title: Recurring and generalized visceroptosis in Ehlers-Danlos syndrome hypermobility type.
abstract: Visceroptosis is described in several heritable connective tissue disorders, including the hypermobility type of Ehlers-Danlos syndrome (hEDS), a.k.a. joint hypermobility syndrome (JHS). Clinical features of hEDS comprise joint hypermobility, mild skin hyperextensibility, joint instability complications, chronic joint/limb pain, and positive family history. Uterine and rectal prolapse has been reported in nulliparous women. We report on a family with two patients with hEDS. The proposita, a 38-year-old woman, present bilateral kidney prolapse requiring three nephropexies, gastric ptosis treated with gastropexy and Billroth I gastrectomy, and liver prolapse treated with a non-codified hepatopexy procedure. Radiological evaluation also showed ovarian and heart prolapse. To our knowledge this is the first case of multiple visceral ptoses in hEDS. Visceral prolapse may lead to severe morbidity, affecting quality of life and a high rate of relapses after surgical procedures. Further investigations are needed to understand the molecular basis of the disease and retrospective studies on surgical outcomes, presentation of case series can be effective in order to offer a better treatment and prevention for hEDS patients.
authors.affiliation: Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, Medical Faculty, University of Brescia, Brescia, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Dordoni
authors.forename: Marco
authors.initials: M
authors.lastname: Ritelli
authors.forename: Marina
authors.initials: M
authors.lastname: Venturini
authors.forename: Nicola
authors.initials: N
authors.lastname: Chiarelli
authors.forename: Lidia
authors.initials: L
authors.lastname: Pezzani
authors.forename: Annalisa
authors.initials: A
authors.lastname: Vascellaro
authors.forename: Piergiacomo
authors.initials: P
authors.lastname: Calzavara-Pinton
authors.forename: Marina
authors.initials: M
authors.lastname: Colombi
mesh_terms: D000328:Adult; D000368:Aged; D004535:Ehlers-Danlos Syndrome / Q000150:complications* / Q000601:surgery; D005260:Female; D006801:Humans; D008297:Male; D011379:Prognosis; D012008:Recurrence; D016896:Treatment Outcome; D014782:Visceral Prolapse / Q000150:complications* / Q000601:surgery