Respiratory complications of Ehlers–Danlos syndrome type IV

Hatake, Kiyohiko; Morimura, Yoshifumi; Kudo, Risa; Kawashima, Wataru; Kasuda, Shogo; Kuniyasu, Hiroki

doi:10.1016/j.legalmed.2012.07.005

Cited by 30 publications

(13 citation statements)

References 25 publications

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“…Other pulmonary manifestations include thick‐walled cavities as a result of previous lung hemorrhage, bullous lung disease, pan acinar emphysema, pulmonary cysts, and bronchiectasis (Selim et al, ). In rare cases massive pulmonary hemorrhage leads to acute respiratory insufficiency (Hatake et al, ). In a study of nine patients with vEDS who underwent lung biopsy, lobectomy or autopsy, most pulmonary lesions were idiopathic lung tissue lacerations (Kawabata et al, ).…”

Section: Discussionmentioning

confidence: 99%

“…Pneumothorax (PTX) and hemothorax (HTX) are also manifestations of vEDS and are considered one of the “minor” diagnostic criteria (Malfait et al, ). Spontaneous and/or recurrent pneumothoraces and hemothorax (P/HTX) are often in association with pulmonary blebs, cystic lesions, and hemorrhagic or fibrous nodules and are rare in the general population with an estimate of 0.01% of the population (Ayres, Pope, Reidy, & Clark, ; Dowton, Pincott, & Demmer, ; Hatake et al, ; Ishiguro et al, ; Murray et al, ; Purohit, Marsland, Roberts, & Townsend, ; Yost, Vogelsang, & Lie, ). In this report, we describe the prevalence of pulmonary complications in a contemporary cohort of patients with confirmatory genetic testing vEDS and highlight the temporal relation of these complications to the occurrence of arterial and intestinal complications.…”

Section: Introductionmentioning

confidence: 99%

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Spontaneous pneumothorax and hemothorax frequently precede the arterial and intestinal complications of vascular Ehlers–Danlos syndrome

Shalhub

Neptune

Sanchez

et al. 2019

American J of Med Genetics Pt A

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Vascular Ehlers-Danlos syndrome (vEDS) is a connective tissue disorder due to defective type III collagen production and is associated with arterial rupture, spontaneous intestinal perforation, and gravid uterine rupture. Spontaneous pneumothorax and/or hemothorax (P/HTX) also occurs in vEDS patients. The temporal relation of pulmonary manifestations to arterial and intestinal complications in vEDS has not been well described. This was investigated in a multiinstitutional retrospective case series of vEDS patients with confirmatory testing for COL3A1 mutation between 2000 and 2012. Data abstracted included demographics, family histories, presentation, and management of associated complications. Ninety-six cases (39% males, mean age 38.6 ± 15.5 years, range 8-79) had confirmatory testing for vEDS. P/HTX was documented in 17 (17.7%) cases. Most P/HTX preceded the diagnosis of vEDS (81%). Diagnosis of vEDS was made after arterial or intestinal complications at a mean of 7 years (range 0-26) post the initial P/HTX. In conclusion, spontaneous P/HTX is an early manifestation of vEDS frequently preceding an arterial complication or intestinal perforation. Thus, a spontaneous P/HTX in a young patient should trigger a differential diagnosis that includes vEDS. This should lead to an investigation of other vEDS features and subsequent genetic testing if vEDS features are present.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Spontaneous pneumothorax and hemothorax frequently precede the arterial and intestinal complications of vascular Ehlers–Danlos syndrome

Shalhub

Neptune

Sanchez

et al. 2019

American J of Med Genetics Pt A

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“…In our case, the patient presented with recurrent spontaneous pneumothorax like several previous reports, [ 5 , 8 , 18 ] but he also had lung parenchymal lesions-waxing and waning GGOs and newly developed cystic lesions predominantly in lower lobes and periphery which were diagnosed with PCH-like foci. Although bleeding complications due to pulmonary hemorrhage or intrapulmonary hematomas [ 10 , 11 , 19 ] and pulmonary cysts and nodules [ 8 , 17 , 22 , 23 ] were reported in previous reports, PCH-like foci has not been reported even in other variants of EDS. PCH is one of the rare causes of pulmonary hypertension.…”

Section: Discussionmentioning

confidence: 99%

Vascular Ehlers–Danlos syndrome with cryptorchidism, recurrent pneumothorax, and pulmonary capillary hemangiomatosis-like foci

et al. 2017

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Rationale:Vascular Ehlers–Danlos syndrome (vEDS) is a rare autosomal dominant inherited collagen disorder caused by defects or deficiency of pro-alpha 1 chain of type III procollagen encoded by COL3A1. vEDS is characterized not only by soft tissue manifestations including hyperextensibility of skin and joint hypermobility but also by early mortality due to rupture of arteries or vital organs. Although pulmonary complications are not common, vEDS cases complicated by pneumothorax, hemothorax, or intrapulmonary hematoma have been reported. When a patient initially presents only with pulmonary complications, it is not easy for clinicians to suspect vEDS.Patient concerns:We report a case of an 18-year-old high school student, with a past history of cryptorchidism, presenting with recurrent pneumothorax.Diagnoses:Routine laboratory findings were unremarkable. Chest high resolution computed tomographic scan showed age-unmatched hyperinflation of both lungs, atypical cystic changes and multifocal ground glass opacities scattered in both lower lobes. His slender body shape, hyperflexible joints, and hyperextensible skin provided clue to suspicion of a possible connective tissue disorder.Interventions:The histological examination of the lung lesions showed excessive capillary proliferation in the pulmonary interstitium and pleura allowing the diagnosis of pulmonary capillary hemangiomatosis (PCH)-like foci. Genetic study revealed COL3A1 gene splicing site mutation confirming his diagnosis as vEDS.Outcomes:Although his diagnosis vEDS is notorious for fatal vascular complication, there was no evidence of such complication at presentation. Fortunately, he has been followed up for 10 months without pulmonary or vascular complications.Lessons:To the best of our knowledge, both cryptorchidism and PCH-like foci have never been reported yet as complications of vEDS, suggesting our case might be a new variant of this condition. This case emphasizes the importance of comprehensive physical examination and history-taking, and the clinical suspicion of a possible connective tissue disorder when we encounter cases with atypical presentation and/or unique chest radiologic findings especially in young patients.

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“…1 , 3 , 8 -15 Th e biochemical abnormality leading to vascular EDS is in type III collagen, which is a key element in the structure of arterial walls, viscous organs, and lung parenchyma. 3 Sequencing analysis of COL3A1 detects 97% of vascular EDS cases and is clinically available in many centers. 16 Numerous diff erent mutations in COL3A1 have been shown to result in disease.…”

Section: Discussionmentioning

confidence: 99%

A 19-Year-Old Man With Relapsing Bilateral Pneumothorax, Hemoptysis, and Intrapulmonary Cavitary Lesions Diagnosed With Vascular Ehlers-Danlos Syndrome and a Novel Missense Mutation in COL3A1

Abrahamsen

Kulseth

Paus

2015

Chest

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Respiratory complications of Ehlers–Danlos syndrome type IV

Cited by 30 publications

References 25 publications

Spontaneous pneumothorax and hemothorax frequently precede the arterial and intestinal complications of vascular Ehlers–Danlos syndrome

Spontaneous pneumothorax and hemothorax frequently precede the arterial and intestinal complications of vascular Ehlers–Danlos syndrome

Vascular Ehlers–Danlos syndrome with cryptorchidism, recurrent pneumothorax, and pulmonary capillary hemangiomatosis-like foci

A 19-Year-Old Man With Relapsing Bilateral Pneumothorax, Hemoptysis, and Intrapulmonary Cavitary Lesions Diagnosed With Vascular Ehlers-Danlos Syndrome and a Novel Missense Mutation in COL3A1

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