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Ehler Danlos Type 3

Andrew E Neice, Eryn E Stubblefield, Glenn E Woodworth, Michael F Aziz
STUDY OBJECTIVE: Ehlers-Danlos syndrome (EDS) is an inherited disease characterized by defects in various collagens or their post translational modification, with an incidence estimated at 1 in 5000. Performance of peripheral nerve block in patients with EDS is controversial, due to easy bruising and hematoma formation after injections as well as reports of reduced block efficacy. The objective of this study was to review the charts of EDS patients who had received peripheral nerve block for any evidence of complications or reduced efficacy...
September 2016: Journal of Clinical Anesthesia
Daniele Cazzato, Marco Castori, Raffaella Lombardi, Francesca Caravello, Eleonora Dalla Bella, Antonio Petrucci, Paola Grammatico, Chiara Dordoni, Marina Colombi, Giuseppe Lauria
OBJECTIVE: To investigate the involvement of small nerve fibers in Ehlers-Danlos syndrome (EDS). METHODS: Patients diagnosed with EDS underwent clinical, neurophysiologic, and skin biopsy assessment. We recorded sensory symptoms and signs and evaluated presence and severity of neuropathic pain according to the Douleur Neuropathique 4 (DN4) and ID Pain questionnaires and the Numeric Rating Scale (NRS). Sensory action potential amplitude and conduction velocity of sural nerve was recorded...
July 12, 2016: Neurology
Wuyan Chen, Ashley F Perritt, Rachel Morissette, Jennifer L Dreiling, Markus-Frederik Bohn, Ashwini Mallappa, Zhi Xu, Martha Quezado, Deborah P Merke
Some variants that cause autosomal-recessive congenital adrenal hyperplasia (CAH) also cause hypermobility type Ehlers-Danlos syndrome (EDS) due to the monoallelic presence of a chimera disrupting two flanking genes: CYP21A2, encoding 21-hydroxylase, necessary for cortisol and aldosterone biosynthesis, and TNXB, encoding tenascin-X, an extracellular matrix protein. Two types of CAH tenascin-X (CAH-X) chimeras have been described with a total deletion of CYP21A2 and characteristic TNXB variants. CAH-X CH-1 has a TNXB exon 35 120-bp deletion resulting in haploinsufficiency, and CAH-X CH-2 has a TNXB exon 40 c...
September 2016: Human Mutation
Inge De Wandele, Lies Rombaut, Tine De Backer, Wim Peersman, Hellen Da Silva, Sophie De Mits, Anne De Paepe, Patrick Calders, Fransiska Malfait
OBJECTIVE: To investigate whether orthostatic intolerance (OI) is a significant predictor for fatigue in Ehlers-Danlos Syndrome, hypermobility type (EDS-HT). METHODS: Eighty patients with EDS-HT and 52 controls participated in the first part of the study, which consisted of questionnaires. Fatigue was evaluated using the Checklist Individual Strength (CIS). As possible fatigue determinants OI [Autonomic Symptom Profile (ASP)], habitual physical activity (Baecke), affective distress [Hospital Anxiety and Depression Scale (HADS)], pain (SF36), medication use and generalized hypermobility (5-point score of Grahame and Hakim regarding generalized joint hypermobility) were studied...
August 2016: Rheumatology
Konakanchi Venkatachalam, Kavya Chennamsetty
Elastosis perforans serpiginosa (EPS), characterized by transepidermal elimination of fragmented elastic fibers, clinically presents as hyperkeratotic papules. EPS is classified into three types: (1) Idiopathic; (2) reactive, with associated connective tissue diseases such as pseudoxanthoma elasticum (PXE), Ehlers-Danlos syndrome, cutis laxa, Marfan syndrome, osteogenesis imperfecta, Down's syndrome; (3) the one that is induced by D-penicillamine. A rare association of EPS with PXE, which is primarily a defect of transmembrane transporter protein with accumulation of certain metabolic compounds and secondary calcification of elastic fibers has been documented in the literature...
March 2016: Indian Dermatology Online Journal
Ki M Mak, Chien Yi M Png, Danielle J Lee
Type V collagen (COLV) is a regulatory fibril-forming collagen. It has at least three different molecular isoforms-α1(V)2 α2(V), α1(V)3, and α1(V)α2(V)α3(V)-formed by combinations of three different polypeptide α chains-α1(V), α2(V), and α3(V). COL V is a relatively minor collagen of the extracellular matrix (ECM). Morphologically, COLV occurs as heterotypic fibrils with type I collagen (COLI), microfilaments, or 12-nm-thick fibrils. COLV is synthesized in various mesenchymal cells and its gene expression is modulated by TGF-β and growth factors...
May 2016: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
Elise Christine Johannessen, Helle Sundnes Reiten, Helene Løvaas, Silje Maeland, Birgit Juul-Kristensen
Purpose To investigate shoulder function, pain and Health-Related Quality of life (HRQoL) among adults with joint hypermobility syndrome/Ehlers-Danlos syndrome-hypermobility type (JHS/EDS-HT), compared with the general population (controls). Method In a cross-sectional study using postal survey, 110 patients diagnosed with JHS/EDS-HT and 140 gender- and age-matched healthy controls from Statistics Norway participated. Shoulder function, pain and HRQol were registered by Western Ontario Shoulder Instability Index (WOSI), Numerical Rating Scale (NRS), pain drawings, 36-item Short Form (SF-36)...
July 2016: Disability and Rehabilitation
Frank M Davis, Jonathan L Eliason, Santhi K Ganesh, Neal B Blatt, James C Stanley, Dawn M Coleman
OBJECTIVE: Pediatric arterial aneurysms are extremely uncommon. Indications for intervention remain poorly defined and treatments vary. The impetus for this study was to better define the contemporary surgical management of pediatric nonaortic arterial aneurysms. METHODS: A retrospective analysis was conducted of 41 children with 61 aneurysms who underwent surgical treatment from 1983 to 2015 at the University of Michigan. Arteries affected included: renal (n = 26), femoral (n = 7), iliac (n = 7), superior mesenteric (n = 4), brachial (n = 3), carotid (n = 3), popliteal (n = 3), axillary (n = 2), celiac (n = 2), ulnar (n = 2), common hepatic (n = 1), and temporal (n = 1)...
February 2016: Journal of Vascular Surgery
Eric E Roselli, Jay J Idrees, Ashley M Lowry, Khalil Masabni, Edward G Soltesz, Douglas R Johnston, Vidyasagar Kalahasti, Eugene H Blackstone, Joseph F Sabik, Bruce W Lytle, Lars G Svensson
BACKGROUND: Improvements in care have prolonged survival of patients with connective tissue disorders (CTDs), but their entire native aorta remains at risk. Little data are available to guide treatment. Objectives were to characterize patients, describe repair methods, and assess outcomes. METHODS: From 1996 to 2012, 527 patients with CTDs underwent cardiovascular operations. Beyond the root, arch and descending repair was performed in 121 patients (23%) for aneurysm (n = 17), acute complicated dissection (n= 5), or chronic dissection with aneurysmal degeneration (n = 99)...
March 2016: Annals of Thoracic Surgery
Samantha Aliza Hershenfeld, Syed Wasim, Vanda McNiven, Manasi Parikh, Paula Majewski, Hanna Faghfoury, Joyce So
Ehlers-Danlos syndromes (EDS) are a heterogeneous group of hereditary connective tissue disorders characterized by joint hypermobility, widespread musculoskeletal pain and tissue fragility. Psychiatric disorders and psychosocial impairment are common, yet poorly characterized, findings in EDS patients. We investigated the frequency and types of psychiatric disorders and their relationship to systemic manifestations in a cohort of 106 classic and hypermobility type EDS patients. In this retrospective study, extensive medical chart review was performed for patients referred at two genetics clinics who were diagnosed with EDS...
March 2016: Rheumatology International
Mark C Scheper, Janneke E de Vries, Jeanine Verbunt, Raoul Hh Engelbert
Generalized joint hypermobility (GJH) is highly prevalent among patients diagnosed with chronic pain. When GJH is accompanied by pain in ≥4 joints over a period ≥3 months in the absence of other conditions that cause chronic pain, the hypermobility syndrome (HMS) may be diagnosed. In addition, GJH is also a clinical sign that is frequently present in hereditary diseases of the connective tissue, such as the Marfan syndrome, osteogenesis imperfecta, and the Ehlers-Danlos syndrome. However, within the Ehlers-Danlos spectrum, a similar subcategory of patients having similar clinical features as HMS but lacking a specific genetic profile was identified: Ehlers-Danlos syndrome hypermobility type (EDS-HT)...
2015: Journal of Pain Research
Tristan Mirault, Mathieu Pernot, Michael Frank, Mathieu Couade, Ralph Niarra, Michel Azizi, Joseph Emmerich, Xavier Jeunemaître, Mathias Fink, Mickaël Tanter, Emmanuel Messas
OBJECTIVES: Arterial stiffness is related to age and collagen properties of the arterial wall and can be indirectly evaluated by the pulse wave velocity (PWV). Ultrafast ultrasound imaging, a unique ultrahigh frame rate technique (>10, 000 images/s), recently emerged enabling direct measurement of carotid PWV and its variation over the cardiac cycle. Our goal was to characterize the carotid diastolic-systolic arterial stiffening using ultrafast ultrasound imaging in healthy individuals and in vascular Ehlers-Danlos syndrome (vEDS), in which collagen type III is defectuous...
September 2015: Journal of Hypertension
Christopher M Larson, Rebecca M Stone, Emma F Grossi, M Russell Giveans, Geoffrey D Cornelsen
PURPOSE: To present outcomes in a series of patients with Ehlers-Danlos syndrome (EDS)-hypermobility type who underwent hip arthroscopy for associated hip pain and extreme capsular laxity. METHODS: A retrospective chart review identified 16 hips with confirmed EDS--hypermobility type that underwent hip arthroscopy for continued pain and capsular laxity. All patients had complaints of "giving way" and pain, an easily distractible hip with manual traction under fluoroscopy, and a patulous capsule at the time of surgery...
December 2015: Arthroscopy: the Journal of Arthroscopic & related Surgery
Arick C Park, Charlotte L Phillips, Ferris M Pfeiffer, Drew A Roenneburg, John F Kernien, Sheila M Adams, Jeffrey M Davidson, David E Birk, Daniel S Greenspan
Null alleles for the COL5A1 gene and missense mutations for COL5A1 or the COL5A2 gene underlie cases of classic Ehlers-Danlos syndrome, characterized by fragile, hyperextensible skin and hypermobile joints. However, no classic Ehlers-Danlos syndrome case has yet been associated with COL5A2 null alleles, and phenotypes that might result from such alleles are unknown. We describe mice with null alleles for the Col5a2. Col5a2(-/-) homozygosity is embryonic lethal at approximately 12 days post conception. Unlike previously described mice null for Col5a1, which die at 10...
July 2015: American Journal of Pathology
S Donkervoort, C G Bonnemann, B Loeys, H Jungbluth, N C Voermans
Joint hypermobility is the defining feature of various inherited connective tissue disorders such as Marfan syndrome and various types of Ehlers-Danlos syndrome and these will generally be the first conditions to be considered by geneticists and pediatricians in the differential diagnosis of a patient presenting with such findings. However, several congenital and adult-onset inherited myopathies also present with joint hypermobility in the context of often only mild-to-moderate muscle weakness and should, therefore, be included in the differential diagnosis of joint hypermobility...
March 2015: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
Francesca Puledda, Alessandro Viganò, Claudia Celletti, Barbara Petolicchio, Massimiliano Toscano, Edoardo Vicenzini, Marco Castori, Guido Laudani, Donatella Valente, Filippo Camerota, Vittorio Di Piero
Joint hypermobility syndrome (JHS) and Ehlers-Danlos syndrome, hypermobility type (EDS-HT) are two clinically overlapping heritable connective tissue disorders strongly associated with musculoskeletal pain, fatigue and headache. Migraine with or without aura is considered the most common form of headache in JHS/EDS-HT. In this population of chronically ill patients, we investigated whether migraine characteristics were different from those of a control population of migraine patients. The study was carried out on 33 selected JHS/EDS-HT patients, diagnosed according to current criteria...
August 2015: Neurological Sciences
Michael Frank, Juliette Albuisson, Brigitte Ranque, Lisa Golmard, Jean-Michael Mazzella, Laurence Bal-Theoleyre, Anne-Laure Fauret, Tristan Mirault, Nicolas Denarié, Elie Mousseaux, Pierre Boutouyrie, Jean-Noël Fiessinger, Joseph Emmerich, Emmanuel Messas, Xavier Jeunemaitre
Vascular Ehlers-Danlos syndrome (vEDS) is a rare and severe autosomal dominant disorder caused by variants at the COL3A1 gene. Clinical characteristics and course of disease of 215 molecularly proven patients (146 index cases and 69 relatives) were analysed. We found 126 distincts variants that were divided into five groups: (1) Glycine substitutions (n=71), (2) splice-site and in-frame insertions-deletions (n=36), (3) variants leading to haplo-insufficiency (n=7), (4) non-glycine missense variants within the triple helix (n=4 variants), and (5) non-glycine missense variants or in-frame insertions-deletions, in the N- or C-terminal part of the protein (n=8)...
December 2015: European Journal of Human Genetics: EJHG
Marco Castori, Silvia Morlino, Giulia Ghibellini, Claudia Celletti, Filippo Camerota, Paola Grammatico
Ehlers-Danlos syndrome (EDS) is an umbrella term for a growing group of hereditary disorders of the connective tissue mainly manifesting with generalized joint hypermobility, skin hyperextensibility, and vascular and internal organ fragility. In contrast with other well known heritable connective tissue disorders with severe cardiovascular involvement (e.g., Marfan syndrome), most EDS patients share a nearly normal life span, but are severely limited by disabling features, such as pain, fatigue and headache...
March 2015: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
Monica Bogni, Alessandra Bassotti, Giuseppe Leocata, Francesco Barretta, Amelia Brunani, Pier Alberto Bertazzi, Luciano Riboldi, Luisella Maria Vigna
BACKGROUNDS: In Europe 23.5% of the working-age population suffers from chronic or rare diseases, including Ehlers-Danlos syndrome (EDS), an inherited disorder of the connective tissue that frequently leads to impairment also at work. OBJECTIVES: We sought to evaluate the impairment of different functional areas in EDS subjects, using EDS-Disability Test (EDS-DT) (7 visual analogical scales: pain, stiffness, daily activities of life, in the home, outside the home, at work, in social relationships)...
January 2015: La Medicina del Lavoro
Mathias Bech Møller, Michael Kjær, René Brüggebusch Svensson, Jesper Lovind Andersen, Stig Peter Magnusson, Rie Harboe Nielsen
BACKGROUND: tendon and skeletal muscle function adapts to physical training of resistive nature, but it is unknown to what extent persons with genetically altered connective tissue - who have a higher than normal tendon extensibility - will obtain any effect upon their tendon and muscle when undergoing muscle strength training. We investigated patients with classical Ehlers Danlos Syndrome (EDS) (collagen type V defect) who display articular hypermobility, skin extensibility and tissue fragility...
July 2014: Muscles, Ligaments and Tendons Journal
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