Ehlers-Danlos, could i have this?

Question

Hello, I am suffering from very stiff and painful joints and it seems to be all my joints, ie my shoulders, hands, wrists, fingers, neck, elbows hips, knees, ankles, toes. Its not just my joints though. My back hurts all the time especially when i breath. I went and saw a rhumatologist back in march and they said i had hypermobile joint syndrome.

The pain has definitely got a lot worse since march. I also bruise very very easy, ie i only have to scratch myself and i get a bruise appear.

I definitely think there is something more to it than just hypermobile joints and wondered if if could be Ehlers-Danlos.

I have a follow up appointment with the rhumatologist in October but i just wondered if anyone thinks i should go back to my doctors before then. I really hurt al the time and I'm fed up with it now. Some please help me. THANK YOU!!

Also when i go to my gp, what should i say. She is very hard to talk to and approach, ie she makes me feel like im making it up.

Answer 1

Yes, you may have it (EDS).  You may have some other disease that cause you to bruise easily.  I would be asked to be referred to a geneticist.  It is easier to diagnose EDS by symptoms, than to do genetic testing.  I geneticist would be able to look at your symptoms and give you a differential diagnosis.  Do you have a family history of this?  If you have EDS, there is a chance you could pass it on to your children.  Here is some information from www.genetests.org:

Disease characteristics. Ehlers-Danlos syndrome (EDS), classic type is a connective tissue disorder characterized by skin hyperextensibility, abnormal wound healing, and joint hypermobility. It includes two previously designated subtypes (EDS type I and EDS type II) that are now recognized to form a continuum of clinical findings. The skin is smooth, velvety to the touch, and hyperelastic; i.e., it extends easily and snaps back after release (unlike lax, redundant skin, as in cutis laxa). The skin is fragile, as manifested by splitting of the dermis following relatively minor trauma, especially over pressure points (knees, elbows) and areas prone to trauma (shins, forehead, chin). Wound healing is delayed, and stretching of scars after apparently successful primary wound healing is characteristic. Complications of joint hypermobility, such as dislocations of the shoulder, patella, digits, hip, radius, and clavicle, usually resolve spontaneously or are easily managed by the affected individual. Other features include hypotonia with delayed motor development, fatigue and muscle cramps, and easy bruising. Less common findings include mitral and tricuspid valve prolapse, aortic root dilatation, and spontaneous rupture of large arteries.

Diagnosis/testing. The diagnosis of EDS, classic type is established by family history and clinical examination. Quantitative and qualitative studies of type V collagen chains are usually not useful in confirming a diagnosis. Approximately 50% of individuals with classic EDS have an identifiable mutation in COL5A1 or COL5A2, the genes encoding type V collagen. Sequence analysis of both genes and COL5A1 null allele testing are available on a clinical basis.

Management. Treatment of manifestations: Children with hypotonia and delayed motor development benefit from physiotherapy. Non-weight-bearing exercise promotes muscle strength and coordination. Anti-inflammatory drugs may alleviate joint pain. Those with hypotonia, joint instability, and chronic pain may need to adapt lifestyles accordingly. Dermal wounds are closed without tension, preferably in two layers. For other wounds, deep stitches are applied generously; cutaneous stitches are left in place twice as long as usual; and the borders of adjacent skin are carefully taped to prevent stretching of the scar. Cardiovascular problems are treated in a standard manner. Prevention of primary manifestations: Young children with skin fragility can wear pads or bandages over the forehead, knees, and shins to avoid skin tears. Older children can wear soccer pads or ski stockings with shin padding during activities. Ascorbic acid (vitamin C) may reduce bruising. Surveillance: yearly echocardiogram when aortic dilatation and/or mitral valve prolapse are present. Agents/circumstances to avoid: acetylsalicylate; sports that strain joints.

Genetic counseling. EDS, classic type is inherited in an autosomal dominant manner. It is estimated that approximately 50% of affected individuals have inherited the disease-causing mutation from an affected parent, and approximately 50% of affected individuals have a de novo disease-causing mutation. Each child of an affected individual has a 50% chance of inheriting the mutation. Prenatal testing for pregnancies at increased risk may be possible for families in which the disease-causing mutation has been identified in an affected family member.

I hope it all works out for you.  :)