scholarly journals Gastric perforation leading to the diagnosis of classic Ehlers–Danlos syndrome: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Ahad E. Alotaibi ◽  
Ohood H. AlAamer ◽  
Mohammed A. Bawazeer ◽  
Ali A. Alzahrani
Keyword(s):  
Abdominal Pain ◽  
Connective Tissue ◽  
Bowel Perforation ◽  
Connective Tissue Diseases ◽  
Young Patients ◽  
Partial Gastrectomy ◽  
Contrast Extravasation ◽  
Ehlers Danlos Syndrome ◽  
Free Air ◽  
Danlos Syndrome

Abstract Background Ehlers–Danlos syndrome is a clinically and genetically heterogeneous group of heritable connective tissue disorders caused by a defect in collagen synthesis and structure. The vascular subtype (Ehlers–Danlos syndrome IV) is reported to be associated with a higher incidence of gastrointestinal perforations. The most reported site of perforation is the colon, followed by the small bowel. Perforation of the stomach is very rare, and there are no reported cases to date of classic types I and II. Case presentation We present the case of a 14-year-old Saudi girl who visited our emergency department with abdominal pain and vomiting. Initially, she was diagnosed with gastroenteritis and discharged once her condition stabilized. After 48 hours, she developed severe abdominal pain with recurrent vomiting and peritonitis evident on clinical examination. Initial abdominal x-ray failed to show any free air; however, enhanced computed tomography revealed free air and contrast extravasation in the proximal gut. During exploratory laparotomy, a large perforation was found on the anterior wall of the stomach due to the underlying ischemia. The posterior wall had ischemic mucosa with an intact healthy serosa. A free-hand partial gastrectomy was performed to resect all ischemic parts of the stomach. Detailed examinations and laboratory workup were carried out after the surgery to figure out the possible underlying cause. The clinical findings during the physical examination supported marfanoid features. Marfan’s syndrome and related disorders sequencing panel was requested, and Deoxyribonucleic acid (DNA) samples were sent. Given results were supporting the diagnosis of classical Ehlers–Danlos syndrome, the patient was labeled as a case of Ehlers–Danlos syndrome. During the postoperative period, she developed a wound infection that was managed successfully with vacuum-assisted closure dressing. She recovered well without gastrointestinal sequelae in the 4 years of follow-up. Conclusions Heritable systemic connective tissue diseases must be given serious consideration in young patients with unusual spontaneous perforation. Such patients might develop life-threatening conditions that require immediate intervention. Hence, correct and timely diagnosis is important to prepare for the anticipated complications.

scholarly journals Gastric Perforation Leading to The Diagnosis of Classic Ehlers Danlos syndrome: A Case Report of an Unusual Presentation.

2020 ◽  
Author(s):  
Ahad Eid Aloatibi ◽  
Ohood Hamad AlAamer ◽  
Mohammed Abdullah Bawazeer ◽  
Ali Audah Alzahrani
Keyword(s):  
Abdominal Pain ◽  
Connective Tissue ◽  
Gastric Perforation ◽  
Gastric Wall ◽  
Gastric Volvulus ◽  
Connective Tissue Diseases ◽  
Partial Gastrectomy ◽  
Type I ◽  
Ehlers Danlos Syndrome ◽  
Free Air

Abstract Background: Ehlers-Danlos syndromes (EDS) are a clinically and genetically heterogenous group of heritable connective tissue disorders caused by defective collagen synthesis or structure. Vascular subtype (EDS IV) is reported to be associated with higher incidence of gastrointestinal ruptures. The Most reported site of perforation was the colon particularly the sigmoid colon followed by small bowel. It is very rare to have stomach perforation. There were no reported cases among classic type I and II. In addition, this patient presented with Marfanoid habitus which may develop acute gastric volvulus in combined with pre-existing EDS, perforation can occur. Case presentation: We are presenting a 14-year-old girl who attended our Emergency Department (ED) with abdominal pain and vomiting. Initially diagnosed with gastroenteritis and discharged once her condition improved. 24 hours later, she developed severe abdominal pain with recurrent vomiting with peritonitis evident on clinical examination. Initial KUB failed to show any free air, however enhanced Computed Tomography (CT) revealed free air and proximal gut contrast extravasation. During exploratory laparotomy, an ischemia anterior and posterior gastric wall with gastric perforation was encountered. A free-hand partial gastrectomy was done. Her post-operative period was complicated with wound infection that managed successfully with Vacuum assisted closure (VAC) dressing. She recovered well without gastrointestinal sequalae in 4 years follow up. Conclusions: A high level of suspicion must be maintained for heritable systemic connective tissue diseases in any young patient with unusual spontaneous perforation. As these patients can develop life-threatening conditions, immediate intervention is required in addition to prepare for anticipated complications.

scholarly journals EP.FRI.719 Gastric Perforation Leading to The Diagnosis of Classic Ehlers Danlos syndrome: A Case Report of an Unusual Presentation

2021 ◽  
Vol 108 (Supplement_7) ◽  
Author(s):  
Ahad Alotaibi ◽  
Ohood AlAamer ◽  
Mohammed Bawazeer ◽  
Ali Alzahrani
Keyword(s):  
Abdominal Pain ◽  
Connective Tissue ◽  
Gastric Perforation ◽  
Gastric Wall ◽  
Gastric Volvulus ◽  
Connective Tissue Diseases ◽  
Partial Gastrectomy ◽  
Type I ◽  
Ehlers Danlos Syndrome ◽  
Free Air

Abstract Background Ehlers-Danlos syndromes (EDS) are clinically and genetically heterogeneous group of heritable connective tissue disorders caused by defective collagen synthesis or structure. Vascular subtype (EDS IV) is reported to be associated with a higher incidence of gastrointestinal ruptures. The Most reported site of perforation was the colon particularly the sigmoid colon followed by small bowel. It is very rare to have stomach perforation. There were no reported cases among classic type I and II. In addition, this patient presented with Marfanoid habitus which may develop acute gastric volvulus in combined with pre-existing EDS, perforation can occur. Case description A 14-year-old girl attended our Emergency Department (ED) with abdominal pain and vomiting. Initially diagnosed with gastroenteritis and discharged once her condition improved. 24 hours later, she developed severe abdominal pain with recurrent vomiting with peritonitis evident on clinical examination. Initial KUB failed to show any free air, however, enhanced Computed Tomography (CT) revealed free air and proximal gut contrast extravasation. During exploratory laparotomy, an ischemia anterior and posterior gastric wall with gastric perforation was encountered. A free-hand partial gastrectomy was done. Her post-operative period was complicated with wound infection that managed successfully with Vacuum-assisted closure (VAC) dressing. She recovered well without gastrointestinal sequelae in 4 years follow up.   Conclusions A high level of suspicion must be maintained for heritable systemic connective tissue diseases in any young patient with unusual spontaneous perforation. As these patients can develop life-threatening conditions, immediate intervention is required in addition to prepare for anticipated complications.

scholarly journals Hereditary Connective Tissue Diseases in Young Adult Stroke: A Comprehensive Synthesis

2011 ◽  
Vol 2011 ◽  
pp. 1-18 ◽  
Author(s):  
Olivier M. Vanakker ◽  
Dimitri Hemelsoet ◽  
Anne De Paepe
Keyword(s):  
Connective Tissue ◽  
Metabolic Disorders ◽  
Type Iv Collagen ◽  
Connective Tissue Diseases ◽  
Haemorrhagic Stroke ◽  
Monogenic Disease ◽  
Connective Tissue Disorders ◽  
Ehlers Danlos Syndrome ◽  
Type Iv ◽  
Danlos Syndrome

Though the genetic background of ischaemic and haemorrhagic stroke is often polygenetic or multifactorial, it can in some cases result from a monogenic disease, particularly in young adults. Besides arteriopathies and metabolic disorders, several connective tissue diseases can present with stroke. While some of these diseases have been recognized for decades as causes of stroke, such as the vascular Ehlers-Danlos syndrome, others only recently came to attention as being involved in stroke pathogenesis, such as those related to Type IV collagen. This paper discusses each of these connective tissue disorders and their relation with stroke briefly, emphasizing the main clinical features which can lead to their diagnosis.

scholarly journals Neurovascular manifestations of connective-tissue diseases: A review

2016 ◽  
Vol 22 (6) ◽  
pp. 624-637 ◽  
Author(s):  
Sarasa T Kim ◽  
Waleed Brinjikji ◽  
Giuseppe Lanzino ◽  
David F Kallmes
Keyword(s):  
Connective Tissue ◽  
Treatment Options ◽  
Connective Tissue Diseases ◽  
Neurofibromatosis Type ◽  
Cerebrovascular Diseases ◽  
Connective Tissue Disorders ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome ◽  
Heritable Connective Tissue Disorders

Patients with connective tissue diseases are thought to be at a higher risk for a number of cerebrovascular diseases such as intracranial aneurysms, dissections, and acute ischemic strokes. In this report, we aim to understand the prevalence and occurrences of such neurovascular manifestations in four heritable connective tissue disorders: Marfan syndrome, Ehlers-Danlos syndrome, Neurofibromatosis Type 1, and Loeys-Dietz syndrome. We discuss the fact that although there are various case studies reporting neurovascular findings in these connective tissue diseases, there is a general lack of case-control and prospective studies investigating the true prevalence of these findings in these patient populations. Furthermore, the differences observed in the manifestations and histology of such disease pathologies encourages future multi-center registries and studies in better characterizing the pathophysiology, prevalence, and ideal treatment options of neurovascular lesions in patents with connective tissue diseases.

Connective tissue diseases: pseudoxanthoma elasticum, anetoderma, and Ehlers-Danlos syndrome in pregnancy

2006 ◽  
Vol 24 (2) ◽  
pp. 91-96 ◽  
Author(s):  
Marcia Ramos-e-Silva ◽  
Ana Líbia Cardozo Pereira ◽  
Gustavo Bastos Oliveira ◽  
Sueli Coelho da Silva Carneiro
Keyword(s):  
Connective Tissue ◽  
Connective Tissue Diseases ◽  
Pseudoxanthoma Elasticum ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome ◽  
In Pregnancy

scholarly journals SAT0515 COMPLEX HYPERMOBILITY EHLERS-DANLOS SYNDROME (HEDS): MAPPING THE PATIENT’S JOURNEY OVER 40 MONTHS IN A TERTIARY REFERRAL CENTRE

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1213.1-1214
Author(s):  
S. Dar ◽  
V. Tidman ◽  
P. Mehta ◽  
H. Kazkaz
Keyword(s):  
Pain Management ◽  
Young Patients ◽  
Severe Disabilities ◽  
Medical Genetics ◽  
Team Approach ◽  
College Hospital ◽  
Ehlers Danlos Syndrome ◽  
Qualitative Interview Study ◽  
Danlos Syndrome

Background:Ehlers-Danlos Syndromes are heritable connective tissue disorders.They are multisystemic and patients can present with several symptoms such as joint pain and instability, visceral and autonomic dysfunction, as well as significant psychosocial sequela. Managing this cohort of young patients is usually challenging as many patients present late due to delayed diagnosis, often with several complications, problems with mobility and opioid use. Furthermore, there is often a prolonged lack of coordinated healthcare and access to social care services. A recent parliamentary debate in the U.K. highlighted that hEDS services are excluded from specialist Rheumatology commissioning services. In order to ascertain the relevance and utility of specialist services in this population, we conducted this study.Objectives:The objective of this study was to map the patient experience following a referral to the specialist clinic in order to assess the need for an integrated, multidisciplinary approach to treating patients with hypermobility EDS.Methods:We retrospectively reviewed the records of 50 patients with the diagnosis of hypermobility EDS who were seen in a specialist hypermobility clinic at University College Hospital UCLH between January 2016 and March 2016. Relevant data was collected regarding their medical care in our hospital up to October 2019.Results:The median age was 37 (range 21-59). We had 10 males and 40 females. The diagnosis of hypermobility EDS was based on the 1997 criteria as these patients were seen prior to the 2017 classification. Overall, the study yielded 6 key themes: 1. All patients experienced chronic pain, with 36% reporting use of opioids for pain management. 2. Patients were referred to multiple medical specialities within the same hospital trust, (22% patients were referred to ≥5 specialities). 3. Patients required a high number of follow up appointments (28% of patients required ≥20 follow-up visits). 4. Failed discharges were common; patients were often referred back to the Rheumatology Clinic despite being discharged to primary care. 5. Patients had a significant number of comorbidities, reflected by polypharmacy. (36% of patients were prescribed ≥5 medications). 6. Disability was high (20% of patients reported severe mobility problems).Conclusion:This study shows that patients with hEDS referred to UCLH have significant levels of disability, opioids use and polypharmacy especially for a relatively young population of patients. They need a complex interdisciplinary approach in a timely manner. In order to minimise delays and allow earlier diagnosis and intervention, we have recently adopted a multidisciplinary team approach, including pain specialists, rheumatologists, psychologists, physiotherapists, nurse specialists, urogynaecologists and neurogastroenterologists. This allows more coordinated and efficient care and incorporates an EDS-specific pain management programme. Specialised services for complex hEDS cases should be established and adequately resourced. Moreover, it would be cost effective to commission a patient-centred “one-stop-shop” service, where patients, who often travel from long distances with severe disabilities, can be seen by multiple specialities in a single visit.References:[1]Bennett, S., Walsh, N., Moss, T. and Palmer, S. (2019). Understanding the psychosocial impact of joint hypermobility syndrome and Ehlers–Danlos syndrome hypermobility type: a qualitative interview study. Disability and Rehabilitation, pp.1-10. Healthwatch Calderdale. (2019). Hypermobility Syndromes Project - Healthwatch Calderdale.[2]Tinkle, B., Castori, M., Berglund, B., Cohen, H., Grahame, R., Kazkaz, H. and Levy, H. (2017). Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 175(1), pp.48-69.Disclosure of Interests:None declared

scholarly journals Geno-phenotypic characteristics of Ehlers–Danlos syndrome: difficulties of disease type identification and approaches to pathogenetic treatment

2021 ◽  
Vol 66 (1) ◽  
pp. 22-30
Author(s):  
E. A. Nikolaeva ◽  
A. N. Semyachkina
Keyword(s):  
Connective Tissue ◽  
Clinical Symptoms ◽  
Molecular Genetic ◽  
Symptomatic Treatment ◽  
Pathological Process ◽  
Social Adaptation ◽  
Molecular Defect ◽  
Ehlers Danlos Syndrome ◽  
Pathogenetic Therapy ◽  
Danlos Syndrome

Veltischev Researchand Clinical Institutefor Pediatricsofthe Pirogov Russian National Research Medical University, Moscow, Russia The article presents modern data on the most common monogenic connective tissue disease – Ehlers–Danlos syndrome. The authors describe two previous classifications of the syndrome: Berlin (1988) classification, which distinguishes 11 types of the disease, and Beyton (1998) classification, which includes 6 types of the syndrome and takes into account the results of molecular genetic studies. Particular attention is paid to a new classification, proposed by the International Consortium in 2017. This classification is based on the clinical and molecular genetic data and unites 13 types of Ehlers–Danlos syndrome, divided in 7 groups (A–G), depending on the main molecular defect. This defect determines the violation of various collagen structures (primary, spatial, cross-linking) and others constituents of the connective tissue (myomatrix, glycosaminoglycans, complement component, etc.). The classification provides general clinical symptoms for all types of the disease and comprehensive information on the specific signs of each of the 13 types of the syndrome.The authors discuss approaches to the pathogenetic therapy of the syndrome, the possibilities of symptomatic treatment, including both medications of different spectrum of action, and physiotherapeutic measures, exercise therapy. The complex of the listed therapeutic measures is aimed at stabilizing the main pathological process, preventing complications, improving the patient’s quality of life and social adaptation. The authors emphasize that correct patient management, targeted medical supervision and medical genetic counseling requires molecular genetic verification of the diagnosis.

Abdominal wall hernias

2018 ◽  
pp. 529-540
Author(s):  
Abdullah Jibawi ◽  
Mohamed Baguneid ◽  
Arnab Bhowmick
Keyword(s):  
Connective Tissue ◽  
Abdominal Wall ◽  
Chronic Cough ◽  
Incidental Finding ◽  
Clinical History ◽  
The Body ◽  
Abdominal Pressure ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome ◽  
Groin Hernias

Hernias are abnormal protrusion of an organ through a weakness/defect in the body wall that contains it. Classifications include groin hernias, ventral abdominal wall hernias (umbilical, femoral), incisional, Spigelian, and lumbar hernias. Inguinal hernias are the commonest types of abdominal wall hernias (~75%). Male are affected 15-times more frequently. Hernias are more common in smokers, patients with underlying connective tissue disorders (Ehlers Danlos Syndrome, Marfan syndrome), and patients with increased intra-abdominal pressure (obesity, heavy lifting, chronic cough, and chronic straining during defecation and urination). Hernias present as incidental finding on imaging, asymptomatic lumps, painful lumps, or incarcerated or strangulated hernias. Clinical history and examination are the mainstay of diagnosis. Most hernias are treated with surgical repair (open or laparoscopic). Conservative wait and watch policy is indicated in some cases.

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