Hereditary Hemorrhagic Telangiectasia in a Sudanese Patient
Background. Hereditary hemorrhagic telangiectasia (HHT) also known as Osler–Weber–Rendu syndrome is a rare autosomal dominant disorder, which results in vascular dysplasia affecting mainly visceral and mucocutaneous organs. Case Presentation. A 65-year-old woman with a 12-year history of recurrent s...
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| Language: | English |
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Wiley
2020-01-01
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| Series: | Case Reports in Medicine |
| Online Access: | http://dx.doi.org/10.1155/2020/6395629 |
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| author | Omer Ali Mohamed Ahmed Elawad Ahmed Abdalazim Dafallah Albashir Mohammed Mahgoub Mirghani Ahmed Ahmed Ali Mohamed Ahmed Elawad Osman Eltieb Elbasheer Mohamed |
| author_facet | Omer Ali Mohamed Ahmed Elawad Ahmed Abdalazim Dafallah Albashir Mohammed Mahgoub Mirghani Ahmed Ahmed Ali Mohamed Ahmed Elawad Osman Eltieb Elbasheer Mohamed |
| author_sort | Omer Ali Mohamed Ahmed Elawad |
| collection | DOAJ |
| description | Background. Hereditary hemorrhagic telangiectasia (HHT) also known as Osler–Weber–Rendu syndrome is a rare autosomal dominant disorder, which results in vascular dysplasia affecting mainly visceral and mucocutaneous organs. Case Presentation. A 65-year-old woman with a 12-year history of recurrent spontaneous epistaxis presented with shortness of breath, easy fatigability, and bilateral lower limb edema. Her family history was significant for definite hereditary hemorrhagic telangiectasia in first-degree relatives. During the previous 15 days, she has experienced three episodes of recurrent nasal bleeding. She has a background of chronic mitral regurgitation. Physical examination revealed telangiectases in her tongue, lower lip, and hand in addition to signs of congestive heart failure. The patient met 3\4 Curacao criteria and had a definite HHT. Her laboratory workup revealed a hemoglobin count of 5.4 g/dl. Echocardiography revealed a left systolic ejection fraction of 51% with left atrial dilatation and severe mitral regurgitation. Chest X-ray showed features of cardiomegaly and pulmonary edema. The abdominal ultrasonography showed enlarged liver size with homogenous texture and congested hepatic veins without features of hepatic AVMs. She was treated with intravenous frusemide, iron supplement, tranexamic acid, blood transfusion, and nasal packing. Conclusions. HTT usually passes unnoticed in Sudan. The rarity of HHT, difficulties in affording diagnostic imaging studies, and low clinical suspicion among doctors are important contributing factors. Anemia resulting from recurrent epistaxis might have an influential role in precipitating acute heart failure in those with chronic rheumatic valvular disease. |
| format | Article |
| id | doaj-art-986993008b04459caf54e5864de65fd9 |
| institution | Kabale University |
| issn | 1687-9627 1687-9635 |
| language | English |
| publishDate | 2020-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Medicine |
| spelling | doaj-art-986993008b04459caf54e5864de65fd92025-02-03T01:28:08ZengWileyCase Reports in Medicine1687-96271687-96352020-01-01202010.1155/2020/63956296395629Hereditary Hemorrhagic Telangiectasia in a Sudanese PatientOmer Ali Mohamed Ahmed Elawad0Ahmed Abdalazim Dafallah Albashir1Mohammed Mahgoub Mirghani Ahmed2Ahmed Ali Mohamed Ahmed Elawad3Osman Eltieb Elbasheer Mohamed4Wad Medani Teaching Hospital, Wad Medani, SudanWad Medani Teaching Hospital, Wad Medani, SudanWad Medani Teaching Hospital, Wad Medani, SudanWad Medani Teaching Hospital, Wad Medani, SudanWad Medani Teaching Hospital, Wad Medani, SudanBackground. Hereditary hemorrhagic telangiectasia (HHT) also known as Osler–Weber–Rendu syndrome is a rare autosomal dominant disorder, which results in vascular dysplasia affecting mainly visceral and mucocutaneous organs. Case Presentation. A 65-year-old woman with a 12-year history of recurrent spontaneous epistaxis presented with shortness of breath, easy fatigability, and bilateral lower limb edema. Her family history was significant for definite hereditary hemorrhagic telangiectasia in first-degree relatives. During the previous 15 days, she has experienced three episodes of recurrent nasal bleeding. She has a background of chronic mitral regurgitation. Physical examination revealed telangiectases in her tongue, lower lip, and hand in addition to signs of congestive heart failure. The patient met 3\4 Curacao criteria and had a definite HHT. Her laboratory workup revealed a hemoglobin count of 5.4 g/dl. Echocardiography revealed a left systolic ejection fraction of 51% with left atrial dilatation and severe mitral regurgitation. Chest X-ray showed features of cardiomegaly and pulmonary edema. The abdominal ultrasonography showed enlarged liver size with homogenous texture and congested hepatic veins without features of hepatic AVMs. She was treated with intravenous frusemide, iron supplement, tranexamic acid, blood transfusion, and nasal packing. Conclusions. HTT usually passes unnoticed in Sudan. The rarity of HHT, difficulties in affording diagnostic imaging studies, and low clinical suspicion among doctors are important contributing factors. Anemia resulting from recurrent epistaxis might have an influential role in precipitating acute heart failure in those with chronic rheumatic valvular disease.http://dx.doi.org/10.1155/2020/6395629 |
| spellingShingle | Omer Ali Mohamed Ahmed Elawad Ahmed Abdalazim Dafallah Albashir Mohammed Mahgoub Mirghani Ahmed Ahmed Ali Mohamed Ahmed Elawad Osman Eltieb Elbasheer Mohamed Hereditary Hemorrhagic Telangiectasia in a Sudanese Patient Case Reports in Medicine |
| title | Hereditary Hemorrhagic Telangiectasia in a Sudanese Patient |
| title_full | Hereditary Hemorrhagic Telangiectasia in a Sudanese Patient |
| title_fullStr | Hereditary Hemorrhagic Telangiectasia in a Sudanese Patient |
| title_full_unstemmed | Hereditary Hemorrhagic Telangiectasia in a Sudanese Patient |
| title_short | Hereditary Hemorrhagic Telangiectasia in a Sudanese Patient |
| title_sort | hereditary hemorrhagic telangiectasia in a sudanese patient |
| url | http://dx.doi.org/10.1155/2020/6395629 |
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