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Pharmacological resources, diagnostic approach and coordination of care in joint hypermobility-related disorders
1a Department of Pediatric Cardiology and Cardiac Surgery , IRCCS-Ospedale Pediatrico Bambino Gesù , Rome , Italy.
Insights
Joint hypermobility (JH) is a key feature of several genetic connective tissue disorders. Accurate classification and systematic management are crucial for patients with JH and related conditions.
Area of Science:
- Genetics and Rheumatology
- Connective Tissue Disorders
- Hypermobility Syndromes
Background:
- Joint hypermobility (JH) is a primary characteristic of numerous hereditary connective tissue disorders, including Ehlers-Danlos syndromes, TGFβ-pathway disorders, lateral meningocele syndrome, arterial tortuosity syndrome, and cutis laxa syndromes.
- Current medical practice differentiates between isolated, non-syndromic JH and Mendelian syndromes or hypermobility spectrum disorders (HSD).
- Hypermobility spectrum disorders represent a new diagnostic category for individuals with JH and associated musculoskeletal symptoms, lacking criteria for defined single-gene disorders.
Purpose of the Study:
- To provide a practical overview of the nomenclature for JH and JH-related disorders.
- To outline critical clinical management areas for JH-related conditions.
- To discuss the current state and future directions of pharmacological approaches.
Main Methods:
- A review of current literature and clinical practice regarding joint hypermobility and related disorders.
- Summarization of nomenclature and classification systems.
- Identification of key clinical management challenges and therapeutic strategies.
Main Results:
- Nomenclature and classification of JH and related disorders are presented from a clinical perspective.
- Key management areas include pain, cardiovascular and respiratory issues, fatigue, dysautonomia, bone fragility, and soft tissue fragility.
- Current medical management relies on limited evidence; ongoing research aims for personalized pharmacological treatments for cardiovascular risk, pain, and bone mass.
Conclusions:
- Accurate classification of JH-related disorders requires a systematic approach integrating molecular testing with clinical expertise.
- A multispecialty, hierarchical care model is recommended for managing systemic phenotypes associated with JH.
- Further research is needed to develop evidence-based, personalized treatments for JH-related conditions.
Introduction:
Joint hypermobility (JH) is the hallmark of many hereditary soft connective tissue disorders, including Ehlers-Danlos syndromes and related disorders, disorders of the TGFβ-pathway, lateral meningocele syndrome, arterial tortuosity syndrome, and cutis laxa syndromes. Contemporary practice separates individuals with isolated, non-syndromic JH from patients with Mendelian syndromes and those with hypermobility spectrum disorders. The latter is a new nosologic entity grouping together individuals with JH and related musculoskeletal manifestations, but lacking inclusion criteria for well-defined and/or single-gene disorders. Area covered: Nomenclature of JH and JH-related disorders are summarized on a practically oriented perspective. Critical areas of clinical management comprise pain; cardiovascular and respiratory issues; fatigue and dysautonomia; bone fragility; and capillary, skin and soft tissue fragility. Medical management stands on low-evidence data. Ongoing preclinical and clinical studies are aimed to reach a more personalized pharmacological approach to the management of the cardiovascular risk, musculoskeletal pain, and reduced bone mass. Expert commentary: Correct classification of patients with JH-related disorders needs a systematic approach, in which a wide array of molecular tests should be intermingled with strong clinical competences in highly specialized settings. A multispecialty, hierarchical approach should be encouraged for optimal coordination of care in systemic phenotypes.
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