Knowing these common signs and symptoms of a Connective Tissue Disorder could save a life
Connective Tissue Disorders (CTDs) are more common than you think.1 It’s likely that you have treated some of your patients with CTDs and didn’t even know it.2 It’s also just as likely that some of those patients were also unaware of their potential diagnosis.2
For some CTDs, it can take years for a diagnosis to be made. Sometimes these people are well into adulthood before they finally get a diagnosis for their CTD. Take me for example, I always had signs, and looking back some symptoms too, that I had Marfan Syndrome (MFS). However, it wasn’t until I needed to have open heart surgery in 2011 that I was finally diagnosed. This is not an uncommon story for people with CTDs.
Some CTDs have potentially life-threatening signs and symptoms associated with them. Being aware of these signs and symptoms could possibly save someone’s life one day. At the very least, put your patient on the right path to finding an answer.
Since there are so many different types of CTDs (more than 200 identified disorders or diseases that affect connective tissues), we will just be focusing on the common signs and symptoms you may find in patients with possible Ehlers-Danlos Syndrome (EDS) and MFS, especially since these are both types of CTDs that are likely to go undiagnosed for a long time.
EDS is a CTD that primarily affects the genes that produce collagen.3,4 Collagen is such an integral protein for the elasticity, stability, and integrity of structures in the body such as skin, blood vessels, joints, bones, and ligaments.3 There are numerous sub-categories of EDS, so for this reason we will try and focus on signs and symptoms that commonly overlap the different sub-types of EDS.3,4
MFS is a CTD that affects the FBN1 gene, which is a gene responsible for the synthesis of fibrillin – a protein that helps to produce microfibrils.5 Microfibrils a fine, thread-like structure that provides support and stability to blood vessels, bones, joints, ligaments, and tendons.5
Common Signs and Symptoms for EDS6:
- Joint hypermobility
- Thin, velvety, elastic skin that can bruise easily.
- Scarring and sagging of skin.
- Large eyes.
- Thin nose.
- Lobe-less ears.
Common Signs and Symptoms of MFS7:
- Joint hypermobility.
- Tall and slender build. Their arm span will often be longer than their height.
- Disproportionately long arms and legs. Even long fingers and toes.
- Protruding chest bone or sinking chest bone.
- Flat feet.
- Crowded teeth.
Photo credit: Joint hypermobility syndrome (a.k.a. Ehlers-Danlos Syndrome, Hypermobility Type): An updated critique February 2013, Giornale Italiano di Dermatologia e Venereologia 148(1):13-36
How can being aware of these signs and symptoms potentially save a life?
Awareness of signs and symptoms of CTDs could point a patient in the right direction of a diagnosis and help to direct appropriate treatment where necessary. People with CTDs need to take extra care of their body because of the stress their body faces under normal pressure of everyday life.8 It is essential that people with, diagnosed or undiagnosed, CTDs take care of their whole-body health by investing in the fundamentals of health; hydration, nutrition, adequate sleep and rest, stress management, and movement.8,9
Genetic mutations that affect structures in the body such as blood vessels, puts these people at particular vulnerabilities that could increase their risk to life-threatening health conditions.10 Similar to what happened to me when I ended up with an aortic aneurysm and dissected aorta. Having the knowledge to be able to bring awareness to someone else’s possible diagnosis could potentially save their life.
- Australian Institue of Health and Welfare. Rheumatoid Arthritis [Internet]. Chronic Musculoskeletal Conditions. 2019 [cited 2019 Nov 27]. Available from: https://www.aihw.gov.au/reports/chronic-musculoskeletal-conditions/rheumatoid-arthritis/contents/who-gets-rheumatoid-arthritis
- Terry RH, Palmer ST, Rimes KA, Clark CJ, Simmonds J V, Horwood JP. Living with joint hypermobility syndrome: patient experiences of diagnosis, referral and self-care. Fam Pract [Internet]. 2015/04/24. 2015 Jun;32(3):354–8. Available from: https://www.ncbi.nlm.nih.gov/pubmed/25911504
- National Center for Advancing Translational Sciences. Ehlers-Danlos syndromes [Internet]. Diseases. 2017 [cited 2020 Jan 23]. Available from: https://rarediseases.info.nih.gov/diseases/6322/ehlers-danlos-syndromes
- US National Library of Medicine. Ehlers-Danlos syndrome [Internet]. Health Conditions. 2019 [cited 2019 Nov 27]. Available from: https://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome#statistics
- US National Library of Medicine. FBN1 gene [Internet]. Genes. 2019 [cited 2019 Nov 17]. Available from: https://ghr.nlm.nih.gov/gene/FBN1
- The Ehlers-Danlos Society. WHAT ARE THE EHLERS-DANLOS SYNDROMES? [Internet]. EDS & HSD Info. 2020 [cited 2020 Jan 17]. Available from: https://www.ehlers-danlos.com/what-is-eds/
- The Marfan Foundation. WHAT ARE THE SIGNS? [Internet]. Marfan & Related Conditions. 2014 [cited 2020 Jan 17]. Available from: https://www.marfan.org/about/signs
- Greaves CJ, Campbell JL. Supporting self-care in general practice. Br J Gen Pract [Internet]. 2007 Oct;57(543):814–21. Available from: https://www.ncbi.nlm.nih.gov/pubmed/17925140
- Palmer S, Bailey S, Barker L, Barney L, Elliott A. The effectiveness of therapeutic exercise for joint hypermobility syndrome: a systematic review. Physiotherapy [Internet]. 2013/10/05. 2014 Sep;100(3):220–7. Available from: https://www.ncbi.nlm.nih.gov/pubmed/24238699
- Yuan S-M, Jing H. Marfan’s syndrome: an overview. Sao Paulo Med J [Internet]. 2010;128(6):360–6. Available from: http://www.scielo.br/pdf/spmj/v128n6/a09v1286.pdf
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