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Total colectomy in Vascular Ehlers Danlos syndrome a case report and literature review

ABSTRACT:

Introduction

Ehlers Danlos syndromes (EDS) are a group of genetic disorders, characterized by skin hyperelasticity, joint hyperlaxity and tissue weakness. Vascular EDS is rare and is differs from other types of EDS by an inconsistent acrogenic morphotype and the occurrence of severe digestive and vascular complications, which can be lifethreatening.

Case presentation

We report the case of a 27-year-old man with a type IV vascular Ehlers-Danlos syndrome revealed by a colonic perforation after appendectomy for peritonitis secondary to appendicitis. The etiology of the perforation remained a challenge till a genetic research was carried out for COL3A1 gene mutation, which was positive in favor of vascular Ehlers Danlos disease. Then, a totalization of the colectomy with ileorectal anastomosis was performed.

Discussion

Vascular Ehlers Danlos syndrome (VEDS) is due to qualitative and quantitative abnormalities in the synthesis of type III collagen, which is a major constituent of the vessel wall, skin, joint capsules, uterus and gastrointestinal tract, particularly the colon. Colonic perforation, particularly sigmoidal perforation, is the most frequent complication in SEDV and most often precedes the molecular diagnosis. Colonic perforations are uncommon. The Hartmann procedure is a well-established surgical treatment modality, especially for emergency surgery. Given the iterative risk of colonic perforation and anastomotic leakage, preventive treatment by total colectomy with ileo-rectal anastomosis or definitive ileostomy is recommended by several authors.

Conclusion

SEDV is a rare pathology with a difficult diagnosis. However, it should be keeped in mind when there is any spontaneous colonic perforation in the young people. Highlights • Ehlers danlos syndromes are a group of genetic disorders of the connective tissue.• Life expectancy is reduced due to spontaneous vascular rupture or colonic perforation.• Colonic perforations are uncommon. They occur in the context of diverticulitis in adults.• The diagnosis is difficult because of the rarity of the pathology and the inaccessibility of genetic tests.• The surgical management of colonic perforations in ehlers danlos syndromes is not codified.

SUBMITTER: Elhattabi K

PROVIDER: S-EPMC8577335 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:The vascular type of Ehlers-Danlos syndrome (EDS), EDS type IV (Online Mendelian Inheritance in Man [MIM] #130050) is characterized by thin, translucent skin, easy bruising, and arterial, intestinal, and/or uterine fragility during pregnancy, which may lead to sudden death. It is an autosomal dominant inherited disorder caused by type III procollagen gene (COL3A1: MIM #120180) mutations. Approximately 50% of the COL3A1 mutations are inherited from an affected parent, and 50% are de novo mutations. Each child of an affected individual has a 50% chance of inheriting the mutation and developing the disorder. Pregnant women with vascular EDS are at an increased risk of uterine and arterial rupture during the peripartum period, with high maternal morbidity and mortality rates. We report the first case of an asymptomatic 35-year-old woman at a risk of complications of vascular EDS who underwent presymptomatic evaluation during pregnancy. The sequencing results of both her brother and mother had a one-base-pair deletion, resulting in Glutamate at position 730 changing to Lysine and causing a frame shift and premature termination codon at 61 amino acids from the mutation position (p. Glu730Lysfs*61) on exon 32 of COL3A1. This deletion caused frameshift, leading to a premature termination codon (TAG) at 181 nucleotides downstream in exon 35, which could not be detected by previous total RNA (ribonucleic acid) method. Thus, she was at risk of complications of vascular EDS, and diagnostic testing was employed at 8 weeks of pregnancy to minimize the risk of developing vascular EDS-related complications. The negative presymptomatic diagnostic result allowed the patient to choose normal delivery at term. Vascular EDS is a serious disorder, with high mortality, especially in high-risk women with vascular EDS during pregnancy. The presymptomatic genetic testing of vascular EDS during pregnancy for a high-risk family can help with the early establishment of preventive measures.

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.