Type IV Ehlers-Danlos Syndrome

A subtype of Ehlers-Danlos syndrome (EDS) characterized by vascular pathologies, e.g., AORTIC DISSECTION in addition to common EDS findings, e.g., hyperextensible skin and joints, skin fragility and reduced wound healing capability. It is associated with mutations in collagen type III alpha 1 chain gene (COLLAGEN TYPE III).

Also Known As:

Ehlers-Danlos Syndrome, Type IV; EDS IV; Ehlers Danlos Syndrome Type 4, Autosomal Dominant; Ehlers Danlos Syndrome, Arterial Type; Ehlers Danlos Syndrome, Ecchymotic Type; Ehlers Danlos Syndrome, Sack-Barabas Type; Ehlers-Danlos Syndrome, Arterial Type; Ehlers-Danlos Syndrome, Ecchymotic Type; Ehlers-Danlos Syndrome, Sack-Barabas Type; Ehlers-Danlos Syndrome, Type IV, Autosomal Dominant; Ehlers-Danlos Syndrome, Vascular Type; Ehlers Danlos Syndrome, Sack Barabas Type; Ehlers-Danlos Syndrome, Vascular; Ehlers-Danlos Syndromes, Vascular; Syndrome, Vascular Ehlers-Danlos; Syndromes, Vascular Ehlers-Danlos; Type IV Ehlers Danlos Syndrome; Vascular Ehlers Danlos Syndrome; Vascular Ehlers-Danlos Syndromes; Vascular Ehlers-Danlos Syndrome; Vascular Type Ehlers-Danlos Syndrome

Networked: 267 relevant articles (4 outcomes, 16 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Varicose Veins (Varicose Vein)
2.	Hematoma
3.	Type IV Ehlers-Danlos Syndrome
4.	Osteogenesis Imperfecta (Lobstein Disease)
5.	Ehlers-Danlos Syndrome (Syndrome, Ehlers-Danlos)

Experts

1.	Germain, Dominique P: 6 articles (01/2019 - 05/2002)
2.	Frank, Michael: 5 articles (05/2022 - 07/2013)
3.	Byers, Peter H: 5 articles (11/2019 - 10/2004)
4.	Boutouyrie, Pierre: 4 articles (04/2020 - 03/2004)
5.	Byers, P H: 4 articles (11/2009 - 03/2000)
6.	Schwarze, U: 4 articles (11/2009 - 03/2000)
7.	Schwarze, Ulrike: 4 articles (06/2008 - 08/2002)
8.	Takeda, Norifumi: 3 articles (09/2022 - 08/2019)
9.	Colombi, Marina: 3 articles (05/2022 - 10/2012)
10.	Ghali, Neeti: 3 articles (05/2022 - 08/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Type IV Ehlers-Danlos Syndrome:

1.	Celiprolol (ST1396)IBA 06/25/2023 - "Improvement in Quality of Life Following Celiprolol Hydrochloride Administration in a Patient with Vascular Ehlers-Danlos Syndrome: A Case Report." 10/30/2010 - "Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial." 01/01/2021 - "Celiprolol Treatment in Patients with Vascular Ehlers-Danlos Syndrome." 09/01/2017 - "The largest investigation of celiprolol in vascular Ehlers-Danlos syndrome was prematurely terminated due to significant benefit with celiprolol in reducing arterial events in patients with this condition. " 10/30/2010 - "We suggest that celiprolol might be the treatment of choice for physicians aiming to prevent major complications in patients with vascular Ehlers-Danlos syndrome. "
2.	Collagen Type III (Type III Collagen)IBA 01/01/1995 - "Early studies showed that fibroblasts from EDS IV patients secreted lower than normal amounts of type III procollagen (Pope et al., 1975). " 04/01/1981 - "These studies indicate that decreased secretion of type III procollagen that is synthesized can result in the clinical syndrome of type IV Ehlers-Danlos syndrome." 01/01/1980 - "Biochemical and immunological studies of fibroblasts derived from a patient with Ehlers-Danlos syndrome type IV. Demonstrate reduced type III collagen synthesis." 01/01/2024 - "Vascular Ehlers-Danlos syndrome (vEDS) is a severe connective tissue disorder caused by dominant mutations in the COL3A1 gene encoding type III collagen (COLLIII). " 02/01/2023 - "Ehlers-Danlos type IV or vascular Ehlers-Danlos syndrome (vEDS) is a rare inherited disorder characterized by profound vascular fragility resulting from defective production of type III procollagen. "
3.	CollagenIBA 12/01/1996 - "Pulmonary complications are described in a case of Ehlers-Danlos syndrome type IV, established by studies of collagen biosynthesis. " 07/01/1995 - "A sporadic case of Ehlers-Danlos syndrome type IV: diagnosed by a morphometric study of collagen content." 12/01/1980 - "Lung collagen in type IV Ehlers-Danlos syndrome: ultrastructural and biochemical studies." 01/01/2023 - "Here, we generate fibrous, collagen-rich ECM from primary donor cells from patients with vascular Ehlers-Danlos syndrome (vEDS), a disease caused by mutations in the gene that encodes collagen III. We observe that ECM grown from vEDS patients is characterized by unique mechanical signatures, including altered viscoelastic properties. " 12/01/2021 - "Four decades in the making: Collagen III and mechanisms of vascular Ehlers Danlos Syndrome."
4.	Glycine (Aminoacetic Acid)FDA LinkGeneric 06/01/2003 - "Biochemical study in cultured fibroblasts and molecular analysis of the COL3A1 gene led to the diagnosis of EDS-IV. A glycine substitution, p.G883V, within the triple helix of the alpha 1(III) chain, was found in the index patient and in the mother. " 01/01/1997 - "A glycine (415)-to-serine substitution results in impaired secretion and decreased thermal stability of type III procollagen in a patient with Ehlers-Danlos syndrome type IV." 01/01/1994 - "Single-strand conformation polymorphism (SSCP) analysis of the COL3A1 gene detects a mutation that results in the substitution of glycine 1009 to valine and causes severe Ehlers-Danlos syndrome type IV." 05/15/1993 - "Single base mutation that substitutes glutamic acid for glycine 1021 in the COL3A1 gene and causes Ehlers-Danlos syndrome type IV." 01/01/1992 - "A COL3A1 glycine 1006 to glutamic acid substitution in a patient with Ehlers-Danlos syndrome type IV detected by denaturing gradient gel electrophoresis."
5.	Proteins (Proteins, Gene)FDA Link 01/01/2021 - "Vascular Ehlers-Danlos syndrome (vEDS) is a heritable connective tissue disorder caused by defects in the type III collagen protein. " 12/01/2019 - "Type III collagen is the major protein in the walls of blood vessels and hollow organs; it is decreased in patients with vascular Ehlers-Danlos syndrome (EDS). " 03/01/2003 - "Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile." 04/01/1981 - "Cultured dermal fibroblasts from a woman with one variety of type IV Ehlers-Danlos syndrome synthesized type III procollagen but fail to secrete the bulk of the protein. " 11/01/2011 - "The Ehlers-Danlos syndrome type IV (EDS-IV) is a hereditary, autosomal dominant disease that causes a defect in the procollagen III synthesis, which results in a structural modification in this protein. "
6.	Collagen Type I (Type I Collagen)IBA 01/01/1991 - "This model, originally derived from studies of type I collagen defects in osteogenesis imperfecta and Ehlers Danlos syndrome type VII, has been modified and extended by recent correlations of type II collagen defects with several chondrodysplasias and of type III collagen defects with Ehlers Danlos syndrome type IV. From analysis of the skeletal dysplasias, the pathogenic role of fibrillar collagen defects in more common clinical entities has been suggested and awaits rigorous proof. " 10/01/2004 - "Osteogenesis imperfecta results from mutations in type I collagen, Ehlers-Danlos syndrome type IV from mutations in type III collagen, Alport syndrome from mutations in type IV collagen, and dystrophic epidermolysis bullosa from mutations in type VII collagen. " 04/01/2008 - "Mutations in the major fibrillar collagen genes lead to osteogenesis imperfecta (COL1A1 and COL1A2 encoding the chains of Type I collagen), chondrodysplasias (COL2A1 encoding the chains of Type II collagen), and vascular Ehlers-Danlos syndrome (COL3A1 encoding the chains of Type III collagen). " 09/01/1993 - "Recent advances in the molecular analysis of EDS have identified defects responsible for EDS IV (mutations in the type III collagen gene), EDS VI (homozygous and compound heterozygous mutations in the lysyl hydroxylase gene), EDS VIIA and VIIB (mutations in the type I collagen genes), EDS VIIC (deficiency of procollagen N-proteinase), and EDS IX (decreased lysyl oxidase activity). " 02/01/1976 - "Thus far, the primary heritable disorders of collagen metabolism in man include lysyl hydroxylase deficiency in Ehlers-Danlos syndrome type VI, p-collagen peptidase deficency in Ehlers-Danlos syndrome type VII, decreased synthesis of type III collagen in Ehlers-Danlos syndrome type IV, lysyl oxidase deficency in S-linked cutis laxa and Ehlers-Danlos syndrome type V, and decreased synthesis of type I collagen in osteogenesis imperfecta."
7.	Cyanogen BromideIBA 07/01/1991 - "We have studied a patient with Ehlers-Danlos syndrome type IV. Protein mapping studies of her type III collagen had indicated that cyanogen bromide fragment 9 contained the site of the mutation. " 10/05/1990 - "These losses account for the resistance of EDS-IV collagen to cyanogen bromide and mammalian collagenase digestion. " 08/01/1993 - "Here we have characterised the most amino-terminal glycine substitution so far described in a patient with EDS IV. A combination of peptide mapping and chemical cleavage analysis of cDNA localised the mutation in cyanogen bromide peptide CB5. "
8.	Collagen Type II (Type II Collagen)IBA 01/01/1991 - "This model, originally derived from studies of type I collagen defects in osteogenesis imperfecta and Ehlers Danlos syndrome type VII, has been modified and extended by recent correlations of type II collagen defects with several chondrodysplasias and of type III collagen defects with Ehlers Danlos syndrome type IV. From analysis of the skeletal dysplasias, the pathogenic role of fibrillar collagen defects in more common clinical entities has been suggested and awaits rigorous proof. " 04/01/2008 - "Mutations in the major fibrillar collagen genes lead to osteogenesis imperfecta (COL1A1 and COL1A2 encoding the chains of Type I collagen), chondrodysplasias (COL2A1 encoding the chains of Type II collagen), and vascular Ehlers-Danlos syndrome (COL3A1 encoding the chains of Type III collagen). "
9.	Fibrillar CollagensIBA 01/01/1991 - "This model, originally derived from studies of type I collagen defects in osteogenesis imperfecta and Ehlers Danlos syndrome type VII, has been modified and extended by recent correlations of type II collagen defects with several chondrodysplasias and of type III collagen defects with Ehlers Danlos syndrome type IV. From analysis of the skeletal dysplasias, the pathogenic role of fibrillar collagen defects in more common clinical entities has been suggested and awaits rigorous proof. " 04/01/2008 - "Mutations in the major fibrillar collagen genes lead to osteogenesis imperfecta (COL1A1 and COL1A2 encoding the chains of Type I collagen), chondrodysplasias (COL2A1 encoding the chains of Type II collagen), and vascular Ehlers-Danlos syndrome (COL3A1 encoding the chains of Type III collagen). "
10.	Ligases (Synthetase)IBA 03/15/1994 - "These linkage relationships should prove useful in further studies of Ehlers-Danlos syndrome type IV and carbamyl phosphate synthetase I deficiency and provide an additional framework for localizing other genes in this region."

Therapies and Procedures

1.	Therapeutics 08/02/2023 - "In this report, we describe a case of perforation of the sigmoid colon due to SAIM accompanied by vascular Ehlers-Danlos syndrome (vEDS), which was successfully treated by surgical therapy. " 01/01/2021 - "Medical Therapy Affects the Arteriopathy of Vascular Ehlers-Danlos Syndrome." 12/01/2020 - "Multivessel endovascular therapy for undiagnosed vascular type Ehlers-Danlos syndrome. " 11/01/2009 - "Understanding the genotype-phenotype correlation may influence the choice of therapy offered to patients with EDS IV." 10/01/1996 - "EDS-IV patients with vascular complications should be treated with nonoperative therapy and noninvasive imaging techniques when possible. "
2.	Conservative Treatment 01/01/2021 - "Successful Conservative Management of a Rare Surgical Complication of Vascular Ehlers-Danlos Syndrome: A Case Report." 08/16/2013 - "Conservative management of small bowel perforation in Ehlers-Danlos syndrome type IV." 01/01/2021 - "We report an extra-pleural hematoma in a patient with vascular Ehlers-Danlos syndrome, an unusual complication treated successfully with conservative management." 01/01/2015 - "We report a case of monozygotic twins 37 years old men with occasional evidence of bullous emphysema with previously undiagnosed Ehlers-Danlos syndrome type IV. We emphasize the importance of considering uncommon genetic causes of emphysema in young adults, discuss underlining pathophysiological mechanisms and propose a conservative management and follow-up. "
3.	Laser Therapy (Surgery, Laser) 08/01/2015 - "Open varicose vein surgery has been reported as being hazardous in the past in a patient with Ehlers Danlos syndrome type IV. Our experience has shown that endovenous laser ablation, transluminal occlusion of perforator and ultrasound guided foam sclerotherapy appear to be effective in treating this patient with Ehlers Danlos syndrome type IV, although phlebectomies were technically impossible. " 08/01/2015 - "She was subsequently diagnosed as Ehlers Danlos syndrome type IV. A duplex ultrasound scan 18 months post-endovenous laser ablation and transluminal occlusion of perforator and 11 months after ultrasound guided foam sclerotherapy confirmed successful closure with virtual atrophy of all treated veins. "
4.	Sclerotherapy 08/01/2015 - "Open varicose vein surgery has been reported as being hazardous in the past in a patient with Ehlers Danlos syndrome type IV. Our experience has shown that endovenous laser ablation, transluminal occlusion of perforator and ultrasound guided foam sclerotherapy appear to be effective in treating this patient with Ehlers Danlos syndrome type IV, although phlebectomies were technically impossible. " 08/01/2015 - "She was subsequently diagnosed as Ehlers Danlos syndrome type IV. A duplex ultrasound scan 18 months post-endovenous laser ablation and transluminal occlusion of perforator and 11 months after ultrasound guided foam sclerotherapy confirmed successful closure with virtual atrophy of all treated veins. "
5.	Stents 05/01/2021 - "Preservation of Posterior Tibial Artery Flow Following Dissection With Associated Aneurysmal Degeneration in Ehlers-Danlos Syndrome Type IV Treated With Flow-Diverting Stent." 05/01/2021 - "We present a case of an EDS-IV patient with a posterior tibial artery dissection with associated aneurysm successfully treated with Flow Diversion stent (FDS) preserving vessel patency and excluding the aneurysm. " 12/01/2018 - "Anterior tibial artery rupture treated using covered stent in a patient with vascular Ehlers-Danlos syndrome." 01/01/2008 - "It also shows that a dissecting pseudoaneurysm can feasibly be treated with a covered stent and that closure is effective using Angioseal in patients with EDS IV." 01/01/2007 - "We describe a case of a 57-year-old man with EDS-IV and an expanding iliac aneurysm who underwent successful endovascular repair with a stent-graft. "