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[The Elhers-Danlos syndrome: an insidious pathology. Presentation of a familiary group]
Andrea Giordani1, Gregorio Tugnoli, Salomone di Saverio
1U.O.C Chirurgia d'Urgenza e del Trauma, Ospedale Maggiore, Bologna, Italy.
Insights
Ehlers-Danlos Syndrome (EDS) is a connective tissue disorder. This study highlights its sudden, severe onset of hemorrhage, even in initially healthy individuals, emphasizing the need for early diagnosis and genetic counseling.
Area of Science:
- Genetics
- Vascular Biology
- Connective Tissue Disorders
Background:
- Ehlers-Danlos Syndrome (EDS) is a group of inherited connective tissue disorders.
- Manifestations range from mild to life-threatening, including severe hemorrhage.
Observation:
- Three siblings with vascular type EDS presented with severe, uncontrollable hemorrhage.
- They were initially asymptomatic before symptom onset.
Findings:
- The study details the clinical presentation, characteristics, treatment, and outcomes of vascular EDS.
- Vascular EDS can present late and suddenly, often during emergency surgery for hemorrhagic shock.
Implications:
- Early diagnosis of Ehlers-Danlos Syndrome is crucial.
- Genetic counseling, patient lifestyle, and transmission risks require careful consideration.
Introduction:
Elhers-Danlos Syndrome (EDS) is an hereditary disease of the connective tissue, which may have clinical appearances varying in its severity from subclinical asymptomatic forms up to dramatic uncontrollable haemorrhage.
Materials And Methods:
We have observed three siblings who were carriers of vascular type EDS. They were otherwise healthy at the time of the disease presentation and have become symptomatic since then, developing severe and uncontrollable haemorrhage.
Results:
We have reported the clinical presentation of this syndrome, the clinical and laboratory characteristics, the treatment and the outcome.
Conclusions:
Although the severity of this disease, Elhers-Danlos Syndrome becomes symptomatic lately and suddenly in its course, often during emergency surgery for haemorrhagic shock. Several issues are raised such as the possibility for early diagnosis of this disease, the psychological features of a genetic counseling, the need for the patients to have adequate lifestyle and last but not least the risk of genetic transmission of the disease.
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