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Risk and Causality by Genetics, Gender, and Age
Published in Susmita Chowdhuri, M Safwan Badr, James A Rowley, Control of Breathing during Sleep, 2022
Moshe Y Prero, Nardine Zakhary, Sally Ibrahim, Kingman P Strohl
There are relatively strong genes that can be found in adult OSA cohorts but many were first discovered in childhood congenital disorders and then examined for effect in adult relatives, finding effects with variable or dependent penetrance, or taking some time for its actions to come to clinical attention. Table 9.1 presents some of the known genetic syndromes that could present at birth; however, once identified, some mild childhood conditions appear in adulthood. One pathway, PHOX2b, was identified originally through an unbiased association of genetic polymorphisms to disease traits in childhood and led to the identification of parental phenotypes of sleep apnea and hypoventilation after the diagnosis of the child (42). Now parents of such patients are found to have apneas and hypoventilation with shorter polyalanine repeats. Other genetic syndromes, like Pierre Robin Prader-Willi, and Down syndrome, while recognizable at an early age, can appear with symptomatic sleep-disordered breathing in young adulthood or even later (43, 44). Pompe disease can be noticed in childhood; however, there are those who present in early adulthood, and this condition should be part of the differential diagnosis of adult hypoventilation syndromes. The recognition of Pompe disease is important now that there is enzyme replacement therapy (45, 46). Ehlers-Danlos syndrome, especially in its more mild presentations, may go undiagnosed in childhood (47).
Disorders of bone and connective tissue
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
The Ehlers-Danlos group of disorders is extremely heterogeneous. The main features are hypermobility of skin and joints, skin fragility and bruising, and rarer vascular, visceral and ocular complications. It is important not to confuse the group with the much more common and essentially harmless benign familial joint hypermobility (also often dominantly inherited); it is sometimes associated with pain and limitation of mobility out of proportion to the associated physical signs. The classification of the Ehlers-Danlos syndromes has recently been simplified (Table 16.4).
Rheumatology
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Clarissa Pilkington, Kiran Nistala, Helen Lachman, Paul Brogan
This is common: children have a greater range of normal joint mobility than adults and 5–10% of normal children have either localised or generalised hypermobility (up to 10% of which becomes symptomatic). Genetic syndromes include Marfan syndrome and Ehlers–Danlos syndrome.
Occupational Therapy Interventions for Clients with Ehlers-Danlos Syndrome (EDS) in the Presence of Postural Orthostatic Tachycardia Syndrome (POTS)
Published in Occupational Therapy In Health Care, 2022
David Levine, Brittany Work, Susan McDonald, Nicole Harty, Carolee Mabe, Alison Powell, Graceline Sanford
Ehlers-Danlos syndromes are classified into 13 subtypes, including: classical, classical-like, cardiac-valvular, vascular, hypermobile, arthrochalasia, dermatosparaxis, kyphoscoliotic, brittle cornea syndrome, spondylodysplastic, musculocontractural, myopathic, and periodontal (Malfait et al., 2017). The two most common types of EDS are classical EDS and hEDS (De Paepe & Malfait, 2012). While some signs and symptoms are common to most subtypes (e.g., joint hypermobility), others may only be seen in as few as one of the thirteen (e.g., corneal thinning) (Malfait et al., 2017). There are major and minor criteria for each subtype, including symptoms such as fatigue, muscle pain, dizziness, etc., and physical indicators that help diagnose the various subtypes (Malfait et al., 2017). The Beighton score is the standard for assessing joint hypermobility during the process of diagnosing EDS (McGillis et al., 2020). Nine joints are tested, and a score of four or higher is sufficient for diagnosing generalized hypermobility (McGillis et al., 2020). Specific gene variability can also be used to confirm the diagnosis for all subtypes except hEDS (Malfait et al., 2017). The physical signs and symptoms associated with each individual with any of the thirteen subtypes can vary widely, which reinforces the importance of individualized intervention (Malfait et al., 2017). The Ehlers-Danlos Society has a comprehensive website detailing the various types and the diagnostic criteria (EDS Types).
Vascular manifestations and kyphoscoliosis due to a novel mutation of PLOD1 gene
Published in Acta Cardiologica, 2021
Piotr Zieminski, Jessie Risse, Anne Legrand, Virginie Dufrost, Laurence Bal, Nicla Settembre, Sergueï Malikov, Xavier Jeunemaitre, Denis Wahl, Stéphane Zuily
Ehlers-Danlos syndromes (EDS) are a group of rare genetic disease, composed of 13 subtypes, which affect the connective tissue, predisposing to various severe complications including the cardiovascular system. Cardiovascular complications are potentially life-threatening and well described within the vascular subtype of EDS (vEDS) related to COL3A1 gene mutation. It includes spontaneous vascular dissections and aneurysms or dysplastic aspects of large and medium-sized vessels (e.g. aorta, coronary and carotid arteries, or any peripheral artery), with an early age at onset. Mitral valve prolapse is also commonly seen. Therefore, vEDS patients should be screened for aortic root aneurysm, valvular involvement, dysplastic arteries or aneurysms/dissections of medium-sized arteries. Management of arterial hypertension is mandatory, as well as avoiding invasive procedures, given the underlying tissue fragility and the risk of artery dissections as well as organs ruptures. Scarce data have shown recently that patients with other subtypes of EDS could have an increased risk of vascular complications. Our case highlights the vascular risk in kEDS patients therefore supporting similar cardiovascular management as in vEDS patients.
Predictors of pain and mobility disability in the hypermobile Ehlers-Danlos syndrome
Published in Disability and Rehabilitation, 2020
Larissa Kalisch, Claude Hamonet, Caroline Bourdon, Lucile Montalescot, Cécile de Cazotte, Carolina Baeza-Velasco
The Ehlers-Danlos Syndromes (EDS) are a group of hereditary disorders of the connective tissue clinically and genetically heterogeneous. They share characteristics of fragile tissues, general joint hypermobility, abnormal skin texture as well as dysfunctional vessels and internal organs [1]. The 1988 “Berlin Nosology” recognized eleven EDS subtypes [2]. A revised classification was published in 1997, the so-called “Villefranche Nosology”, in which six subtypes were described [3]. Recently, the International Consortium on the Ehlers-Danlos Syndromes updated the EDS classification [4]. Since then, EDS counts thirteen different forms. Among them the hypermobile EDS (hEDS) is the most prevalent (1–3%, around 80% female) [5], and is the only one for which the genetic basis remains unknown. Thus, the diagnosis is clinical.