Heritable Connective Tissue Disorders (HCTD) (Group of Conditions)

Heritable Connective Tissue Disorders (HCTD) (Group of Conditions)

IMPORTANT INFORMATION

The information on the Rare Awareness Rare Education (RARE) Portal is intended for educational purposes only and does not replace professional advice.

Rare diseases typically display a high level of symptom complexity and variability. Individuals diagnosed with the same rare disease may be impacted differently and each person’s experience is unique. Please seek support from qualified healthcare professionals to learn more about the most suitable care and support options for you.

For more information on this disease, please refer to Connective Tissue Disorders Network Australia (CTDNA).1

A list of heritable connective tissue disorders can be found at RARE Portal: List of Heritable Connective Tissue Disorders (HCTD). Individual pages for the specific HCTDs will be added to the RARE Portal in time.

If you are aware of any additional information that may benefit stakeholders with an interest in this page, or if you notice any broken links or inaccurate information, please let us know via the Contribute page.

Contributors

This page has been co-developed with RVA Partner, Connective Tissue Disorders Network Australia (CTDNA).1

Emergency Management

There may be special considerations for the emergency management of individuals living with heritable connective tissue disorders (HCTD) presenting to emergency departments.

HCTD often affects multiple organ systems.1 Individuals with HCTD can present with a wide range of symptoms and complications and may have other comorbidities that may need to be taken into consideration.

Individual pages for the specific HCTDs will be added to the RARE Portal in time and will contain more information on emergency management for specific HCTDs.

Clinical Care Guidelines

We are not aware of any clinical care guidelines for heritable connective tissue disorders (HCTD) in Australia. If you know of any relevant care guidelines, please let us know via the Contribute page.

National Academies of Sciences, Engineering, and Medicine: Selected Heritable Disorders of Connective Tissue and Disability (Consensus Study Report) was prepared by an expert committee, convened by the United States National Academies of Sciences, Engineering, and Medicine, to provide current information regarding the diagnosis, treatment, and prognosis of selected HCTDs.

Summary

Heritable connective tissue disorders (HCTD) are a group of inherited genetic conditions that affect connective tissues. Connective tissues are an important part of every organ system1 and help to join and support other tissues in the body.2 There are many different types of connective tissues, which contribute to various body functions.2,3 HTCD can affect many organ systems, resulting in a wide range of symptoms that can vary between individuals and make it difficult to diagnose.1 Early diagnosis and appropriate management can help reduce the severity of the condition and further complications. HCTD can affect children and adults.

A list of the different types of HCTD can be found at RARE Portal: List of Heritable Connective Tissue Disorders (HCTD). Individual pages for the specific HCTDs will be added to the RARE Portal in time.

Personal Stories

Heritable connective tissue disorders (HCTD) vary between individuals, and each person’s experience is unique.

Please visit Connective Tissue Disorders Network Australia (CTDNA): Blog to read the personal stories of people living with HCTD.

Symptoms

There are a wide range of symptoms associated with heritable connective tissue disorders (HCTD).1 Symptoms vary between the type of HCTD and between individuals.

Common features of HCTD include joints that are very flexible and have an abnormally large range of movement (joint hypermobility), skin that can stretch beyond the normal range (skin hyperextensibility) and tissue that is fragile.4 Individual with HCTD also commonly experience pain and fatigue.4,5 There are also reports of gastrointestinal issues and cardiovascular complications.4,6

Please visit the individual pages on the RARE Portal and speak to your medical team to learn more about the symptoms for a specific type of HCTD.

Cause/Inheritance

Heritable connective tissue disorders (HCTD) are genetic conditions and can be passed on from parent to child (heritable), however the genetic cause for some types of HCTD are currently still unknown.1

If you would like to learn more about the inheritance and impact of a specific type of HCTD that has a known genetic cause, please ask your doctor for a referral to a genetic counsellor. Genetic counsellors are qualified allied health professionals who can provide information and support regarding genetic conditions and testing. More information on genetic counselling can be found on the National Services page and specific State and Territory Services pages on the RARE Portal.

Please visit the individual pages on the RARE Portal and speak to your medical team to learn more about the cause and inheritance pattern, if available, for a specific type of HCTD.

Diagnosis

Diagnosis of heritable connective tissue disorders (HCTD) may be made based on clinical examination according to established clinical criteria, family history and genetic testing if a genetic diagnostic test is available.1

For some types of HCTD, the genetic cause is not yet known, hence there is no diagnostic test available.

Please visit the individual pages on the RARE Portal and speak to your medical team to learn more about available diagnostic pathways for a specific type of HCTD.

Treatment

There is no curative treatment for heritable connective tissue disorders (HCTD), but there are management strategies, which depend on an individual’s specific condition and symptoms.1 This may include pain management, physiotherapy, occupational therapy, and use of aids and orthotics.Regular monitoring of multiple organ systems is vital to enable early detection and treatment of symptoms and complications.1 Management of HCTD is often lifelong and require a multidisciplinary medical team.

It is best to speak with your medical team to learn more about any available treatment or suitable management strategies for a specific type of HCTD.

Clinical Care

Healthcare professionals involved in the treatment of heritable connective tissue disorders (HCTD) may include general practitioners (GP), paediatricians, geneticists, rheumatologists, orthopaedists, neurologists, cardiologists, cardiovascular surgeons, ophthalmologists, physiotherapists, occupational therapists and psychologists.1 The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.

Clinical Care Services

Connective Tissue Dysplasia (CTD) Clinic
Clinical Genetics
The Children’s Hospital at Westmead
Website: https://www.schn.health.nsw.gov.au/clinical-genetics-childrens-hospital-westmead

The Connective Tissue Dysplasia (CTD) clinic provides a tertiary diagnostic advice and tertiary rehabilitation services for children with Connective Tissue Disorders such as Marfan Syndrome or genetic forms of Ehlers-Danlos Syndrome. The Clinical Genetics Department does not provide ongoing management for children with Connective Tissue Dysplasias.

Marfans and Aneurysms Clinic (QLD)
Heart and Lung Clinic
The Prince Charles Hospital
Website: https://metronorth.health.qld.gov.au/tpch/healthcare-services/cardiology/adult-congenital-heart-disease

Inherited Diseases Clinic (VIC)
The Alfred
Website: https://www.alfredhealth.org.au/services/hp/inherited-diseases-clinic/

The Inherited Diseases Clinic specialises in the management of Marfan’s Syndrome and Hypertrophic Cardiomyopathy (HCM).

Research

Please visit Australian Clinical Trials to learn about clinical trials for heritable connective tissue disorders (HCTD) in Australia; there may not be any clinical trials currently available.

Information regarding clinical trials for HCTD in other countries can be found at ClinicalTrials.gov; there may not be any clinical trials currently available.

It is best to discuss your interest in any clinical trials with your medical team to determine suitability and eligibility.

Rare Disease Organisation(s)

Connective Tissue Disorders Network Australia (CTDNA)
Website: https://ctdna.org.au/
Contact form: https://ctdna.org.au/contact-us/

Connective Tissue Disorders Network Australia (CTDNA) is the collaborative effort of people both living with, and / or caring for those with HCTD. Individuals are often both; a patient, and a carer. CTDNA seeks to establish a national network of lived experience advocates, healthcare professionals and researchers with an interest in HCTD – a network of like-minded individuals coming together to better the care and management of Australians impacted by HCTD.

Please note that RVA does not necessarily monitor or endorse each group/organisation’s operational governance.

Support Services/Resources

For information on available government and social services that provide support for individuals with a rare disease, please visit the National and State Services pages.

Mental Health

Please visit the ‘Mental Health’ sections listed on the National and State Services pages.

References
  1. National Academies of Sciences, Engineering, and Medicine; Health and Medicine Division; Board on Health Care Services; Committee on Selected Heritable Disorders of Connective Tissue and Disability [Internet]. Washington (DC): National Academies Press (US). 2002. Accessed 19 June 2024. https://www.ncbi.nlm.nih.gov/books/NBK584974
  2. Kamrani P, Marston G, Arbor TC, et al. Anatomy, Connective Tissue. Updated 5 March 2023. In: StatsPearl [Internet]. Treasure Island (FL): StatPearls Publishing. 2024-Jan. Accessed 20 June 2024. https://www.ncbi.nlm.nih.gov/books/NBK538534/
  3. Malfait F, Forlino A, Sengle G. Editorial: Molecular mechanisms of heritable connective tissue disorders. Front. Genet. 2022; 13. https://doi.org/10.3389/fgene.2022.866665
  4. Kazkaz H, Grahame R. The rheumatological heritable disorders of connective tissue. Medicine. 2022;50(3): 189-193. https://doi.org/10.1016/j.mpmed.2021.12.010
  5. Warnink-Kavelaars J, de Koning LE, Rombaut L, et al. Heritable Connective Tissue Disorders in Childhood: Increased Fatigue, Pain, Disability and Decreased General Health. Genes 2021;12(6):831. https://doi.org/10.3390/genes12060831
  6. Yagyu T, Noguchi T. Diagnosis and treatment of cardiovascular disease in patients with heritable connective tissue disorders or heritable thoracic aortic diseases. Cardiovasc. Interv. and Ther. 2024; 39, 126–136. https://doi.org/10.1007/s12928-023-00977-0
Page Last Updated

02/07/2024 18:47