Vascular ehlersdanlos syndrome genetic and rare diseases. Of the eds subtypes, 12 can be confirmed with genetic testing. The diagnosis of ehlersdanlos syndrome, vascular type, also known as eds type iv, is suspected on the basis of clinical findings and a family history consistent with autosomal dominant inheritance. Vascular eds causes severe fragility of connective tissues with arterial and gastrointestinal rupture, and complications of surgical and radiological interventions. Ehlersdanlos syndrome often causes overly flexible joints and stretchy, fragile skin. The diagnosis of hypermobile ehlers danlos syndrome heds remains a clinical one as the genetic basis is poorly. Vascular ehlers danlos syndrome is an autosomal dominant condition. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for vascular ehlersdanlos. Ehlersdanlos syndrome is a group of clinically and genetically heterogeneous heritable connective tissue disorders, and six types of ehlersdanlos syndromes are currently recognized. Longterm prognosis of patients with ehlersdanlos syndrome. The vascular category is usually the harshest form of ehlers danlos syndrome or eds plus it is frequently connected with a reduced lifespan. In a trauma situation do not assume that your eds patient has been typed correctly.
Ehlers danlos syndrome heds this diagnostic checklist is for doctors across all disciplines to be able to diagnose eds patient name. There is little research available regarding pregnancies in. Ehlersdanlos syndrome can affect the skin, joints, and blood vessels. Genetic testing for a change mutation in the col3a1 gene usually or the col1a1 gene rarely can be ordered to confirm the diagnosis. Aneurysms and dissections are not unique to vascular ehlers danlos syndrome and may be seen in other connective tissue disorders, such as marfan syndrome and loeysdietz. Spectrum of facial features in individuals with vascular ehlersdanlos syndrome veds shows. Collagen is a protein that provides structure and strength to connective tissues throughout the body. Seven clinical types of this disease have been identified and the underlying biochemical defects defined in types iv through vii. These defects affect the soft connective tissues resulting in abnormalities. A case with fatal outcome paulo morais 1,2, alberto mota 1,2, catarina eloy 3, jose manuel lopes 2,3,4, fatima torres 5, aida palmeiro 5, purificacao tavares 5, filomena azevedo 1 dermatology online journal 17 4. Ehlers danlos syndrome vascular type, the only lethal form, is rarely reported in dermatology literature. A diagnosis of vascular ehlersdanlos syndrome is typically based on the. Vascular ehlers danlos syndrome or eds affected individuals have a medium life expectation of 48 years moreover majority will have a. Connective tissue is responsible for supporting and structuring the skin, blood vessels.
Vascular manifestations of type iv ehlersdanlos syndrome. Diagnosis, natural history, and management in vascular ehlers danlos syndrome peter h. Hypermobility of the temporomandibular jaw joint can result in dislocations, facial and head pain. Vascular ehlersdanlos syndrome, also known as ehlersdanlos syndrome type iv, is a lifethreatening inherited disorder of connective tissue, resulting from mutations in the col3a1 gene coding for type iii procollagen. The term ehlersdanlos syndrome eds encompasses a group of inherited connective tissue disorders. Vascular ehlersdanlos syndrome veds a german physician named georg sack first recognized it in 1936 and named it status dysvascularis. The eds support uk website has more information about the different types of eds. Vascular ehlersdanlos syndrome the ehlersdanlos support uk. Vascular ehlersdanlos syndrome veds is characterized by thin, translucent skin. Each subtype is a separate and different condition. Aug 21, 2019 the vascular category is usually the harshest form of ehlers danlos syndrome or eds plus it is frequently connected with a reduced lifespan. Since then, other names have been used to describe it.
Diagnosis, natural history, and management in vascular. Eds vascular is a lifethreatening connective tissue disorder that affects all tissue, arteries and internal. Arterial complications of vascular ehlersdanlos syndrome matthew j. Oct, 2017 some people with ehlers danlos syndrome will have overly flexible joints, but few or none of the skin symptoms. Vascular ehlersdanlos syndrome eds is a relatively rare genetic syndrome that occurs owing to disorders in the metabolism of.
Complications may include aortic dissection, joint dislocations, scoliosis, chronic pain, or early osteoarthritis eds occurs due to variations of more than 19. Vascular eds previously known as ehlersdanlos type iv is a rare type of ehlersdanlos syndrome caused by an alteration, also known as a mutation in the col3a1 gene. Diagnostic criteria for hypermobile ehlersdanlos syndrome. Pdf ehlersdanlos syndrome, classic type researchgate. Emergency information about vascular eds is always available from the red emergency button at the top right on ehlers danlos. Ehlersdanlos syndrome eds is an umbrella diagnosis for six connective tissue disorders that are due to abnormal collagen. Vascular ehlersdanlos syndrome 7, 10, 11 vascular eds veds is an autosomal dominant eds caused by mutations in the genes coding for type iii. Pdf ehlersdanlos syndrome vascular type ecchymotic. If you have problems viewing pdf files, download the latest version of adobe reader.
Vascular ehlersdanlos syndrome veds is characterized by arterial. Ehlersdanlos syndrome type iv, also known as the vascular type of ehlersdanlos syndromes eds, is an inherited disorder of connective tissue characterised by severe arterial and digestive complications which are rarely, if at all, observed in the other forms eds 1, 2. Ehlersdanlos disease, were misdiagnosed with fibromyalgia. Although considered rare, clinical diagnosis of eds vascular is often difficult. Ehlers danlos syndrome hypermobility type is a hereditary connective tissue disease characterized by generalized joint hypermobility, joint instability, skin changes and musculoskeletal pain. However, because the ehlers danlos syndromes are genetic disorders, primary care physicians often provide their patients with referrals to a geneticist. How do you get an ehlers danlos syndrome diagnosis.
A type v collagen defect was identified presently, at age 21 years, chronic pain in the back, shoulders and hands are the major subjective complaint and have led to temporary inability to perform his job fig. Familial acrogeria, sackbarabas syndrome, ehlersdanlos syndrome, type iv andor vascular type. Ehlersdanlos syndromes eds are a group of genetic connective tissue disorders. People with ehlersdanlos features need to see a doctor who knows about this and other connective tissue disorders for an accurate diagnosis. Eds passport with diagnosis and management plan for use when traveling, centralize management at centers. Annabelles challenge is a registered charity raising awareness of vascular ehlers danlos syndrome to help aid early diagnosis and prevent misdiagnosis of this lifethreatening genetic condition. Anxiety disorders and depression are commonly reported by people with hypermobile ehlers danlos syndrome. Nov 17, 2012 slapasmileon, you always provide such detailed and helpful information. Main types of ehlers danlos syndromes eds there are types of eds, most of which are very rare.
Ehlers danlos syndrome is a group of rare genetic disorders caused by a defect in collagen synthesis. Ehlersdanlos syndromes are inherited disorders estimated to occur in about one in 5,000 births worldwide. Ehlersdanlos syndrome eds is clinically and genetically a heterogenous disorder of connective tissue synthesis. Ehlersdanlos syndrome type iv orphanet journal of rare. Distributed by the clinical diagnosis of hypermobile eds needs the simultaneous presence of all criteria, 1 and 2 and 3. They provide help, support and advice to families affected by vascular eds. Vascular dissection or rupture, gastrointestinal perforation, or organ rupture are the presenting signs in the majority of adults identified to have veds. We would recommend that these factsheets be used as a guide to implement.
Other types of eds include classical eds, vascular eds and kyphoscoliotic eds. Apr 03, 2020 ehlers danlos syndrome eds is a group of heterogeneous connective tissue disorders involving the skin, organs, and joints. Aug 24, 2017 a diagnosis of vascular ehlers danlos syndrome is typically based on the presence of characteristic signs and symptoms. The diagnosis of vascular ehlersdanlos syndrome is based on an examination and identi. Symptoms may include loose joints, joint pain, stretchy velvety skin, and abnormal scar formation.
Genetic counseling is recommended for prospective parents with a family history of ehlersdanlos syndrome. Molecular diagnosis in vascular ehlersdanlos syndrome predicts. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. Rarely, it may be caused by a mutation in the col1a1 gene. The majority 60% of individuals with veds who are diagnosed.
A new ehlersdanlos syndrome with craniofacial characteristics, multiple congenital contracture, progressive joint and skin laxity, and multi system fragilityrelated manifestations. Col3a1 gene is the instruction for making collagen type iii a tough fibrelike protein that makes up a third of our body protein. The gene that causes vascular ehlers danlos syndrome is the col3a1 gene collagen, type iii, alpha 1. Vascular ehlersdanlos syndrome is a rare, inherited, connective tissue disorder caused by abnormalities in the formation of collagen, an important and the most abundant protein in the body. Ehlers danlos syndrome eds is an umbrella diagnosis for six connective tissue disorders that are due to abnormal collagen. In part, this is due to the medical systems philosophy of dealing with each symptom on an individual basis, relatively low physician awareness of ehlersdanlos syndrome, and the diversity of the eds. Ehlersdanlos syndrome, type 4 vascular dissection or rupture, gastrointestinal perforation, or organ rupture are the presenting signs in the majority of adults identified to have veds. People who have ehlers danlos syndrome, vascular type, often share distinctive facial features of a thin nose, thin upper lip, small earlobes and prominent eyes. The optimal management of vascular ehlers danlos syndrome requires a multidisciplinary approach with medical genetics, vascular surgery, radiology, and genetic counseling. Pdf ehlersdanlos syndrome eds, classic type is a connective tissue. Ehlersdanlos syndrome symptoms and causes mayo clinic. Eds vascular type iv trauma information the ehlers danlos. It is characterized by translucent, atrophic skin, easy bruising, arterial, intestinal.
Vascular eds causes severe fragility of connective tissues with arterial and gastrointestinal rupture, and complications of. Depending on the individual mutation, the severity of the disease can vary from mild to lifethreatening. For language access assistance, contact the ncats public information officer. Patients with eds type iv, most of whom display characteristic facial features and premature ageing of limb extremities. Vascular ehlers danlos is a more severe form of the disorder that affects blood vessels. Arterial complications of vascular ehlersdanlos syndrome. Celiprolol therapy for vascular ehlersdanlos syndrome, the lancet 376. Ehlersdanlos syndrome eds is a group of heterogeneous connective tissue disorders involving the skin, organs, and joints. When you have this disorder, you may be prone to dislocating joints and bruising easily. Vascular ehlersdanlos is a more severe form of the disorder that affects blood vessels. Initially, prevalence estimates ranged from one in 250,000 to 500,000 people, but these estimates were soon found to be too low, as more was studied about the disorders, and medical professionals became more adept at diagnosis.
Vascular ehlers danlos syndrome veds is an uncommon genetic disorders characterized by. Vascular ehlers danlos syndrome or eds affected individuals have a medium life expectation of 48 years moreover majority will have a main incident by age forty. Give your medical professionals a hand with this 2017 ehlersdanlos classification handout project echo information brochure pdf to inform your health professionals about the eds project echo program. Jul 23, 2016 ehlers danlos syndrome often causes overly flexible joints and stretchy, fragile skin. Vascular manifestations in patients with ehlersdanlos.
Diagnosis, natural history, and management in vascular ehlers. Most medical doctors should be able to diagnose eds and hsd. Some rare types of eds are characterised by cardiovascular problems the vascular type carries a risk of arterial rupture at a young age, and in cardiacvalvular eds there are severe progressive problems. The risk of aneurysms is possible due to arterial fragility. Ehlersdanlos syndrome eds is the term used for a group of relatively rare genetic disorders of connective tissue that are characterized by one or another of several features, including skin hyperextensibility, joint hypermobility, and tissue fragility. The genetic basis of many subtypes has now been elucidated, confirming heterogeneity. Ehlersdanlos syndrome is a group of rare genetic disorders caused by a defect in collagen synthesis. Nine years later, henrialexandre danlos described a triad of similar symptoms. When the yearold began experiencing abdominal pain and vomiting, his mother cathy drove him to the hospital. Ehlersdanlos syndrome is a group of genetic connective tissue disorders characterized by unstable, hypermobile joints, loose, stretchy skin, and fragile tissues. Ehlersdanlos syndrome eds is an inherited condition that affects the connective tissues in the body. Vascular ehlersdanlos syndrome uk registered charity.
If a diagnosis of vascular eds has been made then all immediate family members should be tested as soon as possible. The manifestations of eds can be seen in skin, joints, blood vessels and internal organs and vary from mild to severe and life threatening. Ong et al effect of celiprolol on prevention of cardiovascular events in vascular ehlersdanlos syndrome. Vascular ehlersdanlos syndrome february of 1996 was the beginning of the end for david bowen and his family. Vascular eds is considered the most serious subtype due to an increased risk for arterial or uterine rupture. Because most of them have a substantial wait i just saw dr. Affected parents should be aware of the type of ehlersdanlos syndrome they have and its mode of inheritance. Eds support group ved, we published a book entitled. An educators guide 5 excessive sun exposure should be avoided and sunscreen is recommended for outdoor activities.
Clinical diagnostic criteria established in 2017 malfait et al 2017 are useful to guide the approach to genetic testing. Sackbarabas syndrome is rare and has an estimated prevalence of 1 in 100,000 to 200,000. Vascular ehlers danlos syndrome is typically caused by a change mutation in the col3a1 gene. Vascular eds previously known as ehlers danlos type iv is a rare type of ehlers danlos syndrome caused by an alteration, also known as a mutation in the col3a1 gene. Most ehlersdanlos patients can have surgery genuinemystery 032920 anxiety which maybe all of us have andor inexperience can make people scared of surgery, and hearing that vascular eds patients are not surgery candidates can lead to mistaken overgeneralizing. Main types of ehlersdanlos syndromes eds there are types of eds, most of which are very rare. Craveswaves, if youre at all considering getting genetic testing, i definitely agree that you should see a geneticist who specializes in eds.
Dec 24, 2018 the diagnosis of vascular ehlers danlos syndrome is made by conducting a variety of exams including a physical examination, symptom assessment, evaluation of family medical history, collagen typing, imaging tests to identify heart abnormalities and aneurysms, and molecular genetic testing to ascertain gene mutations. Clinical reference manual vascular type the ehlers danlos. Most ehlers danlos patients can have surgery genuinemystery 032920 anxiety which maybe all of us have andor inexperience can make people scared of surgery, and hearing that vascular eds patients are not surgery candidates can lead to mistaken overgeneralizing. There, doctors diagnosed him with a perforation of the sigmoid colon with peritonitis. Give your medical professionals a hand with this 2017 ehlersdanlos classification handout project echo information brochure pdf to inform your health professionals about the.
Howard levy at hopkins for the first time last week he has an approximately 18. Fernandez ciscar, 5 46005 valencia gias subcutaneas. Bleeding and bruising in patients with ehlersdanlos syndrome and other collagen vascular. These can be noticed at birth or in early childhood. Type iii collagen, specifically, is found in tissues such. Various types of ehlers danlos syndromes can affect the teeth, gums and other oral structures. What is the cause of vascular ehlers danlos syndrome. Ehlers danlos syndrome eds is the term used for a group of relatively rare genetic disorders of connective tissue that are characterized by one or another of several features, including skin hyperextensibility, joint hypermobility, and tissue fragility. The ehlersdanlos syndrome, a disorder with many faces.
The col3a1 gene provides instructions for making a component of type iii collagen. Most ehlersdanlos patients can have surgery dailystrength. Vascular ehlersdanlos syndrome genetic and rare diseases nih. Pdf molecular diagnosis in vascular ehlersdanlos syndrome. Ehlersdanlos syndrome hypermobility type is a hereditary connective tissue disease characterized by generalized joint hypermobility, joint instability, skin changes and musculoskeletal pain.
Annabelles challenge is a registered charity raising awareness of vascular ehlersdanlos syndrome to help aid early diagnosis and prevent misdiagnosis of this lifethreatening genetic condition. The vascular type, formerly known as type iv or the arterialecchymotic type, is a rare autosomaldominant disorder resulting from a mutation in the col3a1 gene encoding for type iii procollagen synthesis. Give your medical professionals a hand with this 2017 ehlers danlos classification handout project echo information brochure pdf to inform your health professionals about the eds project echo program. Ehlersdanlos syndrome vascular type, the only lethal form, is rarely reported in dermatology literature. Joint hypermobility is common in the general population and often familial. Arterial rupture may be preceded by aneurysm, arteriovenous fistulae, or dissection but also may occur spontaneously. The process of diagnosis is long, tedious, and takes years because little consistent information about ehlersdanlos syndrome is out there.
A framework for the classification of joint hypermobility. Ehlersdanlos syndrome eds is the name given to a group of more than 10 different inherited disorders. Cardiovascular problems the ehlersdanlos support uk. He is coauthor of more than papers on international journals and 14 book.