August Is Gastroparesis Awareness Month

Gastroparesis Green RibbonAs regular readers know I have Ehlers-Danlos syndrome. Ehlers-Danlos quite often seems to bring along quite a collection of it’s friends to play with those of us who have it. It’s really not a case of the more the merrier though!

For some of us, including myself, EDS affects the digestive system. It can cause a variety of problems there including delayed gastric emptying, otherwise known as gastroparesis. Continue reading

The Types of EDS

If you’ve read my page ‘What is EDS?‘ you’ll have learned that there are 7 main types of Ehlers-Danlos. Each type is a distinct disorder and can be traced to a slightly different mutation relating to the production or usage of collagen within the body with the exception of the Hypermobile Type for which the faulty gene has as yet has not been isolated. EDS types “run true” in a family. This means that an individual with Vascular EDS will not normally have a child with Classical Type EDS.
EDS types are defined according to the signs and symptoms that are manifested, in a set of major and minor diagnostic criteria for each type. I have included the table of criteria further down this post.

The seven main types are:

  • Classical (old types I & II)
    This type is distinguished by it’s extensive skin involvement. Marked skin hyperextensibility (stretchy skin), soft velvety texture with widened paper-like scars and joint hypermobility. When all diagnostic criteria are met this type is 90% due to a mutation in type 5 collagen. Some people however have a clinical diagnosis of Classical type and have an as yet unknown gene.
  • Hypermobile (old type III/3)
    The most common form of Ehlers-Danlos, most people with EDS have this type. It’s not actually all that rare but it is very much mis &under-diagnosed.
    Joint hypermobility is the dominant symptom in this type with recurring subluxations and dislocations being common. Skin may have some mild involvement eg. velvety texture and easy bruising but is rarely as stretchy as in the Classical Type. Many patients suffer chronic pain. This type when severe is frequently disabling and can produce milder forms of the symptoms more usually associated with other types.
    dnaNo genetic cause has been located as yet but the syndrome however a small sub-population of less than 10% have been shown to have Tenascin-X deficiency (TNXB gene). Hypermobile Type is inherited following a dominant pattern.
    There is some discussion in the medical community as to whether Joint Hypermobility Syndrome may be a milder form of Hypermobile EDS. I agree that some patients with a JHS diagnosis almost certainly do have EDS but others really do not. They have acquired or bio-mechanical hypermobility meaning the JHS diagnosis is still required. Doctors just need to learn to separate out those with connective tissue problems from those without.
  • Vascular (old type IV/4)
    This is generally regarded as the most serious form of EDS and is the only form of EDS that can affect life expectancy. Arterial/venous and organ fragility is the hallmark of this type and unfortunately many people do not discover that they have it until they suffer a serious rupture or worse. This type often has few outward signs other than extensive bruising after only minor traumas and thin skin which reveals the pattern of the vasculature. Clinicians used to think that Vascular type patients all had a particular look to them but as more people have been diagnosed this has turned out not to be true (information from Dr. Brad Tinkle). This type is caused by mutations on the gene for type 3 collagen.
  • Kyphoscoliosis (old type VI/6)
    This type is marked out by a progressive scoliosis, sufferers are hypermobile and often have extremely low muscle tone from birth which can affect gross motor skills.  This type is the result of a deficiency of lysylhydroxylase (caused by a mutation on the PLOD gene) which is a collagen-modifying enzyme and is inherited in a recessive pattern.
  • Arthrochalasia (old type VIIa&b/7a&b)
    This type is marked out by congenital (at birth) bilateral (both sides) hip dislocation and short stature. Generalised hypermobility with recurrent subluxations and dislocations, scoliosis and skin manifestations.Individuals with this type are very rare, there are less than 50 known cases worldwide, it is caused by mutations to type 1 collagen.
  • Dermatosparaxis (old type VIIc/7c)
    This type is characterised by sagging, redundant skin. The skin is very fragile but wounds heal normally unlike in the Classical Type. Patients bruise very easily. This is another very rare type with not many cases reported worldwide. It is caused by a mutation on the ADAMTS-2 gene which produces pro-collagen peptidase, an enzyme that aids in the processing of type I pro-collagen.
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1997 Villefranche Criteria for EDS

Since the types were last classified at Villefranche in 1997 some more types have been described but their names are not yet official and there are no set diagnostic criteria to help doctors diagnose them.
Examples of these syndromes include progeroid type (B4GALT7 gene), musculocontractural type  (CHST14 gene) and spondylocheirodyplastic type.
Prior to 1997 the types were classified with numbers shown as roman numerals rather than names, some people and doctors still use these old classification numbers.

I hope this post has been helpful in explaining the wide variety of EDS types. Each type can be expressed on a spectrum from mild through to severe. Why some patients are more greatly affected than others is sometimes due to the form of their mutation as in the Vascular type but is usually unknown.

If you have any questions please do pop them in the comments and I’ll do my best to answer them but remember I am just a patient not a doctor or geneticist!

Why the Zebra?

You will have noticed the zebras on my blog, maybe you just thought “whoa that girl sure likes zebras!” or maybe you’ve wondered what the connection was between beauty and zebras or ‘bendiness’ (my way of referring to the hypermobility aspect of EDS) and zebras.

Well wonder no more because now I shall explain the connection! People with EDS identify as either ‘bendies’ or ‘zebras’ and the zebra is the EDS mascot because:

stock-illustration-27847948-zebra-running-through-the-dust“When you hear hoofbeats think horses, not zebras”

In America medical school students are often taught this phrase. The phrase is a way of saying that the most common cause of those symptoms is likely the culprit, don’t take bets on diagnosing rare, weird, or wonderful diseases just because you want it to be that. Most of the time this approach works really well, but sometimes a genuine medical zebra comes along and is then misdiagnosed with something common –  even a whole collection of unconnected common ailments – or worse, left completely undiagnosed and untreated.

Through awareness of Ehlers-Danlos we hope that one day doctors will be able to see the signs that they’re no longer in Kansas, but rather out on the plains of the savannah where a zebra is the one most likely to be causing those hoofbeats.

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Zebras exist.

It’s EDS Awareness Month!

Media Pack

May the 1st is the start of Ehlers-Danlos Syndrome awareness month!

Media Pack

Throughout May I’ll be doing posts about EDS. I’l be covering the different types of EDS, where the zebra comes from, fibromyalgia awareness day, the HMSA and their work with all of the hypermobility causing syndromes, and I hope to have a guest post from a friend with one of the rarer types of EDS for you too!

You know your condition needs more awareness when most doctors have never heard of it! I nearly always have to spell it for a new doctor and I’ve had doctors Google it on their iPhones in front of me.

If you have EDS, do you have anything planned for May awareness?