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Clinical study of hereditary disorders of connective tissues in a Chilean population: joint hypermobility syndrome and vascular Ehlers-Danlos syndrome.
Arthritis Rheum 2006; 54(2):515-23AR

Abstract

OBJECTIVE

To demonstrate the high frequency and lack of diagnosis of joint hypermobility syndrome (JHS) and the seriousness of vascular Ehlers-Danlos syndrome (VEDS).

METHODS

Two hundred forty-nine Chilean patients with hereditary disorders of the connective tissues (CTDs) and 64 control subjects were evaluated for the diagnoses of JHS and VEDS using the validated Brighton criteria, as compared with the traditional Beighton score. In addition, the presence of blue sclera was determined, with the degree of intensity graded as mild, moderate, or marked.

RESULTS

The frequency of hereditary CTDs was 35%, with diagnoses of JHS in 92.4% of subjects, VEDS in 7.2%, and osteogenesis imperfecta in 0.4%. The Beighton score proved to be insufficient for the diagnosis of JHS (35% of subjects had a negative score), whereas the Brighton criteria yielded positive findings (a diagnosis of JHS) in 39% of control subjects. Blue sclera was frequent, being identified in 97% of JHS patients and 94% of VEDS patients. Moderate osteopenia/osteoporosis was observed in 50% of patients with VEDS and 26% of those with JHS. Dysautonomia, dyslipidemia, and scoliosis were more frequent in VEDS patients than in JHS patients. The typical JHS facial appearance and the "hand holding the head sign" were identified. Raynaud's phenomenon was extremely rare in JHS patients (2%). Ruptured uterus and cerebral aneurysm occurred in 12% and 6% of VEDS patients, respectively. Spontaneous pneumothorax was more frequent in VEDS patients (11%) than in JHS patients (0.9%).

CONCLUSION

JHS is very frequent but usually undiagnosed. The Beighton score is an insufficient method for JHS diagnosis. We recommend that physicians learn to recognize the typical facial features of JHS and be able to identify blue sclera. We also propose that validated hypermobility criteria be routinely used. Further research is needed to determine why the prevalence of JHS is so high in Chile.

Authors+Show Affiliations

Rheumatology Unit, Clinica Arauco and San Juan de Dios Hospital, Santiago, Chile. jaime.bravos@gmail.comNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

16447226

Citation

Bravo, Jaime F., and Carlos Wolff. "Clinical Study of Hereditary Disorders of Connective Tissues in a Chilean Population: Joint Hypermobility Syndrome and Vascular Ehlers-Danlos Syndrome." Arthritis and Rheumatism, vol. 54, no. 2, 2006, pp. 515-23.
Bravo JF, Wolff C. Clinical study of hereditary disorders of connective tissues in a Chilean population: joint hypermobility syndrome and vascular Ehlers-Danlos syndrome. Arthritis Rheum. 2006;54(2):515-23.
Bravo, J. F., & Wolff, C. (2006). Clinical study of hereditary disorders of connective tissues in a Chilean population: joint hypermobility syndrome and vascular Ehlers-Danlos syndrome. Arthritis and Rheumatism, 54(2), pp. 515-23.
Bravo JF, Wolff C. Clinical Study of Hereditary Disorders of Connective Tissues in a Chilean Population: Joint Hypermobility Syndrome and Vascular Ehlers-Danlos Syndrome. Arthritis Rheum. 2006;54(2):515-23. PubMed PMID: 16447226.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Clinical study of hereditary disorders of connective tissues in a Chilean population: joint hypermobility syndrome and vascular Ehlers-Danlos syndrome. AU - Bravo,Jaime F, AU - Wolff,Carlos, PY - 2006/2/1/pubmed PY - 2006/3/18/medline PY - 2006/2/1/entrez SP - 515 EP - 23 JF - Arthritis and rheumatism JO - Arthritis Rheum. VL - 54 IS - 2 N2 - OBJECTIVE: To demonstrate the high frequency and lack of diagnosis of joint hypermobility syndrome (JHS) and the seriousness of vascular Ehlers-Danlos syndrome (VEDS). METHODS: Two hundred forty-nine Chilean patients with hereditary disorders of the connective tissues (CTDs) and 64 control subjects were evaluated for the diagnoses of JHS and VEDS using the validated Brighton criteria, as compared with the traditional Beighton score. In addition, the presence of blue sclera was determined, with the degree of intensity graded as mild, moderate, or marked. RESULTS: The frequency of hereditary CTDs was 35%, with diagnoses of JHS in 92.4% of subjects, VEDS in 7.2%, and osteogenesis imperfecta in 0.4%. The Beighton score proved to be insufficient for the diagnosis of JHS (35% of subjects had a negative score), whereas the Brighton criteria yielded positive findings (a diagnosis of JHS) in 39% of control subjects. Blue sclera was frequent, being identified in 97% of JHS patients and 94% of VEDS patients. Moderate osteopenia/osteoporosis was observed in 50% of patients with VEDS and 26% of those with JHS. Dysautonomia, dyslipidemia, and scoliosis were more frequent in VEDS patients than in JHS patients. The typical JHS facial appearance and the "hand holding the head sign" were identified. Raynaud's phenomenon was extremely rare in JHS patients (2%). Ruptured uterus and cerebral aneurysm occurred in 12% and 6% of VEDS patients, respectively. Spontaneous pneumothorax was more frequent in VEDS patients (11%) than in JHS patients (0.9%). CONCLUSION: JHS is very frequent but usually undiagnosed. The Beighton score is an insufficient method for JHS diagnosis. We recommend that physicians learn to recognize the typical facial features of JHS and be able to identify blue sclera. We also propose that validated hypermobility criteria be routinely used. Further research is needed to determine why the prevalence of JHS is so high in Chile. SN - 0004-3591 UR - https://www.unboundmedicine.com/medline/citation/16447226/Clinical_study_of_hereditary_disorders_of_connective_tissues_in_a_Chilean_population:_joint_hypermobility_syndrome_and_vascular_Ehlers_Danlos_syndrome_ L2 - https://doi.org/10.1002/art.21557 DB - PRIME DP - Unbound Medicine ER -