Ehlers-Danlos syndrome type IV in association with a (c.970G>A) mutation in the COL3A1 gene.
The Ehlers-Danlos syndrome type IV (EDS-IV) is a hereditary, autosomal dominant disease that causes a defect in the procollagen III synthesis, which results in a structural modification in this protein. An awareness of the disease is of vital importance for the optimal outcome, since the affected individuals have a high risk of vascular, intestinal and uterine rupture. It's a disease with great clinical variability and the diagnosis is confirmed by detection of a mutation in the gene encoding collagen type III. The authors present a case report of a patient who appeared at the emergency ward with acute abdomen and hypovolemic shock after spontaneous aortic rupture. The diagnosis was confirmed after genetic study that identified a mutation in the (c.970G>A) in the COL3A1 gene, only reported once in the literature in a family with internal carotid dissections in some of its members. It's the first time that this mutation is reported in association with the EDS-IV. The authors also make a brief review of the clinical, genetic and molecular characteristics of this syndrome.
Department of Internal Medicine, University Hospital of Coimbra, Coimbra, Portugal.
Marta
M
Rebelo
Leonor
L
Ramos
Jandira
J
Lima
J Diniz
JD
Vieira
Purificação
P
Tavares
Luísa
L
Teixeira
Albuquerque
A
Matos
J Nascimento
JN
Costa
D000328:Adult; D024061:Collagen Type III / Q000235:genetics*; D004535:Ehlers-Danlos Syndrome / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D009154:Mutation
C439971:COL3A1 protein, human; D024061:Collagen Type III