Selected Heritable Disorders of Connective Tissue and Disability (2022) / Chapter Skim
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6 Overall Conclusions
6 Overall Conclusions
Pages 291-312
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From page 291... ...
OVERALL CONCLUSIONS Nature of Heritable Disorders of Connective Tissue Heritable disorders of connective tissue (HDCTs) are a heterogeneous group of inherited disorders that affect connective tissues throughout the body.
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From page 292... ...
Secondary impairments in any of the body systems can be severe and affect an individual's physical and mental functioning. MFS and related hereditary aortopathies have multiple clinical manifestations that, individually or in combination, can cause functional limitations of varying severity, often involving multiple body systems.
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Heritable disorders of connective tissue (HDCTs) comprise a large and varied group of disorders in children and adults that share the com mon feature of pronounced involvement of connective tissues, usually in multiple organ systems.
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From page 294... ...
An HDCT diagnosis should be considered for individuals who present with previously undiagnosed complex multisystem disorders; however, diagnosis of some HDCTs, in particular EDS, is often delayed, in some cases for a decade or more. One reason for delayed diagnosis is that because HDCTs can cause a wide variety of physical and mental secondary impairments involving multiple organ systems, patients often are referred to a succession of different specialists.
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From page 295... ...
Affected individuals also report inappropriate assessments and incorrect diagnoses, and many develop a mistrust of medical professionals and negative expectations about future health care encounters, which may lead them to avoid further medical consultations. For these reasons, the committee drew the following overall conclusion: 3.
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Management HDCTs are lifelong disorders for which there presently exist no curative treatments, but appropriate management can reduce the frequency and severity of the disorders' manifestations and resulting functional limitations. Management of HDCTs involves supportive care, early diagnosis and treatment of associated physical and mental secondary impairments, and preventive strategies to lessen or prevent problems that may occur over time.
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From page 297... ...
Clinicians performing procedures or providing anesthesia and periprocedures management need to be aware of the altered procedural and postprocedural risks associated with HDCTs and to have a screening strategy for these disorders. It is also important for individuals with HDCTs and their family members to learn about strategies for preventing or mitigating symptoms, as well as the risks associated with certain activities that may result in physical trauma, such as physically demanding activities or pregnancy and childbirth.
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From page 298... ...
There currently are no curative treatments for MFS and related hereditary aortopathies, EDS, or HSD, making this an important area for research. In addition, more research is needed to improve understanding of the pathophysiological mechanisms of EDS/HSD and the recognition, management, and outcomes of the many secondary impairments associated with these disorders.
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From page 299... ...
In particular, research on care services and interventions for HDCTs and secondary impairments is needed, including • more specific diagnostic criteria and biomarkers; • functional and biomeasures of severity; • effective treatment for HDCTs and management of their physical and mental manifestations, including comparative treatment trials; • the clinical course of the disorders throughout the lifetime of af fected individuals; • the impact of relevant reasonable accommodations on affected individuals' ability to participate in work and school; and • benefits versus risks of participation in common childhood activi ties (e.g., contact sports, gymnastics, dance)
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comprise a large and varied group of disorders in children and adults that share the com mon feature of pronounced involvement of connective tissues, usually in multiple organ systems. HDCTs can lead to a variety of physical and mental secondary impairments (i.e., manifestations, medical di agnoses, syndromes, comorbidities, or other health conditions)
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2-10. The severity of HDCTs is linked to the severity of affected individuals' physi cal and mental secondary impairments, including the combined effects of multiple impairments, as well as the frequency, severity, and predictability of their fluctuations.
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are a group of multisystem, heritable disorders of connective tissue (HDCTs) that share common elements of joint hypermobility and skin and soft tissue involvement.
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2-10. The severity of HDCTs is linked to the severity of affected individuals' physi cal and mental secondary impairments, including the combined effects of multiple impairments, as well as the frequency, severity, and predictability of their fluctuations.
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5-17. Individuals with HDCTs may experience significant variability in their physi cal and/or mental secondary impairments from day to day or even within a single day.
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Management of these disorders involves early diagnosis and aggressive monitoring and treatment of manifestations in multiple organ systems, including treatment of associated physical and mental secondary impairments present at the time of identification and measures to reduce or prevent problems that may occur with age.
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From page 306... ...
Management of these disorders involves early diagnosis and aggressive monitoring and treatment of manifestations in multiple organ systems, including treatment of associated physical and mental secondary impairments present at the time of identification and measures to reduce or prevent problems that may occur with age.
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From page 307... ...
3-2. Management of MFS and related hereditary aortopathies requires a mul tidisciplinary approach and involves early diagnosis of the multisystem findings associated with these syndromes, treatment of associated physical and mental secondary impairments, and measures to reduce or prevent problems that may present with aging.
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From page 308... ...
are a group of multisystem, heritable disorders of connective tissue (HDCTs) that share common elements of joint hypermobility and skin, and soft tissue involvement.
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2-4. Because HDCTs can cause a wide variety of physical and mental second ary impairments involving multiple organ systems, affected individuals often are referred to a succession of different specialists, resulting in delayed diagnosis of the underlying HDCT.
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From page 310... ...
Management of these disorders involves early diagnosis and aggressive monitoring and treatment of manifestations in multiple organ systems, including treatment of associated physical and mental secondary impairments present at the time of identification and measures to reduce or prevent problems that may occur with age.
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From page 311... ...
4-9. The prognosis and clinical course of EDS/HSD depend on individual patient factors, which vary greatly among affected individuals and are often related to the severity of disease-associated physical and mental secondary im pairments, as well as the EDS/HSD type.
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