We would like to give you sufficient information on Ehler Danlos Syndrome which is carried by an autosomal dominant gene and its most common variant called hypermobility type is associated with Dysautonomia.
Ehlers-Danlos Syndrome (EDS) is a group of inherited connective tissue disorders, caused by a defect in the synthesis of collagen (a protein in connective tissue). Connective tissue helps support the skin, muscles, ligaments and organs of the body. Depending on the individual mutation, the severity of the syndrome can vary from mild to life-threatening. There is no known cure. Treatment is supportive.
Patients with Ehlers-Danlos Syndrome have a chronic, progressive, generalized form of dysautonomia in the setting of central nervous system degeneration, leading to a generally poor long-term prognosis.Dysautonomia is a broad term that describes any disease or malfunction of the autonomic nervous system. This includes postural orthostatic tachycardia syndrome (POTS), vasovagal syncope, mitral valve prolapse dysautonomia, pure autonomic failure, Neurocardiogenic syncope (NCS), Neurally Mediated Hypotension (NMH) autonomic instability and a number of lesser-known disorders such as cerebral salt-wasting syndrome.
EDS has many forms and its hypermobility form is most common variant of the disease .
It is autosomal dominant, i.e you are effected in some form or even your husband and it goes to your children as this is a dominant gene and it is expressed.
Mutations in either of two separate genes may lead to this variant. Diagnosis is made primarily on clinical observations. The major signs and symptoms include:
Loose, unstable joints that are prone to: sprains, dislocations, subluxations (partial dislocations), hyperextension (double jointedness)
High and narrow palate, usually resulting in dental crowding
Muscle weakness, often made worse by cold weather
Early onset of osteoarthritis (usually develops in mid-30s)
Cardiac effects: some degree of Dysautonomia or Valvular heart disease (such as mitral valve prolapse, which creates an increased risk for infective endocarditis during surgery, as well as possibly progressing to a life-threatening degree of severity of the prognosis of mitral valve prolapse)
Other, less common symptoms and complications can include:
Osteopenia (low bone density)
Deformities of the spine, such as: Scoliosis (curvature of the spine), Kyphosis (a thoracic hump), Tethered spinal cord syndrome,Vascular skin conditions: Raynaud's phenomenon
Premature rupture of membranes during pregnancy
The pain associated with this condition is a serious complication.
So now as you can understant that EDS is a syndrome and some of its symptoms are present in you (POTS, labour problems) as these are expressed but you seem to pass it on to your children(tethered cord, hypermobile joints) where some other signs and symptoms are expressed.
Your husband if he has some signs or symptoms of EDS then you can suspect. Being autosomal dominant he should have some signs or symptoms and it is not possible that he is only a carrier. So, if he has no signs or symptoms then he is a not suffering from EDS nor a carrier of the gene.
Take care and come back to us with further queries.
I want to add here the hypermobility type which is the most common is Autosomal dominant, and these are the symptoms you were mentioning in your children.
Inheritance patterns depend on the type of Ehlers-Danlos syndrome. Most forms of the condition are inherited in an autosomal dominant pattern, which means only one of the two copies of the gene in question must be altered to cause the disorder. The minority are inherited in an autosomal recessive pattern, which means both copies of the gene must be altered for a person to be affected by the condition. It can also be an individual mutation.
Many thanks for your reply.
The information you have given me is very informative. My children have been refered to clinical Genetics and are awaiting an appointment, I will print this and take this with me, I hope you do not mind.
My brother has two children. The first is 14 and shows no symptoms of this syndrome, but his baby (4 months) also has blue sclera but is to young for us to notice any joint hypermobility. Apart from the mentioned people their is no family history of this or other relating syndromes, could this be a gene mutation that myself and my brother aquired/inherited? He shows no signs or symptoms of EDS or dysautonomia.
Do all patients with hypermobility EDS develop a form of dysautonomia?
I greatly appreciate your help with this. I am still being investigated for POTS and other causes are being looked at. I had a negative experience with an endocrinologist whom asked me about my childrens health/family history. I answered my 3 girls were hypermobile and were being investigated for EDS, his response was to 'tug' at the skin on my kneck and state I didn't have it and if I did have it would't be connected to the autonomic disturbances I have been experiencing.
I am so glad I posted my question here and recieved your knowledgeable and precise reply. I, with the help of this board, and my good dr's will get to the bottom of mine and my childrens health concerns. I was in hospital myself for 7 weeks with a complex and undiagnosed illness. POTS is now suspected (positive tilt test), an adrenal tumour was found - (but has been found to be non - functioning) and celiac disease was diagnosed. Maybe, if my children are found to have EDS this will add a new direction for my doctors to look into for me.
Thank you and Kind Regards
If your brother is a carrier then he might be having this gene as an autosomal recessive. This is less common but remember this is a possibility. Then he will not suffer and it might not probably be hypermobility types.(There are other types of Ehler Danlos) He will pass it on to his child thou....
The other cause is he might still be autosomal dominant but the disease has not expressed itself. It is always good for him and his child to go for routine medical check up. There is no guarantee that all the symptoms and signs will be expressed. Some people have full blown and some minimum.
Yes if your parents and your forefathers did not suffer from any symptoms of Ehler Danlos then this points towards point mutation of the gene which might have taken place somewhere in the lineage.
The clinical genetics department is the best for you and your brother to sort out how exactly it happened and who is a carrier and for whom dominant gene expressed in their body and this will make it easy for the treatment and future course of actions.
You surely can carry a print out of this as this is just the knowledge what we have and some things are quoted from medical text books we follow. There are Physicians who are experts in Ehler Danlos Syndrome who in their daily life treat many cases as experts and they would be more helpful to you for treatment and follow up.
Come back to us with further queries!
Many thanks. I have just recieved a call regarding an appintment and it has been scheduled for the 9th sept. I will post the outcome and any course of action we plan.
I have recieved a copy of some blood tests I had taken in may.
Levels for Cardiolipin AB's - Anti CL IgM were 39 MPLU/ML (normal 0-10) were flagged as high.
Underneath the results it states:
'high levels of cardiolipin Abs are associated with a wide range of haematological/connective tissue disorders. Repeat testing and LAC testing is recommended.'
I was told this could indicate Antiphospholipid syndrome. I have had no further testing. Could this be related to any other connective tissue disorder - or even EDS?