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Ehlers-Danlos: A Literature Review and Case Report in a Colombian Woman with Multiple Comorbidities.

ABSTRACT: Ehlers-Danlos syndromes (EDS) are a heterogeneous group of genetically transmitted connective tissue disorders that directly affect collagen synthesis, with a broad range of symptoms. Case presentation: This study presents a clinical case of a Colombian woman with myopathic EDS and multiple comorbidities taking 40 years of medical history to make the right diagnosis. This article also presents a review of the current literature on EDS, not only to remind the syndrome but also to help the clinician correctly identify symptoms of this diverse syndrome. Conclusion: A multidisciplinary approach to the diagnosis of the patient, including clinical and molecular analysis, and neuropsychological and psychological assessment, is important to improve the treatment choice and the outcome prediction of the patients.

SUBMITTER: Fajardo-Jimenez MJ

PROVIDER: S-EPMC9689997 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature

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Ehlers-Danlos: A Literature Review and Case Report in a Colombian Woman with Multiple Comorbidities.

Fajardo-Jiménez María José MJ Tejada-Moreno Johanna A JA Mejía-García Alejandro A Villegas-Lanau Andrés A Zapata-Builes Wildeman W Restrepo Jorge E JE Cuartas Gina P GP Hernandez Juan C JC

Genes 20221115 11

Ehlers-Danlos syndromes (EDS) are a heterogeneous group of genetically transmitted connective tissue disorders that directly affect collagen synthesis, with a broad range of symptoms. Case presentation: This study presents a clinical case of a Colombian woman with myopathic EDS and multiple comorbidities taking 40 years of medical history to make the right diagnosis. This article also presents a review of the current literature on EDS, not only to remind the syndrome but also to help the clinici ...[more]

PMID: 36421793

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Total colectomy in Vascular Ehlers Danlos syndrome a case report and literature review.

Project description:IntroductionEhlers Danlos syndromes (EDS) are a group of genetic disorders, characterized by skin hyperelasticity, joint hyperlaxity and tissue weakness. Vascular EDS is rare and is differs from other types of EDS by an inconsistent acrogenic morphotype and the occurrence of severe digestive and vascular complications, which can be lifethreatening.Case presentationWe report the case of a 27-year-old man with a type IV vascular Ehlers-Danlos syndrome revealed by a colonic perforation after appendectomy for peritonitis secondary to appendicitis. The etiology of the perforation remained a challenge till a genetic research was carried out for COL3A1 gene mutation, which was positive in favor of vascular Ehlers Danlos disease. Then, a totalization of the colectomy with ileorectal anastomosis was performed.DiscussionVascular Ehlers Danlos syndrome (VEDS) is due to qualitative and quantitative abnormalities in the synthesis of type III collagen, which is a major constituent of the vessel wall, skin, joint capsules, uterus and gastrointestinal tract, particularly the colon. Colonic perforation, particularly sigmoidal perforation, is the most frequent complication in SEDV and most often precedes the molecular diagnosis. Colonic perforations are uncommon. The Hartmann procedure is a well-established surgical treatment modality, especially for emergency surgery. Given the iterative risk of colonic perforation and anastomotic leakage, preventive treatment by total colectomy with ileo-rectal anastomosis or definitive ileostomy is recommended by several authors.ConclusionSEDV is a rare pathology with a difficult diagnosis. However, it should be keeped in mind when there is any spontaneous colonic perforation in the young people.

| S-EPMC8577335 | biostudies-literature

Ehlers-Danlos Syndrome Type VIIC: A Mexican Case Report.

Project description:Ehlers-Danlos syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders whose primary clinical features include soft and extensible skin, articular hypermobility and tissue fragility. EDS type VIIC or 'human dermatosparaxis' is an autosomal recessive disease characterized by severe skin fragility and sagging redundant skin (major criteria) with a soft, doughy texture, easy bruising, premature rupture of fetal membranes and large hernias (minor criteria). Dermatosparaxis (meaning 'tearing of skin'), which has been described in several non-human species, is a disorder of the connective tissue resulting from a deficiency of the enzyme that cleaves the registration peptide off the N-terminal end of collagen after it has been secreted from fibroblasts. We describe a Mexican case from consanguineous parents with all the phenotypical characteristics previously described, plus skeletal abnormalities.

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Therapeutic difficulties in a patient with Ehlers-Danlos syndrome and numerous symptomatic premature ventricular contractions-case report and literature review.

Project description:A 28-year-old female patient diagnosed with Ehlers-Danlos syndrome type III (hypermobile EDS, hEDS) was admitted to the cardiology clinic due to a 3-year history of symptomatic ventricular arrhythmia in the form of multiple premature ventricular contractions (PVCs). Attempts at antiarrhythmic treatment with beta-blockers, propafenone, and verapamil were unsuccessful. Due to the diagnosis of hEDS and the high risk of vascular complications related to the ablation procedure, invasive treatment was abandoned, and it was decided to implement flecainide. After the flecainide treatment initiation, a spectacular improvement in the number of ventricular arrhythmias was observed, along with the disappearance of the complaints previously reported by the patient. To the best of our knowledge, this is the first described case of spectacular flecainide antiarrhythmic effect in a patient with numerous PVCs also diagnosed with EDS. Flecainide treatment in the EDS group could be a successful alternative to ablation, which can lead to serious vascular and even life-threatening complications, especially after the failure of propafenone and beta-blockers treatment.

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Treatment and molecular analysis of bullous pemphigoid with tofacitinib: a case report and review of current literature

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2024-11-13 | GSE278926 | GEO

Penile fracture in a patient with Ehlers-Danlos syndrome: A case report.

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| S-EPMC6796720 | biostudies-literature

Hemoptysis caused by Parvimonas micra: case report and literature review

Project description:Hemoptysis caused by Parvimonas micra: case report and literature review

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Case report: Spontaneous coronary artery dissection in a man with Ehlers-Danlos syndrome.

Project description:BackgroundSpontaneous coronary artery dissection (SCAD), as a medical emergency, represents one of the non-atherosclerotic causes of an acute coronary syndrome (ACS). It often occurs in young and middle-aged females and is a rarity among male patients. Yet, it is easily misdiagnosed or missed even though it has one of the highest in-hospital mortality rates.Case summaryHere, we present a young male patient admitted to the emergency department of our hospital due to a complaint of acute chest pain. During his hospitalization, we utilized several tools, including imaging modalities, genetic analyses, and clinical strategies, to ensure a proper diagnosis and management of the patient. The results indicated that the patient suffered from SCAD, as well as vascular Ehlers-Danlos syndrome (vEDS). Unfortunately, the patient died of SCAD-related sudden cardiac death (SCD) on the ninth day before the DNA analysis results were obtained. Despite a global effort and huge progress in the clinical characterization of SCAD, as well as patients' assessments, its pathophysiology remains poorly understood, with a significant recurrence risk and no specific disease-modifying therapy.ConclusionVascular Ehlers-Danlos syndrome, as an inherited connective tissue disorder characterized by congenital connective tissue dysplasia, is a rare and particularly challenging monogenetic disease. It can cause life-threatening changes, including arterial dissections and ruptures, and lead to early death due to COL3A1 pathogenic variants. It is also a rare cause of SCAD. Currently, the gold standard for SCAD diagnosis is coronary angiography (CAG).

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Project description:Hereditary connective tissue disorders have overlapping phenotypes, particularly in regard to musculoskeletal features. This contributes to the challenge of phenotype-based clinical diagnoses. However, some hereditary connective tissue disorders have distinct cardiovascular manifestations that require early intervention and specific management. Molecular testing has increased the ability to categorize and diagnose distinct hereditary connective tissue disorders. A 42-yr-old female with a clinical diagnosis of Larsen syndrome from birth presented for genetic testing based on her recent diagnosis of premenopausal breast cancer. She had a past medical history of multiple carotid dissections. As she never had confirmatory molecular genetic testing for Larsen syndrome, whole-exome sequencing was utilized to assess both hereditary cancer predisposition syndromes and connective tissue disorders. A homozygous pathogenic variant in the FKBP14 gene was identified associated with FKBP14 kyphoscoliotic Ehlers-Danlos syndrome. We recommend that patients with a clinical diagnosis of Larsen syndrome undergo broad-based molecular sequencing for multiple hereditary connective tissue disorders. Molecular diagnosis is particularly crucial for all individuals who have a history of significant vascular events in the setting of a clinical diagnosis only. Early diagnosis of a hereditary connective tissue disorder with vascular features allows for screening and subsequent prevention of cardiovascular events.

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Redefining the progeroid form of Ehlers-Danlos syndrome: report of the fourth patient with B4GALT7 deficiency and review of the literature.

Project description:Proteoglycans are a component of the extracellular matrix and are critical for cellular and tissue function. Mutations in proteoglycan components and enzymes involved in proteoglycan synthesis have been implicated in several growth disorders, with common features including short stature and skeletal dysplasia. For example, mutations in B4GALT7, a gene whose protein product catalyzes proteoglycan synthesis, have been associated with the rare progeroid variant of Ehlers-Danlos syndrome. Here, we conducted exome sequencing in a patient with a previously undiagnosed growth disorder and identified compound heterozygous mutations in B4GALT7. This patient is just the fourth individual with genetically confirmed progeroid variant of Ehlers-Danlos syndrome. The mutations include a previously characterized c.808C>T p.Arg270Cys substitution, and a novel c.122T>C p.Leu41Pro substitution. We demonstrate that the novel mutation caused decreased levels of the enzyme, supporting the pathogenicity of the mutation. Our report identifies a novel mutation in B4GALT7 causing the progeroid variant of Ehlers-Danlos syndrome and contributes an extensive phenotypic characterization of a patient with the syndrome. We also reviewed the previous literature in addition to the present patient, and conclude that the key features associated with B4GALT7 deficiency are short stature, developmental anomalies of the forearm bones and elbow, and bowing of the extremities, in addition to the classic features of Ehlers-Danlos syndrome. This report helps define the phenotype of the progeroid variant of Ehlers-Danlos syndrome and furthers our understanding of the effect of proteoglycan defects in growth disorders.

| S-EPMC3788078 | biostudies-literature

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