Most of the time patients will come to us with a specific complaint in one general location. "My neck hurts when I'm working" or "my knee hurts when I run" and so fort. However, every now and then a patient will come in and tell their story. They will describe the number of doctors they have seen, the MRI's and CT Scans they have gotten and the information they have read on the internet. It almost seems as if their injury is a story and no one is able to provide a happy ending. These patients are often chalked up as "exaggerating", "hypochondriac" or "malingering". However, until proven otherwise it is my job to believe everything their saying. The patients long history of injuries, symptoms and signs are painting a diagnostic picture.
Ehler-Danlos Syndrome - Rare Diagnostic Case of the Month:
EDS is actually a group of conditions which have different signs and symptoms related to abnormalities in connective tissue. These abnormalities are caused by a genetic mutation in collagen. Collagen is like the glue our joints, muscles, ligaments and skin needs to stay together. There are 29 different types of collagen which is placed in numerous different areas of the body with different purposes. This is one main reason why EDS presents with such a slew of different symptoms. Essentially EDS is a heritable disorder that can affect skin, ligaments, blood vessels and internal organs.
If it's a genetic condition why should I care?
Many of those with EDS do not get diagnosed by walking straight into a geneticist office. It takes knowledge from someone as a primary care physician to suspect such a syndrome and refer them out. This means although it is not your speciality, one should be well aware of the diagnosis. Furthermore, EDS can be masked by a number of different MSK injuries which will appear as a "normal" patient complaint. Such examples include:
-Flat feet (55% of EDS patients)
-Long history of shoulder dislocations
-Carpal instabilities
-External Snapping Hip Syndrome
-Scoliosis
In addition, five of the six subtypes of EDS have variants of being hypermobile. This means people who present with multiple joint instabilities, extreme flexibility or easily bruising are often just deemed "hypermobile" or may be associated with their sport such as gymnast. In reality this person may be suffering from EDS and go years without ever being diagnosed.
So what's the difference between hypermobility syndrome/general ligament laxity and EDS?
The difficult part is some say there is no difference and find the two to be synonymous with one another. There is actually one form of EDS known as type 3 and is deemed hypermobility EDS. Due to the fact there is so many varieties of EDS and general hypermobility in people, a clear distinction has not fully been made and is often debated. To my knowledge this means one can have hypermobility syndrome or be deemed "hypermobile" and yet not have the genetic link to EDS. Confusing I know....
So how do I diagnose it?
Keep in mind there is multiple different major and minor types of EDS and we are mainly discussing here the hypermobility type. Often manual therapist use a system known as Beighton hypermobility criteria. This consist of a number of different joint findings which obtain a numerical value. The total score one can achieve on a Beighton scale is 9, with 5/9 or more being deemed as someone who is "hypermobile" [see image below].
Other signs and symptoms of type 3 EDS include:
-History of recurrent joint pain, subluxations and dislocations
-Patient may easily bruise and considered "clumsy" their whole life
-Chronic limb and joint pain which can be debilitating with normal imaging
-Joint effusions
-Premature osteoarthritis
-Extremely elastic skin
-Delayed healing of injuries leading to atrophic scars
There is no current biochemical or genetic markers to be identified for the hypermobility subtype. (Too my current knowledge). Other forms of EDS and variants can often be diagnosed with a simple urine test, skin biopsy or genetic testing.
Other groups of EDS consist of:
-Vascular
-Classical
-Kyphoscoliosis
-Arthrochalasia
-Dermatosparaxis
So the next time a patient comes in and considers themselves to be just "flexible", "clumsy" or a "slow healer" don't rule out EDS. After all you could be the one person that provides them with a happy ending to their medical story. Dr. Wayne Button BSc, D.C
Callewaert B, Malfait F, Loeys B, & De Paepe A (2008). Ehlers-Danlos syndromes and Marfan syndrome. Best practice & research. Clinical rheumatology, 22 (1), 165-89 PMID: 18328988
Schroeder EL, & Lavallee ME (2006). Ehlers-Danlos syndrome in athletes. Current sports medicine reports, 5 (6), 327-34 PMID: 17067502
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