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Diseases of the Aorta
Published in Mary N. Sheppard, Practical Cardiovascular Pathology, 2022
Laboratory diagnosis involves the demonstration of structurally abnormal Type III collagen produced by fibroblasts, and demonstration of an abnormal COL3A1 gene. The problem with this disease is the fragility of the blood vessels, so surgery is very high risk. Use of endovascular stents in these patients with smaller sheaths and the advent of lower profile devices may minimize these risks.
Stroke and Transient Ischemic Attacks of the Brain and Eye
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
Ehlers–Danlos syndrome type IV, the vascular type, results from mutations in the gene for type III procollagen (COL3A1). It is a rare connective tissue disorder inherited as an autosomal dominant trait, characterized mainly by arterial dissection, intracranial aneurysm, and the spontaneous rupture of large- and medium-sized arteries, and a gravid uterus or intestines. Carotid intima media thickness is one-third lower and circumferential wall stress 40% higher than in matched controls. The higher circumferential wall stress is probably a major risk factor for the dissection and rupture of fragile arterial tissue.
Vascular Disease and Dissection in Pregnancy
Published in Afshan B. Hameed, Diana S. Wolfe, Cardio-Obstetrics, 2020
Vascular Ehlers-Danlos syndrome (EDS) (type IV) is inherited in an autosomal dominant pattern related to mutations in the COL3A1 gene. Patients with EDS are at high risk of early death due to arterial, intestinal, and uterine rupture. Arterial complications occur in an unpredictable manner, even without arterial dilatation, and surgical repair is challenging due to the friable nature of the vascular tissue. Vascular EDS poses a high risk of obstetric complications, and deaths can occur from arterial dissection or uterine rupture. In a study of 81 pregnancies, 12 women died (14.8%) [19]. A subsequent study of 565 pregnancies reported arterial dissection in 9.2%, uterine rupture in 2.6%, and maternal deaths in 6.5% [20]. Other obstetric complications in women with all types of EDS include separation of the symphysis pubis, severe postpartum hemorrhage, and preterm delivery. Pregnancy is considered contraindicated in women with vascular EDS due to the high risk of mortality, but shared decision making is essential, and women who choose to pursue pregnancy should be followed by a multidisciplinary team at a specialized center [20,21].
Atypical presentation of forearm compartment syndrome in a case of vascular type Ehlers–Danlos syndrome
Published in Case Reports in Plastic Surgery and Hand Surgery, 2023
Tsang Yeung, Ching San Esther Chow
Ehlers–Danlos syndrome (‘EDS’) is a group of hereditary connective tissue disorders, caused by various defects in the synthesis of collagen. Its overall prevalence lies between 1 in 10,000 to 25,000 in the general population [1]. EDS has different subtypes. Type IV or the vascular type Ehlers–Danlos Syndrome (‘vEDS’), described by Andras Barbaras [2] in 1967, consists of 5 to 10% of EDS [1]. It is due to pathogenic variants in COL3A1 gene and it is inherited in an autosomal dominant manner. Due to defects in type III collagen, body tissues and organs of patients with vEDS are fragile. Signs of vEDS include: characteristic facial appearance (thin vermilion of lips, small chin, thin nose, large eyes), acrogeria (skin on the hands and feet appears prematurely aged) and thin translucent skin [3]. In a majority of patients, the diagnosis was only made when there is at least one major complication happened, which is defined as arterial rupture, dissection or organ rupture, like sigmoid colon perforation and perforated gravid uterus The risk of having complication at age of 20 is 25% and rises to more than 80% by age of 40. The average age at the time of the first major complication was 23.5 years old. Median life expectancy of patient with vEDS is 48 years [4].
Rough endoplasmic reticulum expansion: a consistent finding in a patient cohort with vascular Ehlers-Danlos Syndrome and Osteogenesis Imperfecta
Published in Ultrastructural Pathology, 2021
Melody G Redman, Bart E Wagner, Sophie Cadden, Duncan Baker, Jessica M Bowen, Diana Johnson, Glenda Sobey, Meena Balasubramanian
In the past, transmission electron microscopy of skin biopsies was routinely performed on patients clinically suspected to have vEDS. At present, molecular genetics using genomic DNA extracted from a blood sample is the first line investigation in such situations, due to decreasing costs of genomic screening and easier access to such testing. COL3A1 was first described in relation to vEDS in 19884 and is involved in the synthesis and function of type III collagen. Type III collagen is an extracellular matrix protein, crucial to the structure of blood vessels and hollow organs.5 Where COL3A1 variants are not identified or the diagnosis is complex, EM may be performed to analyze for ultrastructural findings frequently associated with vEDS, such as an increase in collagen fibril diameter variability. Deviation root mean square of normal collagen fibril diameters is 8 nm + or – 2 nm whilst in vEDS it can be up to 20 nm + or – 6 nm focally.6,7
Effect of leukocytes included in platelet concentrates on cell behaviour
Published in Platelets, 2019
Tomas Puidokas, Mantas Kubilius, Arturas Stumbras, Gintaras Juodzbalys
A cell migration analysis of HBMSCs has shown that the presence of leukocytes reduced the migration of the mentioned cells. Osteogenic differentiation is less effective as well [38]. Yin et al. [37] also ran a study on chondrocytes. The authors indicated that leukocytes counteract cartilage cells by decreasing the expression of cartilage-specific proteins, such as Col II (type II collagen), SOX9 (transcription factor), and ACAN (aggrecan) [37]. Cavallo et al. [25] also observed a reduction of Col II and aggrecan expression in cells treated with a leukocyte-rich platelet concentrate. Nevertheless, adding leukocytes to the platelet concentrate enhanced cartilage cell proliferation [25]. Considering the effect on synoviocytes, a down-modulation of HGF and metalloproteinase inhibitor 4 (TIMP-4) was observed when a leukocyte-rich platelet concentrate was used. These molecules act as anti-catabolic mediators [40]. Leukocyte enrichment was even described as providing a cytotoxic effect to synoviocytes [42]. A study of gingival fibroblasts and osteoblasts under inflammatory conditions showed decreased cell proliferation in the presence of white blood cells [52]. Tendon cells’ exposure to leukocyte-rich platelet concentrate provoked downregulation of cell metabolism. This was evaluated by measuring the concentrations of collagen type I and collagen type III alpha 1 chain genes (COL1A1, COL3A1), which were reduced when white blood cells were present. Collagen is related to proteins such as decorin and fibronectin. These proteins were also downregulated due to leukocyte’s presence [35].