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Spine deformities in patients with Ehlers-Danlos syndrome, type IV - late results of surgical treatment.

ABSTRACT: BACKGROUND: Spinal deformities in Ehlers-Danlos syndrome are usually progressive and may require operative treatment. There is limited number of studies describing late results of surgery in this disease. METHODS: This is a retrospective study of the records of 11 patients with Ehlers-Danlos syndrome type IV, treated surgically between 1990 and 2007. All patients underwent surgical treatment for spinal deformity. Duration of operation, type of instrumentation, intraoperative blood loss, complications and number of additional surgeries were noted. Radiographic measurement was performed on standing AP and lateral radiographs acquired before surgery, just after and at final follow up. RESULTS: The mean follow up period was 5.5 ± 2.9 years (range 1-10 years). The mean preoperative thoracic and lumbar curve were 109.5 ± 19.9° (range 83° - 142°) and 75.6 ± 26.7° (range 40° - 108°) respectively. Posterior spine fusion alone was performed on 6 patients and combined anterior and posterior fusion (one- or two stage) on 5 cases. Posterior segmental spinal instrumentation was applied with use of hooks, screws and wires. The mean postoperative thoracic and lumbar curve improved to 79.3 ± 16.1° (range 56° - 105°) and 58.5 ± 27.7° (range 10° - 95°) respectively, with a slight loss of correction during follow up. The average thoracic and lumbar correction was 26.4 ± 14.9% (range 5.3 - 50.4%) and 26.3 ± 21.2% (range 7.9 - 75%). Postoperatively, the mean kyphosis was 79.5 ± 40.3° (range 21° -170°), and lordosis was 50.8 ± 18.6° (range 20° -79°). Hyperkyphosis increased during follow up while lordosis remained stable. Mean Th12-L2 angle was -3.5 ±9.9° (range -19° - 15°) postoperatively and did not change significantly during follow up. CONCLUSIONS: Huge spinal deformities in patients with Ehlers-Danlos syndrome require complex and extensive surgery. There is a big risk of sagittal imbalance in this group.

SUBMITTER: Jasiewicz B

PROVIDER: S-EPMC3004829 | biostudies-other | 2010

REPOSITORIES: biostudies-other

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Spine deformities in patients with Ehlers-Danlos syndrome, type IV - late results of surgical treatment.

Jasiewicz Barbara B Potaczek Tomasz T Tesiorowski Maciej M Lokas Krzysztof K

Scoliosis 20101125

<h4>Background</h4>Spinal deformities in Ehlers-Danlos syndrome are usually progressive and may require operative treatment. There is limited number of studies describing late results of surgery in this disease.<h4>Methods</h4>This is a retrospective study of the records of 11 patients with Ehlers-Danlos syndrome type IV, treated surgically between 1990 and 2007. All patients underwent surgical treatment for spinal deformity. Duration of operation, type of instrumentation, intraoperative blood l ...[more]

PMID: 21108838

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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.

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Spine deformities in patients with Ehlers-Danlos syndrome, type IV - late results of surgical treatment.

Publications

Spine deformities in patients with Ehlers-Danlos syndrome, type IV - late results of surgical treatment.

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