Multiple contemporary arterial dissection in Ehlers-Danlos syndrome type IV
We report a case of multiple spontaneous arteries dissection in a 52-year-old female; the patient had a relevant family history of vascular complications and typical features so we hypothesized vascular Ehlers-Danlos syndrome (EDS) that was confirmed by genetic analysis of <em>COL3A1</em>...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
PAGEPress Publications
2015-03-01
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| Series: | Italian Journal of Medicine |
| Subjects: | |
| Online Access: | http://www.italjmed.org/index.php/ijm/article/view/494 |
| _version_ | 1827611723955175424 |
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| author | Anna Rocci Enrico Paganelli Angelo Rossetti Carla Marcato Davide Martorana Maria Ilaria Tassoni Roberto Quintavalla |
| author_facet | Anna Rocci Enrico Paganelli Angelo Rossetti Carla Marcato Davide Martorana Maria Ilaria Tassoni Roberto Quintavalla |
| author_sort | Anna Rocci |
| collection | DOAJ |
| description | We report a case of multiple spontaneous arteries dissection in a 52-year-old female; the patient had a relevant family history of vascular complications and typical features so we hypothesized vascular Ehlers-Danlos syndrome (EDS) that was confirmed by genetic analysis of <em>COL3A1</em> gene. We adopted a conservative approach: the patient was treated with heparin in the acute phase followed by aspirin and then celiprolol was started on the basis of a recent trial that demonstrates a reduction in arterial events in EDS patient treated. A careful follow-up was done with Doppler ultrasound and computed tomography scan, as non-invasive diagnostic techniques are preferred in these patients, and no other vascular symptomatic events have occurred. We tested all living relatives: half of them had COL3A1 mutation, they were referred to another center specialized in rare diseases and EDS for long-term follow-up and genetic counseling. This case demonstrates as a careful evaluation of clinical signs, clinical history of the patient and his family has allowed a definitive diagnosis, proper management of the patient during the acute event and in terms of prophylaxis of recurrence. |
| first_indexed | 2024-03-09T08:10:49Z |
| format | Article |
| id | doaj.art-b0e4f04433d744f99f8dc2708819846d |
| institution | Directory Open Access Journal |
| issn | 1877-9344 1877-9352 |
| language | English |
| last_indexed | 2024-03-09T08:10:49Z |
| publishDate | 2015-03-01 |
| publisher | PAGEPress Publications |
| record_format | Article |
| series | Italian Journal of Medicine |
| spelling | doaj.art-b0e4f04433d744f99f8dc2708819846d2023-12-02T23:24:55ZengPAGEPress PublicationsItalian Journal of Medicine1877-93441877-93522015-03-0191778110.4081/itjm.2015.494459Multiple contemporary arterial dissection in Ehlers-Danlos syndrome type IVAnna Rocci0Enrico Paganelli1Angelo Rossetti2Carla Marcato3Davide Martorana4Maria Ilaria Tassoni5Roberto Quintavalla6Angiology Unit, Parma University Hospital, ParmaAngiology Unit, Parma University Hospital, ParmaAngiology Unit, Parma University Hospital, ParmaRadiology Unit, Parma University Hospital, ParmaUnit of Medical Genetics, Parma University Hospital, ParmaAngiology Unit, Parma University Hospital, ParmaAngiology Unit, Parma University Hospital, ParmaWe report a case of multiple spontaneous arteries dissection in a 52-year-old female; the patient had a relevant family history of vascular complications and typical features so we hypothesized vascular Ehlers-Danlos syndrome (EDS) that was confirmed by genetic analysis of <em>COL3A1</em> gene. We adopted a conservative approach: the patient was treated with heparin in the acute phase followed by aspirin and then celiprolol was started on the basis of a recent trial that demonstrates a reduction in arterial events in EDS patient treated. A careful follow-up was done with Doppler ultrasound and computed tomography scan, as non-invasive diagnostic techniques are preferred in these patients, and no other vascular symptomatic events have occurred. We tested all living relatives: half of them had COL3A1 mutation, they were referred to another center specialized in rare diseases and EDS for long-term follow-up and genetic counseling. This case demonstrates as a careful evaluation of clinical signs, clinical history of the patient and his family has allowed a definitive diagnosis, proper management of the patient during the acute event and in terms of prophylaxis of recurrence.http://www.italjmed.org/index.php/ijm/article/view/494Ehlers-Danlos syndrome, arterial dissection. |
| spellingShingle | Anna Rocci Enrico Paganelli Angelo Rossetti Carla Marcato Davide Martorana Maria Ilaria Tassoni Roberto Quintavalla Multiple contemporary arterial dissection in Ehlers-Danlos syndrome type IV Italian Journal of Medicine Ehlers-Danlos syndrome, arterial dissection. |
| title | Multiple contemporary arterial dissection in Ehlers-Danlos syndrome type IV |
| title_full | Multiple contemporary arterial dissection in Ehlers-Danlos syndrome type IV |
| title_fullStr | Multiple contemporary arterial dissection in Ehlers-Danlos syndrome type IV |
| title_full_unstemmed | Multiple contemporary arterial dissection in Ehlers-Danlos syndrome type IV |
| title_short | Multiple contemporary arterial dissection in Ehlers-Danlos syndrome type IV |
| title_sort | multiple contemporary arterial dissection in ehlers danlos syndrome type iv |
| topic | Ehlers-Danlos syndrome, arterial dissection. |
| url | http://www.italjmed.org/index.php/ijm/article/view/494 |
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