Spine deformities in patients with Ehlers-Danlos syndrome, type IV - late results of surgical treatment
© Jasiewicz et al; licensee BioMed Central Ltd. 2010
Received: 19 April 2010
Accepted: 25 November 2010
Published: 25 November 2010
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.
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.
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.
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.
Ehlers-Danlos syndrome is a group of different inherited diseases caused by various defects of collagen metabolism . It is characterized by joint hypermobility and joint laxity. From the description of the first patient by van Meckeren in 1682, it had to pass over 200 years until Ehlers and Danlos published their works and disease called from their names was identified. Current classification consists of 6 types with different genetic abnormalities and various clinical manifestations . Kyphoscoliotic type (type IV) with the deficiency of lysyl hydroxylase, a collagen modifying enzyme, is of the most interest to orthopedists. Patients suffer from generalized joint laxity, muscle hypotonia at birth, progressive scoliosis and fragility of sclera with risk of ocular globe rupture. Spinal deformity, which typically involves both thoracic and lumbar spine, occurs as scoliosis or kyphoscoliosis and is visible just after birth . Curve progression is rapid and operative treatment is often indicated, however, surgery is not such a simple procedure as in idiopathic scoliosis [4, 5].
Surgery is much more difficult due to stiff deformity and is connected with significant risk of serious complications [5, 6]. That is why individual approach to the treatment of these patients may be advisable. However, there are limited number of studies describing late results of operative treatment in patients with Ehlers Danlos syndrome.
The objective of this study was retrospective analysis of spinal deformities in patients with Ehlers Danlos syndrome. In addition we evaluated late results of operative treatment.
This is a retrospective study of the records of patients with Ehlers Danlos syndrome type IV, treated surgically between 1990 and 2007. Material consists of 11 patients: 5 females and 6 males. The mean age at the onset of deformity was 1.6 ± 0.9 years (range 1-2.5years).
All patients had plano-valgus feet, treated operatively in 2 cases. Pectus excavatum was observed in 6 cases, pectus carinatum - in 1 case. Two patients underwent surgical correction of chest deformity. Scoliosis was present in all cases, in all but two it was kyphoscoliosis. Lenke classification was used to categorize the curve types, so type 1 was present in 7 cases, type 3 - in 3 cases and type 5 - in 1 case.
All patients underwent surgical treatment for spinal deformity.
We reviewed preoperative, intraoperative and postoperative records of all patients and noted duration of operation, type of instrumentation, intraoperative blood loss, complications and number of additional surgeries.
Radiographic measurement was performed on standing AP and lateral radiographs acquired before surgery, just after and at final follow up. Preoperative coronal curve flexibility was assessed with use of elongation radiographs. We analyzed: structural curve magnitude according to Cobb, apical vertebral translation (AVT), distance between Th1 and central sacral line (Th1-CSL), trunk shift, thoracic kyphosis and lumbar lordosis, and Th12-L2 angle.
Due to a small number of patients only basic statistical analysis was performed, data are presented as proportions (%) or as mean with standard deviations and range.
All patients underwent last clinical and radiographic examination after puberty. The mean follow up period was 5.5 ± 2.9 years (range 1-10 years) and mean age at latest examination was 19.3 ± 3.9 years (range 14.2-24.8 years).
Before spine fusion
The mean age at the first radiogram (available for authors) was 7 ± 5 years (range 2-15 years). The mean Cobb angle of the thoracic curve was 76.3 ± 37.5° (range 11° -142°) and mean angle of the lumbar curve was 60.9 ± 24,2° (range 38° -108°). All patients underwent various non-effective conservative treatment: different exercises and braces (outside our hospital). Spine correction without fusion according to Moe was applied in 5 cases. These patients underwent 3-6 operations with additional distraction before the main surgery.
The mean age at the time of spine fusion was 13.8 ± 3 years (range 7-18 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. Preoperative flexibility of scoliosis curve was smaller in thoracic than in lumbar region and equaled 22.0 ± 11.6% (range 2.5 - 42.3%) and 27.2 ± 5.2% (range 18 - 32%) respectively. The mean apical vertebral rotation was 76.8 ± 34.2 mm (range 18 - 140 mm) in thoracic spine, and 25.5 ± 15.4 mm (range 0 - 43 mm) in lumbar spine.
The mean absolute value of the distance Th1-CSL was 15 ± 12.4 mm (range 0 - 37). The mean preoperative trunk shift was 17.0 ± 19.0 mm (range -20 - 45 mm). Preoperative thoracic kyphosis and lumbar lordosis were 89.1 ± 31.2° (range 32° - 150°) and 55.9 ± 17.3° (20° - 78°) respectively. The value of the Th12-L2 angle varied significantly, with mean preoperative angle 2.6 ± 23.2° (range -36° - 40°).
We performed posterior spine fusion alone on 6 patients and combined anterior and posterior fusion (one- or two stage) on 5 cases. Additionally, at the same time thoracoplasty was carried out to improve rib hump in 2 cases. Posterior segmental spinal instrumentation was applied in all cases, with use of hooks, pedicular screws, sublaminar or translaminar wires - depending on technical possibilities and when patients were operated on. The mean operation time was 4.2 ± 2.6 hours (range 2.5 - 6 hours). Number of fused vertebra was 11.4 ± 2.6 (range 6 - 14) on average. The mean blood loss was 818 ± 520 ml (range 200 - 1800 ml). There were no intraoperative complications.
During the follow up 4 patients underwent reoperations due to increasing imbalance, instrumentation failure - primary causes were pseudoarthroses in the fused area. Costoplasty improving trunk shape was performed in 2 patients during the follow up.
Coronal balance data before and after treatment
After follow up
76.8 ± 32.5 mm
(range 18-140 mm)
62.5 ± 29.3 mm
(range 21-120 mm)
59.4 ± 17.2 mm
(range 35- 82 mm)
25.5 ± 15.4 mm
(range 0-43 mm)
30.4 ± 18.7 mm
(range 3- 63 mm)
33.9 ± 21.7 mm
(range 0- 64 mm)
Absolute Th1-CSL value
15 ± 13.1 mm
(range 0-37 mm)
32 ± 18.4 mm
(range 5-60 mm)
27 ± 21.8 mm
(range 3-60 mm)
17.0 ± 20.5 mm
(range -20-45 mm)
8.8 ± 18.3 mm
(range -20 - 30 mm)
19.3 ± 15.2 mm
(range 0 - 45 mm)
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.
Each author certifies that he has no commercial associations (e.g. consultancies, stock ownership, equity interests, patent/licensing arrangements, etc) that might pose a conflict of interest in connection with the submitted article. All authors give their consent to publish this study and accompanying data.
Study was performed as a part of Research Project No NN 518412936, Polish State Committee for Scientific Research.
- Giunta C, Superti-Furga A, Spranger S, Cole WG, Steinmann B: Ehlers-Danlos syndrome type VII: clinical features and molecular defects. J Bone Joint Surg Am. 1999, 81 (2): 225-38.PubMedGoogle Scholar
- Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ: Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos support group (UK). Am J Med Genet. 1998, 77 (1): 31-7. 10.1002/(SICI)1096-8628(19980428)77:1<31::AID-AJMG8>3.0.CO;2-O.View ArticlePubMedGoogle Scholar
- Beighton P, Horan FT: Orthopaedic aspects of the Ehlers-Danlos syndrome. J Bone Joint Surg Br. 1969, 51 (3): 444-53.PubMedGoogle Scholar
- McMaster MJ: Spinal deformity in Ehlers-Danlos Syndrome. Five patients treated by spinal fusion. J Bone Joint Surg Br. 1994, 76 (5): 773-777.PubMedGoogle Scholar
- Vogel LC, Lubicky JP: Neurologic and vascular complications of the scoliosis surgery in patients with Ehlers-Danlos syndrome. A case report. Spine. 1996, 21 (21): 2508-2514.PubMedGoogle Scholar
- Debnath UK, Sharma H, Roberts D, Kumar N, Ahuja S: Coeliac axis thrombosis after surgical correction of spinal deformity in the type VI Ehlers-Danlos syndrome: a case report and review of the literature. Spine. 2007, 32 (18): E528-31. 10.1097/BRS.0b013e31813162b3.View ArticlePubMedGoogle Scholar
- Akpinar S, Gogus A, Talu U, Hamzaoglu A, Dikici F: Surgical management of the spinal deformity in Ehlers-Danlos syndrome type VI. Eur Spine J. 2003, 12 (2): 135-40.PubMedGoogle Scholar
- Yang JS, Sponseller PD, Muharrem Yazici, Johnston CE: Vascular complications from anterior spine surgery in three patients with Ehlers-Danlos Syndrome. Spine. 2009, 34 (4): E153-157. 10.1097/BRS.0b013e31818d58da.View ArticlePubMedGoogle Scholar
- Pozdnikin IuI, Ryzhakov IuP: [Kypho-scoliotic deformities of the spine in children and adolescents with Ehlers-Danlos syndrome and their treatment]. Ortop Travmatol Protez. 1990, 5-10. 11
This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (<url>http://creativecommons.org/licenses/by/2.0</url>), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.