. Introduction
2. Materials and Methods
- Epistaxis (recurrent, spontaneous bleeding episodes with no prior traumatic involvement, night-time nosebleeds).
- Telangiectasis—unevenly distributed on lips, nose, fingers, oral cavity.
- Visceral involvement—AVM in the lungs, brain, liver, stomach, spinal cord.
- A family history of HHT—first-degree relative with a prior diagnosis of HHT.
- None: score 0 or 1;
- Mild: score 1 to 4;
- Moderate: score 4 to 7;
- Severe: score 7 to 10 [12].
3. Results
3.1. Case Series Population
3.2. Clinical Presentation and Lab Testing
4. Discussions
5. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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Patient No | Age | Sex | Curaçao Criteria | Molecular Diagnosis | Bleeding | Hepatic MANIFESTATIONS | Cardiac MANIFESTATIONS | Cerebral CT | Chest CT | Abdominal CT |
---|---|---|---|---|---|---|---|---|---|---|
1 | 47 | F | + | − | + | + | + | + | n/a | + |
2 | 68 | F | + | − | + | + | + | n/a | n/a | + |
3 | 54 | M | + | − | + | − | + | + | n/a | n/a |
4 | 41 | F | − | + | + | − | − | n/a | + | + |
5 | 43 | M | + | − | + | + | − | n/a | + | + |
6 | 74 | F | + | − | − | + | + | + | n/a | + |
7 | 51 | F | + | − | + | − | + | n/a | n/a | n/a |
8 | 42 | F | + | − | − | − | + | + | + | n/a |
9 | 45 | F | + | − | + | + | + | + | + | + |
10 | 49 | F | + | − | + | − | − | n/a | n/a | n/a |
11 | 52 | F | + | − | + | + | − | n/a | + | + |
12 | 64 | F | + | − | + | − | + | n/a | + | + |
13 | 51 | F | + | − | − | + | + | + | + | + |
14 | 40 | F | − | + | + | − | − | n/a | + | + |
Patient No. | Hb (g/dL) | Platelets (/uL × 1000) | Feritin (ng/mL) | INR | GGT (U/L) | ALP (U/L) | AST (IU/L) | ALT (IU/L) | Cholesterol (IU/L) | Creatinine (mg/dL) |
---|---|---|---|---|---|---|---|---|---|---|
1 | 9 | 307 | - | 1.92 | 304 | 259 | 226 | 97 | 187 | 0.99 |
2 | 10 | 211 | - | 1.29 | 156 | 138 | 25 | 15 | 165 | |
3 | 7.5 | 235 | 20.2 | 1.13 | 40 | 76 | 22 | 22 | 198 | 1.15 |
4 | 7.1 | 338 | 3.6 | 1.07 | 20 | 64 | 24 | 28 | 187 | 0.86 |
5 | 15.6 | 303 | 43 | 0.96 | 16 | 68 | 20 | 21 | 198 | 0.97 |
6 | 12.3 | 31 | 85.6 | 1.43 | 450 | 160 | 77 | 29 | 157 | 1.37 |
7 | 11.6 | 300 | 14.3 | 1.12 | 20 | 103 | 27 | 25 | 189 | 1.01 |
8 | 11.1 | 432 | 27.7 | 1.06 | 122 | 219 | 19 | 16 | 176 | 0.74 |
9 | 10.7 | 355 | 6.7 | 1.08 | 39 | 85 | 25 | 30 | 177 | 0.63 |
10 | 12.4 | 182 | 8.5 | 0.96 | 5 | 46 | 19 | 14 | 191 | 0.84 |
11 | 6.8 | 222 | 6 | 1.2 | 208 | 231 | 25 | 22 | 185 | 0.8 |
12 | 5.7 | 126 | 45.9 | 1.75 | 75 | 70 | 22 | 27 | 168 | 0.93 |
13 | 9.7 | 255 | 21 | 0.91 | 39 | 97 | 29 | 40 | 230 | 0.79 |
14 | 11.4 | 381 | 20.2 | 0.97 | 3 | 70 | 24 | 16 | 245 | 0.78 |
Mean | 10.35 | 277.5 | 20.2 | 1.1 | 39.5 | 91.1 | 24.5 | 23.5 | 187.0 | 0.9 |
Range | 7.1–15.6 | 31.000–432.000 | 3.6–85.6 | 0.91–1.75 | 3–450 | 46–259 | 19–226 | 14–97 | 157–245 | 0.63–1.37 |
Patient No. | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | Total |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Hepatomegaly | + | + | + | + | + | + | + | + | + | + | + | + | − | + | 13 |
Splenomegaly | − | − | − | − | − | + | − | − | + | − | + | − | − | − | 3 |
Cirrhotic liver | − | + | + | − | − | − | − | − | − | + | + | + | − | − | 5 |
HA diameter (mm) | + | 14 | 13 | − | − | 12 | 11 | 11 | 10 | 13 | 14 | + | 14 | 10 | Mean −12.2 |
Dilated/tortuous intrahepatic artery branches | + | + | + | − | − | − | − | − | − | + | + | + | − | − | 6 |
HA to HV shunting | + | + | + | + | + | + | − | + | + | − | + | + | + | − | 11 |
HA to PV shunting | + | + | + | − | − | − | − | − | − | − | + | + | − | − | 5 |
PV to PV shunting | − | + | + | − | − | − | − | − | − | − | − | − | − | − | 2 |
Intrahepatic telangiectasis | + | + | + | + | + | + | − | + | + | + | + | + | + | − | 12 |
Splenic artery thrombosis | + | − | + | − | − | − | − | − | + | − | − | − | − | − | 3 |
Heterogenous enhancement on arterial phase | + | + | + | + | + | − | − | + | + | + | + | + | − | − | 10 |
PV enlargement | − | + | + | − | − | + | − | − | + | − | + | + | − | − | 6 |
HV enlargement | + | + | + | + | − | − | − | + | + | + | + | + | − | − | 10 |
Collateral circulation | + | + | − | − | − | − | − | + | + | − | + | − | − | − | 5 |
IHBD dilatations | − | + | + | − | − | + | + | − | − | + | − | − | − | − | 5 |
Biliary cyst | − | − | − | − | − | − | − | + | − | − | − | − | − | − | 1 |
Hemangioma | − | + | + | + | − | + | − | + | + | − | − | − | − | − | 6 |
Nodular hyperplasia | − | + | − | − | − | − | − | − | − | + | − | − | − | − | 2 |
Ascites | − | + | + | + | − | − | − | + | − | + | + | − | − | + | 7 |
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Pavel, C.; Cabel, T.; Dinuță, D.; Zaharia, A.; Dima, S.O.; Sandru, V.; Grasu, M.C.; Mihaila, M. Hereditary Hemorrhagic Telangiectasia—A Case Series Experience from a Liver Transplant Center in Romania. Diagnostics 2022, 12, 2959. https://doi.org/10.3390/diagnostics12122959
Pavel C, Cabel T, Dinuță D, Zaharia A, Dima SO, Sandru V, Grasu MC, Mihaila M. Hereditary Hemorrhagic Telangiectasia—A Case Series Experience from a Liver Transplant Center in Romania. Diagnostics. 2022; 12(12):2959. https://doi.org/10.3390/diagnostics12122959
Chicago/Turabian StylePavel, Christopher, Teodor Cabel, Dragoș Dinuță, Alexandru Zaharia, Simona Olimpia Dima, Vasile Sandru, Mugur Cristian Grasu, and Mariana Mihaila. 2022. "Hereditary Hemorrhagic Telangiectasia—A Case Series Experience from a Liver Transplant Center in Romania" Diagnostics 12, no. 12: 2959. https://doi.org/10.3390/diagnostics12122959
APA StylePavel, C., Cabel, T., Dinuță, D., Zaharia, A., Dima, S. O., Sandru, V., Grasu, M. C., & Mihaila, M. (2022). Hereditary Hemorrhagic Telangiectasia—A Case Series Experience from a Liver Transplant Center in Romania. Diagnostics, 12(12), 2959. https://doi.org/10.3390/diagnostics12122959