Wednesday, March 19, 2014

This is the story of my life! No one has ever heard of what it is that is making me feel so bad. My question is, "Just because YOU haven't heard of it, does that make it untrue?"
Before I was diagnosed with Ehlers Danlos I had never heard of that either and believe me EDS is very true and very real!  
This is an article about bleeding and bruising in patients with Ehlers Danlos and other collagen vascular disorders, something that many people, meaning doctors, have never heard of because they don't know what EDS is so therefore, they don't take me seriously when I try to explain that we have to check and watch out for certain things. 

I hope you will learn more about some of the problems that EDSer's deal with and if nothing else, you will be more informed next time you go to the doctor if you suffer from EDS.  

Bleeding and bruising in patients with Ehlers–Danlos syndrome and other collagen vascular disorders
Anne De Paepe and
Fransiska Malfait
Article first published online: 20 OCT 2004
DOI: 10.1111/j.1365-2141.2004.05220.x


Easy bruising and bleeding are not only characteristic manifestations of clotting and platelet disorders, they are also prominent features in some heritable collagen disorders, such as the Ehlers–Danlos syndromes (EDS). The EDS comprise a heterogeneous group of connective tissue diseases sharing clinical manifestations in skin, ligaments and joints, blood vessels and internal organs. Most EDS subtypes are caused by mutations in genes encoding the fibrillar collagens type I, III and V, or in genes coding for enzymes involved in the post-translational modification of these collagens. Easy bruising is, to a variable degree, present in all subtypes of EDS, and is because of the fragility of the capillaries and the perivascular connective tissues. Vascular fragility affecting medium-sized and large arteries and veins are typically observed in the vascular subtype of EDS, caused by a molecular defect in collagen type III, an important constituent of blood vessel walls and hollow organs. Extensive bruising, spontaneous arterial rupture, leading to severe internal bleeding or premature death, and rupture of hollow organs, such as the intestine or the gravid uterus are predominant features of this subtype. Hematological studies including evaluation of clotting factors, platelet aggregation and bleeding time are usually normal in patients with EDS, except for the Hess test (Rumple–Leede test), which may be abnormal, indicating capillary fragility. In some forms of EDS confirmation of the clinical diagnosis and subtype is possible with biochemical and molecular studies.

Excessive bruising and an increased bleeding diathesis are important features of many disorders of coagulation and/or platelets, such as hemophilia A and B, and von Willebrand disease, and the many disorders of platelet number and function. They can, however, be prominently present in another group of diseases, the heritable collagen disorders, a heterogeneous group of genetic diseases that are caused by mutations in structural collagen genes or in genes coding for enzymes involved in their post-translational modification. Although individually rare disorders, together they represent an important category among the heritable disorders of connective tissue. Whereas the prototype collagen type I disorder Osteogenesis Imperfecta (OI) or ‘brittle bone disease’ mainly affects the hard connective tissues, the Ehlers–Danlos syndromes (EDS) typically affect soft connective tissues. The EDS comprise a clinically and genetically heterogeneous group of conditions of which the main features are skin hyperextensibility, joint hypermobility, easy bruising, and generalized connective tissue fragility (Steinman et al, 2002). Prominent bruising and bleeding are seen in all subtypes of EDS (Table I). There is, however, a wide range of severity in bleeding diathesis, comprising mild to severe bruising, subcutaneous hematomas, bleeding of the gums, and life-threatening internal bleeding because of arterial rupture. ‘Easy bruising’, which means the tendency to develop ecchymoses either spontaneously or upon minimal trauma, is seen in all subtypes of EDS and can be explained by capillary fragility. The fragility of medium-sized and large arteries and veins is seen typically in the vascular subtype of EDS (EDS type IV) and occasionally in the rare kyphoscoliotic subtype (EDS type VI).

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