Clinical characteristics of hereditary hemorrhagic telangiectasia - case series and review of the literature
Introduction. Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant disorder with estimated prevalence of one in 5,000 to 10,000. The disease has age-related penetrance and the HHT signs and symptoms occur and worsen with age. A diagnosis of HHT is based on the Curacao`s criteria....
Saved in:
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Ministry of Defence of the Republic of Serbia, University of Defence, Belgrade
2019-01-01
|
| Series: | Vojnosanitetski Pregled |
| Subjects: | |
| Online Access: | http://www.doiserbia.nb.rs/img/doi/0042-8450/2019/0042-84501700121P.pdf |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849737519441117184 |
|---|---|
| author | Popović Dragan Sokić-Milutinović Aleksandra Đuranović Srđan Alempijević Tamara Zgradić Sanja Matović Vera Tončev Ljubiša Lukić Snežana |
| author_facet | Popović Dragan Sokić-Milutinović Aleksandra Đuranović Srđan Alempijević Tamara Zgradić Sanja Matović Vera Tončev Ljubiša Lukić Snežana |
| author_sort | Popović Dragan |
| collection | DOAJ |
| description | Introduction. Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant disorder with estimated prevalence of one in 5,000 to 10,000. The disease has age-related penetrance and the HHT signs and symptoms occur and worsen with age. A diagnosis of HHT is based on the Curacao`s criteria. Case report. We report a case series of 6 patients diagnosed with HHT, 5 with definite and one with probable diagnosis according to the Curacao criteria. In 5 patients, the recurrent epistaxis occurred in adolescence as the first presentation while one patient presented with melena. The diagnosis was delayed in 5 patients and the presence of HHT was diagnosed during or after the fifth decade. In 4 patients, the overt gastrointestinal bleeding occurred in the later course of the disease. The asymptomatic pulmonary circulation arteriovenous malformations were detected in 2 patients. The cerebral arteriovenous malformations were not detected. Conclusion. Hereditary hemorrhagic telangiectasia is a rare disorder affecting multiple organs. It should be considered in the adolescents with recurrent epistaxis and in the differential diagnosis of anemia with signs of the gastrointestinal bleeding in order to shorten the delay in the diagnosis and subsequently improve the outcome of the disease. |
| format | Article |
| id | doaj-art-7c5ae3d448994948a6c41aa2056e1e93 |
| institution | DOAJ |
| issn | 0042-8450 2406-0720 |
| language | English |
| publishDate | 2019-01-01 |
| publisher | Ministry of Defence of the Republic of Serbia, University of Defence, Belgrade |
| record_format | Article |
| series | Vojnosanitetski Pregled |
| spelling | doaj-art-7c5ae3d448994948a6c41aa2056e1e932025-08-20T03:06:53ZengMinistry of Defence of the Republic of Serbia, University of Defence, BelgradeVojnosanitetski Pregled0042-84502406-07202019-01-0176445245510.2298/VSP170412121P0042-84501700121PClinical characteristics of hereditary hemorrhagic telangiectasia - case series and review of the literaturePopović Dragan0Sokić-Milutinović Aleksandra1Đuranović Srđan2Alempijević Tamara3Zgradić Sanja4Matović Vera5Tončev Ljubiša6Lukić Snežana7Faculty of Medicine, Belgrade + Clinical Centre of Serbia, Clinic for Gastroenterology and Hepatology, BelgradeFaculty of Medicine, Belgrade + Clinical Centre of Serbia, Clinic for Gastroenterology and Hepatology, BelgradeFaculty of Medicine, Belgrade + Clinical Centre of Serbia, Clinic for Gastroenterology and Hepatology, BelgradeFaculty of Medicine, Belgrade + Clinical Centre of Serbia, Clinic for Gastroenterology and Hepatology, BelgradeClinical Centre of Serbia, Clinic for Gastroenterology and Hepatology, BelgradeClinical Centre of Serbia, Emergency Center, BelgradeClinical Centre of Serbia, Clinic for Gastroenterology and Hepatology, BelgradeFaculty of Medicine, Belgrade + Clinical Centre of Serbia, Clinic for Gastroenterology and Hepatology, BelgradeIntroduction. Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant disorder with estimated prevalence of one in 5,000 to 10,000. The disease has age-related penetrance and the HHT signs and symptoms occur and worsen with age. A diagnosis of HHT is based on the Curacao`s criteria. Case report. We report a case series of 6 patients diagnosed with HHT, 5 with definite and one with probable diagnosis according to the Curacao criteria. In 5 patients, the recurrent epistaxis occurred in adolescence as the first presentation while one patient presented with melena. The diagnosis was delayed in 5 patients and the presence of HHT was diagnosed during or after the fifth decade. In 4 patients, the overt gastrointestinal bleeding occurred in the later course of the disease. The asymptomatic pulmonary circulation arteriovenous malformations were detected in 2 patients. The cerebral arteriovenous malformations were not detected. Conclusion. Hereditary hemorrhagic telangiectasia is a rare disorder affecting multiple organs. It should be considered in the adolescents with recurrent epistaxis and in the differential diagnosis of anemia with signs of the gastrointestinal bleeding in order to shorten the delay in the diagnosis and subsequently improve the outcome of the disease.http://www.doiserbia.nb.rs/img/doi/0042-8450/2019/0042-84501700121P.pdftelangiectasia, herediatary hemorrhagicdiagnosis, differentialhemoptysisdigestive systemhemorrhagearteriovenous malformation |
| spellingShingle | Popović Dragan Sokić-Milutinović Aleksandra Đuranović Srđan Alempijević Tamara Zgradić Sanja Matović Vera Tončev Ljubiša Lukić Snežana Clinical characteristics of hereditary hemorrhagic telangiectasia - case series and review of the literature Vojnosanitetski Pregled telangiectasia, herediatary hemorrhagic diagnosis, differential hemoptysis digestive system hemorrhage arteriovenous malformation |
| title | Clinical characteristics of hereditary hemorrhagic telangiectasia - case series and review of the literature |
| title_full | Clinical characteristics of hereditary hemorrhagic telangiectasia - case series and review of the literature |
| title_fullStr | Clinical characteristics of hereditary hemorrhagic telangiectasia - case series and review of the literature |
| title_full_unstemmed | Clinical characteristics of hereditary hemorrhagic telangiectasia - case series and review of the literature |
| title_short | Clinical characteristics of hereditary hemorrhagic telangiectasia - case series and review of the literature |
| title_sort | clinical characteristics of hereditary hemorrhagic telangiectasia case series and review of the literature |
| topic | telangiectasia, herediatary hemorrhagic diagnosis, differential hemoptysis digestive system hemorrhage arteriovenous malformation |
| url | http://www.doiserbia.nb.rs/img/doi/0042-8450/2019/0042-84501700121P.pdf |
| work_keys_str_mv | AT popovicdragan clinicalcharacteristicsofhereditaryhemorrhagictelangiectasiacaseseriesandreviewoftheliterature AT sokicmilutinovicaleksandra clinicalcharacteristicsofhereditaryhemorrhagictelangiectasiacaseseriesandreviewoftheliterature AT đuranovicsrđan clinicalcharacteristicsofhereditaryhemorrhagictelangiectasiacaseseriesandreviewoftheliterature AT alempijevictamara clinicalcharacteristicsofhereditaryhemorrhagictelangiectasiacaseseriesandreviewoftheliterature AT zgradicsanja clinicalcharacteristicsofhereditaryhemorrhagictelangiectasiacaseseriesandreviewoftheliterature AT matovicvera clinicalcharacteristicsofhereditaryhemorrhagictelangiectasiacaseseriesandreviewoftheliterature AT toncevljubisa clinicalcharacteristicsofhereditaryhemorrhagictelangiectasiacaseseriesandreviewoftheliterature AT lukicsnezana clinicalcharacteristicsofhereditaryhemorrhagictelangiectasiacaseseriesandreviewoftheliterature |