Abstract
Ehlers-Danlos syndrome (EDS) appears today to be very common but is still, paradoxically, considered as rare because of a very scarce and belated diagnosis. Respiratory manifestations (exertional dyspnea, painful inspiratory bradypnea and sleep apnea are among the poorly understood manifestations of this diffuse inherited collagen disease. They can cause diagnostic errors, especially with asthma, which can lead to worsening, in these patients with very fragile tissues (including bones), contraindicating corticosteroid therapy. EDS should be systematically discussed in case of respiratory disorders in children but also in adults. There are very beneficial effects observed with oxygen therapy which considerably helps with symptoms such as fatigue, migraine, cognition, by correcting cerebral anoxia which accompanies it. Pneumologists should be made aware of the benefits of oxygen therapy when faced with an EDS patient as they may have to prescribe it.
Highlights
EDS appears to be very common today (1) but it is still, paradoxically, considered as rare because very scarcely (2) and often belatedly diagnosed (3)
Among the clinical manifestations forgotten by the first descriptors (4, 5) are respiratory manifestations which are frequent (6) and may lead to incorrect diagnoses and treatments that worsen these very fragile patients
It is important to consider EDS instead of asthma, sleep apnea, heart pain or, above all, as is too often the case, psychosomatic disorders. This will enable to set up prevention and new suitable treatments for this disease, including discontinuous daily oxygen therapy, which has largely shown its effectiveness for several years, on all the manifestations of this complex disease, in particular on respiratory symptomatology (7)
Summary
EDS appears to be very common today (1) but it is still, paradoxically, considered as rare because very scarcely (2) and often belatedly diagnosed (3). It is important to consider EDS instead of asthma, sleep apnea, heart pain or, above all, as is too often the case, psychosomatic disorders This will enable to set up prevention and new suitable treatments for this disease, including discontinuous daily oxygen therapy, which has largely shown its effectiveness for several years, on all the manifestations of this complex disease, in particular on respiratory symptomatology (7). Diagnosis is possible by highlighting the presence of 5 of the 9 following signs with a sensitivity of 99.6% and a fidelity of 97.1% (6, 15): diffuse and permanent pain reinforced during crises and rebellious to treatments, very significant fatigue, motor control disturbances, joint instability, fragile skin, joint hyperlaxity, hemorrhagic tendency (bruising, gingivorrhagia, menorrhagia), hyperacusis, gastric reflux These signs join those proposed by Rodney Grahame (14) and Antonio Bulbena (17) by completing them. These breathing control difficulties may explain periods of polypnea sometimes observed by pneumologists during functional respiratory tests
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