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Gynecologic and surgical complications in type IV Ehlers-Danlos syndrome.

ABSTRACT: BACKGROUND:Although type IV Ehlers-Danlos syndrome is a rare condition, it is critical that physicians be aware of this disease because it presents unique management challenges. CASE:We present a young woman who was admitted with a pelvic abscess after having a miscarriage and an appendiceal perforation. She had an exploratory laparotomy secondary to a persistent pelvic abscess and endured multiple postoperative complications. Based on her family history and physical characteristics, type IV Ehlers-Danlos syndrome was diagnosed. CONCLUSION:The decision to proceed with surgery should be weighed against tissue fragility in patients with type IV Ehlers-Danlos syndrome. A conservative, multidisciplinary team approach addresses whether to proceed with surgery and minimize postoperative complications if surgery is performed.

SUBMITTER: Wheeler SM

PROVIDER: S-EPMC6596992 | biostudies-literature | 2014 Feb

REPOSITORIES: biostudies-literature

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Gynecologic and surgical complications in type IV Ehlers-Danlos syndrome.

Wheeler Sarahn M SM Russo Melissa M Wilson-Murphy Molly M Shen Wen W

Obstetrics and gynecology 20140201 2 Pt 2 Suppl 2

<h4>Background</h4>Although type IV Ehlers-Danlos syndrome is a rare condition, it is critical that physicians be aware of this disease because it presents unique management challenges.<h4>Case</h4>We present a young woman who was admitted with a pelvic abscess after having a miscarriage and an appendiceal perforation. She had an exploratory laparotomy secondary to a persistent pelvic abscess and endured multiple postoperative complications. Based on her family history and physical characteristi ...[more]

PMID: 24413228

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Project description:Ehlers-Danlos syndrome type IV, the vascular type of Ehlers-Danlos syndromes (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS. The estimated prevalence for all EDS varies between 1/10,000 and 1/25,000, EDS type IV representing approximately 5 to 10% of cases. The vascular complications may affect all anatomical areas, with a tendency toward arteries of large and medium diameter. Dissections of the vertebral arteries and the carotids in their extra- and intra-cranial segments (carotid-cavernous fistulae) are typical. There is a high risk of recurrent colonic perforations. Pregnancy increases the likelihood of a uterine or vascular rupture. EDS type IV is inherited as an autosomal dominant trait that is caused by mutations in the COL3A1 gene coding for type III procollagen. Diagnosis is based on clinical signs, non-invasive imaging, and the identification of a mutation of the COL3A1 gene. In childhood, coagulation disorders and Silverman's syndrome are the main differential diagnoses; in adulthood, the differential diagnosis includes other Ehlers-Danlos syndromes, Marfan syndrome and Loeys-Dietz syndrome. Prenatal diagnosis can be considered in families where the mutation is known. Choriocentesis or amniocentesis, however, may entail risk for the pregnant woman. In the absence of specific treatment for EDS type IV, medical intervention should be focused on symptomatic treatment and prophylactic measures. Arterial, digestive or uterine complications require immediate hospitalisation, observation in an intensive care unit. Invasive imaging techniques are contraindicated. Conservative approach is usually recommended when caring for a vascular complication in a patient suffering from EDS type IV. Surgery may, however, be required urgently to treat potentially fatal complications.

Dataset Information

Gynecologic and surgical complications in type IV Ehlers-Danlos syndrome.

Publications

Gynecologic and surgical complications in type IV Ehlers-Danlos syndrome.

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