Doctor insights on:
Is The Hypermobile Type Of Ehlers Danlos Disorder Constant In Families
Simple Response YES: Ehlers-danlos syndrome is a life-long condition that people are born with. It is caused by an abnormal gene. In most cases, people get ehlers-danlos syndrome when they get the abnormal gene from either their mother or father. Ehlers-danlos syndrome involves the body’s connective tissues, which are the tissues that make up and support the skin, bones, blood vessels, and other organs. ...Read more
Not really: Family history increases risk of having bd, but it does not change the presentation. By definition, people with bd have ups and down, usually interspersed with periods of normal mood. The ratio or ups versus downs often changes as people age, but not predictably. Some start with mostly manic episodes, others most depressed; many teens have "mixed" episodes with features of both mood states. ...Read more
How would a physician differentiate between benign hypermobility and the hypermobile type of ehlers-danlos syndrome?
See details: Benign hypermobility is just what the term implies. It is mild hypermobility similar to the most benign form of ehlers-danlos. The most severe forms of eds are distinguished by marked hypermobility of joint, significant hyperelasticity of skin and the increased risk of rupture of intestines and the aorta. ...Read more
EDS Type IV.: Ehlers-danlos syndrome type iv: blue sclerae. The benign finding of blue sclerae (the underlying choroid plexus showing through the translucent sclera) is seen in patients with heritable disorders of collagen: ehlers-danlos syndrome, marfan syndrome and osteogenesis imperfecta. ...Read moreSee 1 more doctor answer
Is their a gene specifically associated with the hypermobile form of ehleres- danlos syndrome? And is it one that is able to be tested ?
See geneticist!: Type 3: hypermobility form - ehlers-danlos is caused by an autosomal dominant or recessive mechanism. Mutations in either of two separate genes (which are also involved in vascular eds and tenascin-x deficiency eds, respectively) may lead to this variant. Tnxb sequencing or quantitative serum tenascin-x analysis or testing of eds-associated genes, especially col3a1can be done. ...Read moreSee 2 more doctor answers
What is the difference between ehlers-danlos syndrome hypermobility type 3 and double jointedness?
EDS-3 is formal Dx: Eds-3 is a formal diagnosis whereas the term double jointedness is a term used to describe someone with hyperlax joints. Hyperlaxity is a normal variant and is only worrisome if it results in pain or joint instability whereby the term is changed to patholaxity (pathologic joint laxity). ...Read more
I come from a family with a lot of hypermobility although there has been no diagnosis of Ehlers Danlos (EDS) yet. What's the likelihood that the rest of my family just has genetic hypermobility, and only I would develop vascular EDS de novo?
See below:: Ehlers–danlos syndrome (eds) is a group of inherited connective tissue disorders, caused by a defect in the synthesis of collagen (type i or iii). Marfan's syndrome is a genetic disorder of the connective tissue. People with marfan's tend to be unusually tall, with long limbs and long, thin fingers. It is caused by defects in a gene called fibrillin-1. ...Read more
Skin/joints stretch: In this disorder there is a deficiency of collagen in the body. Problems include skin hyperelasticity (very stretchy) and joint hypermobility ("double jointed"). Also those people affected have fragile skin and blood vessels. There are 6 forms of ehlers-danlos syndrome. ...Read moreSee 1 more doctor answer
Ehlers Danlos: At least 24 cases of bladder diverticula are reported since1942. All are male and range from 18months to 49 years with 80% presenting before 16 years. Urinary infection, dysuria, haematuria, abdominal mass, stones and bladder rupture are recognized presentations and it is seen with several types: several subtypes (i, ii, iii, iv, v, vi and ix). ...Read more
Would a diagnosis of the VASCULAR subtype of Ehlers-Danlos syndrome likely happen before age 35? Hypermobile family with no sudden deaths.
It can: I have seen it but it sounds unlikely in you. ...Read more
With ehlers danlos hypermobility and postural orthostatic tachycardia syndrome is there an increased risk of blood clots since blood can pool in limbs?
Yes: Not due to pooling of blood. There is one case report. An unusual presentation of ehlers-danlos syndrome vascular type with deep vein thrombosis: a case for multidisciplinary management. Authors lipinski mj, lipinski se, kripalani s, friesen ld, uthlaut bs, braddock sr. Journal am j med genet a. 2009 feb 15;149a(4):698-701. ...Read more
What is the difference between benign hyper mobile joint syndrome (dx'd by rheumy)and ehlers danlos . Have chronic joint/ muscle pain and fatigue. ?
Opposite spectrum: A connective tissue disease or CTD is any disease that has the connective tissues of the body as a target of pathology. Ehlers-Danlos Syndrome (EDS) is a severe type that has an actual series of gene mutations associated. It can be fatal. Hypermobile joint, fibromyalgia, chronic fatigue, these are debilitating and chronic but not likely fatal or nearly as life concerning as EDS. ...Read more
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