Wednesday, August 27, 2014

EDS Article About How The Body With EDS Does It's Thing.


Knowing that it is EDS helps, but it still doesn't answer all the questions, but I guess that is not so uncommon in life.  

Knowing anything about Ehlers Danlos helps me feel better about what is going on in my body and what is making life so hard at times and even though just knowing might not fix anything, it does give me a peace of mind some how. 

I think others might feel the same as I do so I want to share an article that I found about EDS that was surprising to me. I love to learn new things and stuff and I am glad to find this article because now I have more info to research. I love to do research!!! 

I haven't researched much about the info in the article yet, but it is interesting and it will give me something to do for awhile and then I will post my findings to share with you. 

The way that I found this article is by researching trying to find which proteins were not used in people with EDS and this popped up...... 
So here is the article:
http://www.ncbi.nlm.nih.gov/pubmed/9524359

Lysyl oxidase: properties, regulation and multiple functions in biology.

Abstract

Lysyl oxidase (LO) is a copper-dependent amine oxidase that plays a critical role in the biogenesis of connective tissue matrices by crosslinking the extracellular matrix proteins, collagen and elastin. Levels of LO increase in many fibrotic diseases, while expression of the enzyme is decreased in certain diseases involving impaired copper metabolism. While the three-dimensional structure of the enzyme is not yet available, many of its physical-chemical properties, its novel carbonyl cofactor, and its catalytic mechanism have been described. Lysyl oxidase is synthesized as a preproprotein, secreted as a 50 kDa, N-glycosylated proenzyme and then proteolytically cleaved to the 32 kDa, catalytically active, mature enzyme. Within the past decade, the gene encoding LO has been cloned, facilitating investigations of the regulation of expression of the enzyme in response to diverse stimuli and in numerous disease states. Transforming growth factor-beta, platelet-derived growth factor, angiotensin II, retinoic acid, fibroblast growth factor, altered serum conditions, and shear stress are among the effectors or conditions that regulate LO expression. New, LO-like genes have also been identified and cloned, suggesting the existence of a multigene family. It has also become increasingly evident that LO may have other important biological functions in addition to its role in the crosslinking of elastin and collagen in the extracellular matrix.
PMID: 9524359 [PubMed - indexed for MEDLINE]        
                  

Hopefully this will peak your interest and if you do research be sure and share it with the rest of us so we can maybe learn more about why our bodies are sooooo.... well, the way they are.

Wednesday, March 19, 2014

This is the story of my life! No one has every 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 learning 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 is you suffer with 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


Summary

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 fragility of the capillaries and the perivascular connective tissues. Vascular fragility affecting medium-sized and large arteries and veins is 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. Haematological 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 haemophilia 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 is 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 haematomas, 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. 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).

To view the rest of the article please copy the link below and paste it into the address bar:

www.onlinelibrary.wiley.com/doi/10.1111/j.1365-2141.2004.05220.x/full