[Rare syndromes in intensive care medicine : Presentation of two cases].
This article presents two cases of young women with spontaneous life-threatening bleeding events. Both had a history of gastrointestinal rupture or arterial dissection. Based on their medical history and genetic testing, Ehlers-Danlos syndrome (EDS) IV (vascular type) was diagnosed. In this very rare disorder which accounts for only 5 % of all EDS cases, fibroblasts synthesize reduced and abnormal procollagen type III. This is caused by mutations in the COL3A1 gene coding for type III procollagen. Life expectancy in these patients is significantly reduced. In many cases spontaneous arterial ruptures or dissections and organ ruptures are the first manifestations of this disease. More than 80 % of patients with EDS IV suffer from a severe complication before 40 years of age. Treatment options are very limited. Most important is to avoid invasive procedures (open surgery as well as endovascular interventions) because of its high morbidity and mortality. Celiprolol, a cardioselective β‑blocker, seems to have a beneficial effect by reducing the incidence of vascular complications.
Abteilung Interne II - Kardiologie, Krankenhaus der Barmherzigen Schwestern Linz, Seilerstätte 4, 4010, Linz, Österreich. antonia.gierlinger@bhs.at.
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A
Gierlinger
Abteilung Interne II - Kardiologie, Krankenhaus der Barmherzigen Schwestern Linz, Seilerstätte 4, 4010, Linz, Österreich.
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Siostrzonek
Abteilung Interne II - Kardiologie, Krankenhaus der Barmherzigen Schwestern Linz, Seilerstätte 4, 4010, Linz, Österreich.
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Reisinger
D000328:Adult; D000784:Aortic Dissection / Q000175:diagnosis* / Q000473:pathology; D017541:Aneurysm, False / Q000175:diagnosis* / Q000473:pathology; D001706:Biopsy; D041221:Candida glabrata; D002177:Candidiasis / Q000175:diagnosis* / Q000473:pathology; D003937:Diagnosis, Differential; D004535:Ehlers-Danlos Syndrome / Q000175:diagnosis* / Q000473:pathology; D004927:Escherichia coli Infections / Q000175:diagnosis* / Q000473:pathology; D017809:Fatal Outcome; D005260:Female; D006470:Hemorrhage / Q000209:etiology* / Q000473:pathology; D006499:Hepatic Artery / Q000473:pathology; D006801:Humans; D007362:Intensive Care Units; D035583:Rare Diseases; D012077:Renal Artery / Q000473:pathology; D018805:Sepsis / Q000175:diagnosis* / Q000473:pathology; D013699:Temporal Arteries / Q000473:pathology
COL3A1 protein, human; Celiprolol; Ehlers–Danlos syndrome; Rupture, spontaneous; Vascular diseases