EHLERS-DANLOS SYNDROME (EDS)
EDS is a genetic disorder of collagen that can cause a large number of problems. Although thought to be very rare by many physicians, it turns out EDS is quite common. It affects primarily women, starting in childhood or young adulthood.
EDS & Hypermobile EDS
What is EDS?
EDS Symptoms & Treatments
Vascular EDS & Genetic Testing
HSD vs EDS
Are We Asking the Right Questions?
VIRTUAL Q&A Session:
EDS – HSD – CM – CCI
FREQUENTLY ASKED QUESTIONS
(from our social media followers)
Yes. This is a common problem we see. It is important to get someone with EDS into physical therapy with a therapist knowledgeable about EDS.
It is often unclear. It is not so important what we call but rather to appreciate that there is abnormal movement of joints.
No. The collagen you ingest gets broken down into building blocks (amino acids) to be absorbed from the intestines. Your body uses these building blocks to create collagen molecules. If you have a genetic problem that causes collagen to be made incorrectly (EDS), then you are still going o make collagen incorrectly no matter how much normal collagen you eat.
EDS is mainly diagnosed by looking at a number of clinical features. For example, how many joints are overly flexible, is the skin excessively stretchy or soft, are there abnormal types of scars, etc. You can find a detailed description of diagnostic criteria at https://www.ehlers-danlos.com/diagnostic-criteria/
If someone is not hypermobile and inflexible but have double-jointed jaw and thumb, could this be EDS?
Yes, EDS can show up in different ways. Not everyone with it is clearly hypermobile.
While it is possible to have more than one type of EDS, this is actually very uncommon. There is a lot of overlap between the different types of EDS, so it is common for people to wonder if they have more than one type. Evaluation by a doctor specialized in EDS will help.
No hEDS cannot be diagnosed by skin biopsy.
Mutations in TNXB can cause EDS. It depends on the details of the mutation as to what it does or does not mean.
There is a lot of research, but no definitive answers. Mast cells, which are dysfunctional in many patients with EDS and POTS, seem to play a role in autism. There may be other inherited factors as well.
There is no test for HSD at this time. What lab tests, if any, might be helpful should be determined by seeing a clinical knowledgeable about EDS and HSD.
Chiari Malformation is more common in people with hEDS. Some people develop Syringomyelia from Chiari Malformations. So, there is a potential link.
If someone had met the criteria for HSD when they were young but are now over 50 and the body is stiff and damaged, how can you test them for HSD?
It can be tricky assessing someone in their 50’s because features of hypermobility may no longer be present. However, we look at the “big picture” to include what you used to be able to do, what other symptoms and problems are present (in addition to joint hypermobility), and whether there are family members also affected.