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Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.

Abstract

Joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT) is an evolving and protean disorder mostly recognized by generalized joint hypermobility and without a defined molecular basis. JHS/EDS-HT also presents with other connective tissue features affecting a variety of structures and organs, such as skin, eye, bone, and internal organs. However, most of these signs are present in variable combinations and severity in many other heritable connective tissue disorders. Accordingly, JHS/EDS-HT is an "exclusion" diagnosis which needs the absence of any consistent feature indicative of other partially overlapping connective tissue disorders. While both Villefranche and Brighton criteria include such an exclusion as a mandatory item, a systematic approach for reaching a stringent clinical diagnosis of JHS/EDS-HT is still lacking. The absence of a consensus on the diagnostic approach to JHS/EDS-HT concerning its clinical boundaries with similar conditions contribute to limit our actual understanding of the pathologic and molecular bases of this disorder. In this review, we revise the differential diagnosis of JHS/EDS-HT with those heritable connective tissue disorders which show a significant overlap with the former and mostly include EDS classic, vascular and kyphoscoliotic types, osteogenesis imperfecta, Marfan syndrome, Loeys-Dietz syndrome, arterial tortuosity syndrome, and lateral meningocele syndrome. A diagnostic flow chart is also offered with the attempt to support the less experienced clinician in stringently recognizing JHS/EDS-HT and stimulate the debate in the scientific community for both management and research purposes.

Authors

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Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

25821090

Citation

Colombi, Marina, et al. "Differential Diagnosis and Diagnostic Flow Chart of Joint Hypermobility Syndrome/ehlers-danlos Syndrome Hypermobility Type Compared to Other Heritable Connective Tissue Disorders." American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, vol. 169C, no. 1, 2015, pp. 6-22.
Colombi M, Dordoni C, Chiarelli N, et al. Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders. Am J Med Genet C Semin Med Genet. 2015;169C(1):6-22.
Colombi, M., Dordoni, C., Chiarelli, N., & Ritelli, M. (2015). Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 169C(1), pp. 6-22. doi:10.1002/ajmg.c.31429.
Colombi M, et al. Differential Diagnosis and Diagnostic Flow Chart of Joint Hypermobility Syndrome/ehlers-danlos Syndrome Hypermobility Type Compared to Other Heritable Connective Tissue Disorders. Am J Med Genet C Semin Med Genet. 2015;169C(1):6-22. PubMed PMID: 25821090.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders. AU - Colombi,Marina, AU - Dordoni,Chiara, AU - Chiarelli,Nicola, AU - Ritelli,Marco, PY - 2014/11/04/received PY - 2014/12/30/accepted PY - 2015/3/31/entrez PY - 2015/3/31/pubmed PY - 2015/12/17/medline KW - Ehlers-Danlos syndrome hypermobility type KW - diagnostic flow chart KW - differential diagnosis KW - heritable connective tissue disorders KW - joint hypermobility syndrome SP - 6 EP - 22 JF - American journal of medical genetics. Part C, Seminars in medical genetics JO - Am J Med Genet C Semin Med Genet VL - 169C IS - 1 N2 - Joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT) is an evolving and protean disorder mostly recognized by generalized joint hypermobility and without a defined molecular basis. JHS/EDS-HT also presents with other connective tissue features affecting a variety of structures and organs, such as skin, eye, bone, and internal organs. However, most of these signs are present in variable combinations and severity in many other heritable connective tissue disorders. Accordingly, JHS/EDS-HT is an "exclusion" diagnosis which needs the absence of any consistent feature indicative of other partially overlapping connective tissue disorders. While both Villefranche and Brighton criteria include such an exclusion as a mandatory item, a systematic approach for reaching a stringent clinical diagnosis of JHS/EDS-HT is still lacking. The absence of a consensus on the diagnostic approach to JHS/EDS-HT concerning its clinical boundaries with similar conditions contribute to limit our actual understanding of the pathologic and molecular bases of this disorder. In this review, we revise the differential diagnosis of JHS/EDS-HT with those heritable connective tissue disorders which show a significant overlap with the former and mostly include EDS classic, vascular and kyphoscoliotic types, osteogenesis imperfecta, Marfan syndrome, Loeys-Dietz syndrome, arterial tortuosity syndrome, and lateral meningocele syndrome. A diagnostic flow chart is also offered with the attempt to support the less experienced clinician in stringently recognizing JHS/EDS-HT and stimulate the debate in the scientific community for both management and research purposes. SN - 1552-4876 UR - https://www.unboundmedicine.com/medline/citation/25821090/Differential_diagnosis_and_diagnostic_flow_chart_of_joint_hypermobility_syndrome/ehlers_danlos_syndrome_hypermobility_type_compared_to_other_heritable_connective_tissue_disorders_ L2 - https://doi.org/10.1002/ajmg.c.31429 DB - PRIME DP - Unbound Medicine ER -