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Recurring and Generalized Visceroptosis in Ehlers– D anlos Syndrome Hypermobility Type
Author(s) -
Dordoni Chiara,
Ritelli Marco,
Venturini Marina,
Chiarelli Nicola,
Pezzani Lidia,
Vascellaro Annalisa,
CalzavaraPinton Piergiacomo,
Colombi Marina
Publication year - 2013
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35825
Subject(s) - joint hypermobility , hypermobility (travel) , medicine , connective tissue disorder , ehlers–danlos syndrome , surgery , physical therapy
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. © 2013 Wiley Periodicals, Inc.