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Suggested Citation:"Front Matter." National Academies of Sciences, Engineering, and Medicine. 2022. Selected Heritable Disorders of Connective Tissue and Disability. Washington, DC: The National Academies Press. doi: 10.17226/26431.
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Selected Heritable Disorders of
Connective Tissue and Disability

Paul A. Volberding, Carol Mason Spicer, Tom Cartaxo,
and Roberta A. Wedge, Editors

Committee on Selected Heritable Disorders of
Connective Tissue and Disability

Board on Health Care Services

Health and Medicine Division

A Consensus Study Report of

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THE NATIONAL ACADEMIES PRESS
Washington, DC
www.nap.edu

Suggested Citation:"Front Matter." National Academies of Sciences, Engineering, and Medicine. 2022. Selected Heritable Disorders of Connective Tissue and Disability. Washington, DC: The National Academies Press. doi: 10.17226/26431.
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This activity was supported by Contract/Task Order No. 28321318D00060015/00003 between the National Academy of Sciences and the U.S. Social Security Administration. Any opinions, findings, conclusions, or recommendations expressed in this publication do not necessarily reflect the views of any organization or agency that provided support for the project.

International Standard Book Number-13: 978-0-309-27553-8
International Standard Book Number-10: 0-309-27553-9
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Suggested citation: National Academies of Sciences, Engineering, and Medicine. 2022. Selected heritable disorders of connective tissue and disability. Washington, DC: The National Academies Press. https://doi.org/10.17226/26431.

Suggested Citation:"Front Matter." National Academies of Sciences, Engineering, and Medicine. 2022. Selected Heritable Disorders of Connective Tissue and Disability. Washington, DC: The National Academies Press. doi: 10.17226/26431.
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The National Academy of Sciences was established in 1863 by an Act of Congress, signed by President Lincoln, as a private, nongovernmental institution to advise the nation on issues related to science and technology. Members are elected by their peers for outstanding contributions to research. Dr. Marcia McNutt is president.

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Learn more about the National Academies of Sciences, Engineering, and Medicine at www.nationalacademies.org.

Suggested Citation:"Front Matter." National Academies of Sciences, Engineering, and Medicine. 2022. Selected Heritable Disorders of Connective Tissue and Disability. Washington, DC: The National Academies Press. doi: 10.17226/26431.
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Consensus Study Reports published by the National Academies of Sciences, Engineering, and Medicine document the evidence-based consensus on the study’s statement of task by an authoring committee of experts. Reports typically include findings, conclusions, and recommendations based on information gathered by the committee and the committee’s deliberations. Each report has been subjected to a rigorous and independent peer-review process and it represents the position of the National Academies on the statement of task.

Proceedings published by the National Academies of Sciences, Engineering, and Medicine chronicle the presentations and discussions at a workshop, symposium, or other event convened by the National Academies. The statements and opinions contained in proceedings are those of the participants and are not endorsed by other participants, the planning committee, or the National Academies.

For information about other products and activities of the National Academies, please visit www.nationalacademies.org/about/whatwedo.

Suggested Citation:"Front Matter." National Academies of Sciences, Engineering, and Medicine. 2022. Selected Heritable Disorders of Connective Tissue and Disability. Washington, DC: The National Academies Press. doi: 10.17226/26431.
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COMMITTEE ON SELECTED HERITABLE DISORDERS OF CONNECTIVE TISSUE AND DISABILITY

PAUL A. VOLBERDING (Chair), Professor Emeritus, Department of Epidemiology and Biostatistics, University of California, San Francisco

REBECCA BASCOM, Professor, Department of Medicine and Department of Public Health Sciences, Penn State College of Medicine

ADAM D. BITTERMAN, Assistant Professor of Orthopaedic Surgery, Zucker School of Medicine at Hofstra/Northwell

ANTONIO BULBENA-VILARRASA, Distinguished Professor of Psychiatry and Chair, Department of Psychiatry and Forensic Medicine, Universitat Autònoma de Barcelona

PRADEEP CHOPRA, Assistant Professor (Clinical), Department of Medicine, Warren Alpert Medical School of Brown University; Director, Center for Complex Conditions, Rhode Island

HARRY C. DIETZ, III (through July 2021), Victor A. McKusick Professor of Medicine and Genetics; Investigator, Howard Hughes Medical Institute, Johns Hopkins University School of Medicine

CLAIR A. FRANCOMANO, Professor of Medical and Molecular Genetics, Indiana University School of Medicine; Director, Ehlers-Danlos Society Center for the Ehlers-Danlos Syndromes, Indiana University Health Center

WALTER R. FRONTERA, Professor, Department of Physical Medicine, Rehabilitation, and Sports Medicine, and Department of Physiology, University of Puerto Rico School of Medicine

PETRA M. KLINGE, Director, Pediatric Neurosurgery Division; Director, Center for CSF Disorders of the Brain and Spine; Professor, Department of Neurosurgery, Warren Alpert Medical School of Brown University

BARBARA L. KORNBLAU, Executive Director, Coalition for Disability Health Equity; Professor and Director, Occupational Therapy Program, Idaho State University

DEBORAH KRAKOW, Professor and Chair, Department of Obstetrics and Gynecology; Professor of Human Genetics, Pediatrics, and Orthopedic Surgery, David Geffen School of Medicine at the University of California, Los Angeles

CHERYL L. MAIER, Medical Director, Emory Special Coagulation Laboratory; Assistant Professor, Department of Pathology and Laboratory Medicine, Emory University School of Medicine

Suggested Citation:"Front Matter." National Academies of Sciences, Engineering, and Medicine. 2022. Selected Heritable Disorders of Connective Tissue and Disability. Washington, DC: The National Academies Press. doi: 10.17226/26431.
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ANNE L. MAITLAND, Assistant Professor, Department of Medicine, Icahn School of Medicine at Mount Sinai; Attending Physician, Mount Sinai South Nassau Chiari EDS Center Program; Medical Director, Comprehensive Allergy & Asthma Care and 3 Pillars Therapeutics

REED E. PYERITZ, William Smilow Professor of Medicine Emeritus, and Professor of Genetics Emeritus, University of Pennsylvania Perelman School of Medicine

LESLIE N. RUSSEK, Professor Emeritus, Department of Physical Therapy, Clarkson University

ERIC L. SINGMAN, Professor, Department of Ophthalmology and Visual Sciences, University of Maryland School of Medicine

Study Staff

CAROL MASON SPICER, Study Director

TOM CARTAXO, Associate Program Officer (through December 2021)

ROBERTA A. WEDGE, Senior Program Officer (from December 2021)

AUSTEN APPLEGATE, Research Associate (from May 2022)

VICTORIA BROWN, Senior Program Assistant

SHARYL NASS, Senior Director, Board on Health Care Services

Suggested Citation:"Front Matter." National Academies of Sciences, Engineering, and Medicine. 2022. Selected Heritable Disorders of Connective Tissue and Disability. Washington, DC: The National Academies Press. doi: 10.17226/26431.
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Reviewers

This Consensus Study Report was reviewed in draft form by individuals chosen for their diverse perspectives and technical expertise. The purpose of this independent review is to provide candid and critical comments that will assist the National Academies of Sciences, Engineering, and Medicine in making each published report as sound as possible and to ensure that it meets the institutional standards for quality, objectivity, evidence, and responsiveness to the study charge. The review comments and draft manuscript remain confidential to protect the integrity of the deliberative process.

We thank the following individuals for their review of this report:

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Although the reviewers listed above provided many constructive comments and suggestions, they were not asked to endorse the conclusions or recommendations of this report, nor did they see the final draft before its release. The review of this report was overseen by ALAN JETTE, MGH Institute of Health Professions, and ROBERT S. LAWRENCE, Johns Hopkins Bloomberg School of Public Health. They were responsible for making certain that an independent examination of this report was carried out in accordance with the standards of the National Academies and that all review comments were carefully considered. Responsibility for the final content rests entirely with the authoring committee and the National Academies.

Suggested Citation:"Front Matter." National Academies of Sciences, Engineering, and Medicine. 2022. Selected Heritable Disorders of Connective Tissue and Disability. Washington, DC: The National Academies Press. doi: 10.17226/26431.
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Preface

The U.S. Social Security Administration (SSA) provides support for individuals—adults and children—who are unable to function in employment or school due to chronic disabling medical conditions. While some conditions are straightforward, for example, a disease affecting a single organ, others are more complex, such as disorders that involve multiple organs and body systems. In these, impairments may reflect a summation of dysfunction from an array of sources. Also, while many disabling conditions can be diagnosed easily, others cannot be confirmed with a single biologic test. For these complex disorders affecting multiple organs and body systems determining disability can be challenging.

An example of such complex and difficult-to-diagnose disorders leading to impaired occupational and school function are those termed hereditary disorders of connective tissue (HDCTs). HDCTs, including Marfan syndrome and the Ehlers-Danlos syndromes, can disrupt the structure and function of many organs. Most are inherited with known genetic causes, while some demonstrate involvement of genetic factors with unknown genetic causes. Although often considered uncommon, HDCTs frequently go undiagnosed or are only detected after prolonged delays. Disability in HDCTs varies by the organs affected and the severity of resulting dysfunction. Additionally, many people with these conditions experience pain, fatigue, impaired cognition, and other neurological and immunological disorders. The constellation of clinical manifestations and severity in each person often varies over time. Functional disability in HDCTs can be linked to a single or multiple comorbidities potentially affecting multiple organ

Suggested Citation:"Front Matter." National Academies of Sciences, Engineering, and Medicine. 2022. Selected Heritable Disorders of Connective Tissue and Disability. Washington, DC: The National Academies Press. doi: 10.17226/26431.
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systems. HDCTs are not curable, and treatment is directed at preventing or mitigating specific consequences, often termed secondary impairments.

SSA, appreciating the difficulty in disability determinations for HDCTs, asked the Health and Medicine Division (HMD) of the National Academies of Sciences, Engineering, and Medicine to convene a committee of experts to review these disorders. SSA sought clarification on the epidemiology and diagnosis of HDCTs, on the ways in which these conditions affect the individual and insights into the disability determination process. To this end, the HMD convened a committee who carefully considered evidence in the literature and from invited discussants with both professional and personal experience in this area. The committee collected their findings and conclusions to assist SSA in its consideration of this group of medical conditions.

On behalf of the committee and the HMD project staff, I extend my sincere thanks to the many individuals who shared their time and expertise to support the committee’s work and inform its deliberations. The study was sponsored by the SSA, and we thank Andrea Bento, Megan Butson, Gina Clemons, Alayna Ness, Vincent Nibali, and Steven Rollins for their guidance and support. The committee also acknowledges SSA for verifying relevant technical content pertaining to the disability determination process for accuracy. The committee benefited greatly from discussions with individuals who presented at the committee’s open sessions: Andrea Bento, Maggie Buckley, Antonio Bulbena-Vilarrasa, Laura Pace, Jon Rodis, Peter Rowe, and Alissa Zingman. The committee is grateful to these presenters for volunteering to share their expertise, knowledge, data, and opinions with the committee and SSA. We also thank Peter Rowe for preparing a commissioned paper based on his presentation. Our appreciation goes to the reviewers for their invaluable feedback on an earlier draft of the report and to the monitor and coordinator who oversaw the report review.

The committee acknowledges the many staff within HMD who provided support in various ways to this project, including Carol Mason Spicer (study director), Tom Cartaxo (associate program officer), Victoria Brown (senior program assistant), Roberta Wedge (senior program officer), Austen Applegate (research associate), Karen Helsing (senior program officer), Micah Winograd (senior finance business partner), and Ron Brown (deputy director program finance). The committee extends great thanks and appreciation to Sharyl Nass, senior board director of the Board on Health Care Services, who oversaw the project. Rebecca Morgan (senior librarian) provided research assistance, and the report review, production, and communications staff all provided valuable guidance to ensure the success of the final product. Rona Brière and her staff are to be credited for the superb editorial assistance they provided in preparing the final report.

Suggested Citation:"Front Matter." National Academies of Sciences, Engineering, and Medicine. 2022. Selected Heritable Disorders of Connective Tissue and Disability. Washington, DC: The National Academies Press. doi: 10.17226/26431.
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Finally, I would like to deeply thank the committee of experts who volunteered their invaluable service in this review. The field of HDCTs is extremely broad, involving experts on a wide variety of affected body systems and the diagnosis and management of persons with HDCTs. The committee worked selflessly to ensure that the final report could be most effective in assisting SSA address their crucial efforts to guide the disability determination process in an accurate and efficient manner.

Paul A. Volberding, Chair
Committee on Selected Heritable Disorders
of Connective Tissue and Disability

Suggested Citation:"Front Matter." National Academies of Sciences, Engineering, and Medicine. 2022. Selected Heritable Disorders of Connective Tissue and Disability. Washington, DC: The National Academies Press. doi: 10.17226/26431.
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adults with myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS)

TABLES

4-1 Clinical Classification of the Ehlers-Danlos Syndromes, Inheritance Pattern, and Genetic Basis

4-2 Selected Hypermobility Assessment Scales

4-3 Surgical and Anesthetic Recommendations for Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type (JHS/EDS-HT)

B-1 Symptoms of Orthostatic Intolerance

B-2 Medications for Orthostatic Intolerance

B-3 Response to Ivabradine in a Young Adult with Joint Hypermobility and Inappropriate Sinus Tachycardia

ANNEX TABLES

Annex Table 3-1 Overview of Marfan Syndrome and Related Hereditary Aortopathies

Annex Table 4-1 Overview of Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders

Annex Table 5-1 Levels of Work Based on Physical Exertion Requirements

Annex Table 5-2 Physical; Vision, Hearing, and Speech; and Mental Activities

Annex Table 5-3 Selected Musculoskeletal Manifestations Associated with Heritable Disorders of Connective Tissue

Annex Table 5-4 Selected Neurologic Manifestations Associated with Heritable Disorders of Connective Tissue

Annex Table 5-5 Selected Cardiovascular and Hematologic Manifestations Associated with Heritable Disorders of Connective Tissue

Annex Table 5-6 Selected Respiratory Manifestations Associated with Heritable Disorders of Connective Tissue

Annex Table 5-7 Selected Immunologic Manifestations Associated with Heritable Disorders of Connective Tissue

Annex Table 5-8 Selected Gastrointestinal Manifestations Associated with Heritable Disorders of Connective Tissue

Suggested Citation:"Front Matter." National Academies of Sciences, Engineering, and Medicine. 2022. Selected Heritable Disorders of Connective Tissue and Disability. Washington, DC: The National Academies Press. doi: 10.17226/26431.
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Suggested Citation:"Front Matter." National Academies of Sciences, Engineering, and Medicine. 2022. Selected Heritable Disorders of Connective Tissue and Disability. Washington, DC: The National Academies Press. doi: 10.17226/26431.
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Acronyms and Abbreviations

6MWD six minute walk distance
ABC Scale Activities-specific Balance Confidence Scale
ACTH adrenocorticotropic hormone
ADA Americans with Disabilities Act
ADHD attention-deficit/hyperactivity disorder
ADL activity of daily living
aEDS arthrochalasia-type Ehlers-Danlos syndrome
ANA antinuclear antibody
ANCA antineutrophil cytoplasmic antibody
ASHA American Speech-Language-Hearing Association
BAI Beck Anxiety Inventory
BCS brittle cornea syndrome
BDI Beck Depression Inventory
BFI Brief Fatigue Inventory
BHS Birt-Hogg-Dubé syndrome
BiPAP bilevel positive airway pressure
BLS U.S. Bureau of Labor Statistics
BMAT Bruininks Motor Ability Test
BOT-2 Bruininks-Oseretsky Test of Motor Proficiency, 2nd Edition
CBC complete blood count
CBT cognitive behavioral therapy
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Suggested Citation:"Front Matter." National Academies of Sciences, Engineering, and Medicine. 2022. Selected Heritable Disorders of Connective Tissue and Disability. Washington, DC: The National Academies Press. doi: 10.17226/26431.
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CCA congenital contractural arachnodactyly
CDC Centers for Disease Control and Prevention
cEDS classical Ehlers-Danlos syndrome
CFS chronic fatigue syndrome, also myalgic encephalomyelitis
clEDS classical-like Ehlers-Danlos syndrome
CNS central nervous system
COMPASS 31 Composite Autonomic Symptom Score
CPAP continuous positive airway pressure
CRP C-reactive protein
CSF cerebrospinal fluid
CT computed tomography
CTA computed tomography angiography
cvEDS cardiac-valvular Ehlers-Danlos syndrome
DASH Disabilities of the Arm, Shoulder and Hand questionnaire
dEDS dermatosparaxis Ehlers-Danlos syndrome
DTH delayed-type hypersensitivity
ECM extracellular matrix
EDS Ehlers-Danlos syndromes
EGD esophagogastroduodenoscopy
EMG electromyogram
ESR erythrocyte sedimentation rate
FAMM Foot and Ankle Ability Measure
FCE Functional Capacity Evaluation
FSS Fatigue Severity Scale
GAF Global Assessment of Functioning scale
GERD gastroesophageal reflux disease
G-HSD generalized (joint) hypermobility spectrum disorder
GI gastrointestinal
HAT hereditary alpha tryptasemia
HDCT heritable disorder of connective tissue
hEDS hypermobile Ehlers-Danlos syndrome
HRQoL health-related quality of life
HSCT haematopoietic stem cell transplantation
HSD hypermobility spectrum disorder
JAN Job Accommodations Network
JH joint hypermobility
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Suggested Citation:"Front Matter." National Academies of Sciences, Engineering, and Medicine. 2022. Selected Heritable Disorders of Connective Tissue and Disability. Washington, DC: The National Academies Press. doi: 10.17226/26431.
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IADL instrumental activity of daily living
ICF International Classification of Functioning, Disability and Health
ICP intracranial pressure
IOM Institute of Medicine
IOP intraocular pressure
IPEX immune dysregulation, polyendocrinopathy, enteropathy, X-linked
ISTH International Society on Thrombosis and Haemostasis
kEDS kyphoscoliotic Ehlers-Danlos syndrome
KOOS Knee Injury and Osteoarthritis Outcome Score
LDS Loeys-Dietz syndrome
LE lower extremity
LEFS Lower Extremity Functional Scale
LPR laryngopharyngeal reflux
M-BESS Modified Balance Error Scoring System
MCAD mast cell activation disease
mcEDS musculocontractural Ehlers-Danlos syndrome
ME myalgic encephalomyelitis, also chronic fatigue syndrome
MET metabolic equivalent of task
MFI Mutidimensional Fatigue Inventory
MFS Marfan syndrome
MHQ Michigan Hand Outcomes Questionnaire
MINI mini international neuropsychiatric interview
MIRECC Mental Illness Research, Education, and Clinical Center
MRA magnetic resonance angiography
MRI magnetic resonance imaging
MRV magnetic resonance venography
NASEM National Academies of Sciences, Engineering, and Medicine
NDI Neck Disability Index
NLM U.S. National Library of Medicine
NMDAR N-methyl-D-aspartate receptors
NMH neurally mediated hypotension
NORD National Organization for Rare Disorders
NRS Numeric Rating Scale
OCT optical coherence tomography
ODI Oswestry Disability Index
Page xxiv Cite
Suggested Citation:"Front Matter." National Academies of Sciences, Engineering, and Medicine. 2022. Selected Heritable Disorders of Connective Tissue and Disability. Washington, DC: The National Academies Press. doi: 10.17226/26431.
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OI osteogenesis imperfecta
ORS Occupational Requirements Survey
PCORI Patient-Centered Outcomes Research Institute
PedsQL Functional Disability Inventory of Pediatric Quality of Life
PEM postexertional malaise
PID primary immunodeficiency
PIDD primary immunodeficiency disease
POTS postural orthostatic tachycardia syndrome
PREE Patient-Rated Elbow Evaluation
PROMIS Patient-Reported Outcomes Measurement Information System
PRWE Patient-Rated Wrist Evaluation
RAST radioallergosorbent test
RFC residual functional capacity
RMDQ Roland-Morris Disability Questionnaire
SCID severe combined immunodeficiency
SCID structured clinical interview for DSM
SDS Sheehan Disability Scale
SFN-SIQ small fiber neuropathy Symptom Inventory Questionnaire
SGA substantial gainful activity
SGS Shprintzen-Goldberg syndrome
SLE systemic lupus erythematosus
SNAP sensory nerve action potential
SODA Sequential Occupational Dexterity Assessment
SOFAS Social and Occupational Functioning Assessment Scale
spEDS spondylodysplastic Ehlers-Danlos syndrome
SSA U.S. Social Security Administration
SSDI Social Security Disability Insurance
SSI Supplemental Security Income
TENS transcutaneous electric nerve stimulation
UBM ultrasound biomicroscopy
UE upper extremity
VAS Visual Analog Scale
vEDS vascular Ehlers-Danlos syndrome
VUS variants of uncertain significance
vWF von Willebrand Factor
Suggested Citation:"Front Matter." National Academies of Sciences, Engineering, and Medicine. 2022. Selected Heritable Disorders of Connective Tissue and Disability. Washington, DC: The National Academies Press. doi: 10.17226/26431.
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WAI Work Ability Index
WD-FAB Work Disability Functional Assessment Battery
WHO World Health Organization
WOMAC Western Ontario and McMaster Universities Osteoarthritis Index
WOSI Western Ontario Shoulder Instability Index
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Heritable disorders of connective tissue (HDCTs) are a diverse group of inherited genetic disorders and subtypes. Because connective tissue is found throughout the body, the impairments associated with HDCTs manifest in multiple body systems and may change or vary in severity throughout an affected individual's lifetime. In some cases, these impairments may be severe enough to qualify an eligible child or adult for monetary benefits through the U.S. Social Security Administration's (SSA's) Social Security Disability Insurance or Supplemental Security Income program. SSA asked the National Academies of Sciences, Engineering, and Medicine to convene an expert committee that would provide current information regarding the diagnosis, treatment, and prognosis of selected HDCTs, including Marfan syndrome and the Ehlers-Danlos syndromes, and the effect of the disorders and their treatment on functioning. The resulting report, Selected Heritable Disorders of Connective Tissue and Disability, presents the committee's findings and conclusions.

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