Ehlers-Danlos Syndrome with Recurrent Spontaneous Pneumothoraces and Cavitary Lesion on Chest X-ray as the Initial Complications

Ishiguro, Takashi; Takayanagi, Noboru; Kawabata, Yoshinori; Matsushima, Hidekazu; Yoshii, Yutaka; Harasawa, Keiji; Yamaguchi, Shozaburo; Yoneda, Koichiro; Miyahara, Yousuke; Kagiyama, Naho; Tokunaga, Daido; Aoki, Fumiaki; Saito, Hiroo; Kurashima, Kazuyoshi; Ubukata, Mikio; Yanagisawa, Tsutomu; Sugita, Yutaka; Okita, Hiroshi; Hatamochi, Atsushi

doi:10.2169/internalmedicine.48.1818

Cited by 35 publications

(17 citation statements)

References 10 publications

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“…The body of literature regarding pulmonary complications in vEDS consists of case reports (Abrahamsen, Kulseth, & Paus, ; Dar, Wani, Mushtaque, & Kasana, ; Gu et al, ; Ishiguro et al, ; Kashizaki, Hatamochi, Kamiya, Yoshizu, & Okamoto, ; Omori et al, ; Sadakata et al, ; Selim, Lane, Rubinowitz, & Siner, ). The majority of these case reports include males with an average age of 24 years (range 11–64) at presentation, not unlike the mean age of initial P/HTX presentation in our cohort.…”

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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“…The connective tissue of the vessel walls and internal organs, particularly that of the liver and lung, shows distinct hypoplasia, and type III collagen is significantly reduced (3). This may cause increased fragility of the lungs and may present characteristic radiological findings, such as distributed cavities, fibrous nodules, and calcified lesions (5,15). Furthermore, pleural rupture may lead to pneumothorax or pneumohemothorax.…”

Section: Discussionmentioning

confidence: 99%

Ehlers-Danlos Syndrome Type IV with Bilateral Pneumothorax

et al. 2015

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A 17-year-old teen was hospitalized with bilateral pneumothorax. After the bilateral lungs were expanded using catheter tubes, he fully recovered and he was discharged from our hospital. He had a history of colon perforation. Ehlers-Danlos syndrome (EDS) was suspected due to the combination of colon perforation and pneumothorax, and EDS type IV was confirmed after a genetic study identified a c.1511g>a mutation in the COL3A1 gene. This is the first report of bilateral pneumothorax caused by EDS type IV. Clinicians should consider EDS type IV in the differential diagnosis for bilateral pneumothorax in conjunction with distinct previous histories and radiological findings.

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“…Chest CT has been reported to show ground glass opacity due to bleeding, a tumor-like shadow due to the presence of a hematoma, a cavernous opacity following the formation of the hematoma, or a cystic shadow and a calcified opacity [6,8,11,12]. In addition, most pleural lesions have been reported to consist of pneumothorax and hemothorax caused by weakening of the pleura and vascular fragility [2,6,11-13]. Our patient had gastrointestinal perforation and hemothorax, which are very similar to the complications associated with vEDS.…”

Section: Discussionmentioning

confidence: 99%

Vascular-type Ehlers-Danlos syndrome caused by a hitherto unknown genetic mutation: a case report

et al. 2013

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IntroductionVascular-type Ehlers-Danlos syndrome is an autosomal dominant disease that causes arterial spurting, intestinal perforation, uterine rupture and hemopneumothorax due to decreased production of type III collagen. The average age at death is 48 years old, and it is considered to be the most severe form of Ehlers-Danlos syndrome. We report the case of a 64-year-old Japanese woman and her 38-year-old daughter who were diagnosed with this disease.Case presentationA 64-year-old Japanese woman was referred to our hospital because of right anterior chest pain following cough and pharyngeal discomfort. Pleurisy was suspected due to the presence of right pleural effusion, so the next day she was referred to our department, where a detailed examination led to the diagnosis of hemothorax. The bleeding that caused the right hemothorax was difficult to control, so our patient was transferred to the Department of Thoracic Surgery for hemostasis control. Our patient’s personal history of uterine hemorrhage and skin ulcers, as well as the finding of skin fragility during surgery, were indicative of a weak connective tissue disease; therefore, after improvement of the hemothorax, a genetic analysis was performed. This revealed a heterozygous missense mutation in COL3A1, c.2411 G>T p.Gly804Val (exon 36). A detailed investigation conducted at a later date revealed that her daughter also had the same genetic mutation. This led to the diagnosis of vascular-type Ehlers-Danlos syndrome characterized by a new gene mutation.ConclusionWe report a new genetic mutation associated with vascular-type Ehlers-Danlos syndrome. We present the clinical and imaging findings, and the disease and treatment course in this patient. We believe this information will be important in treating future cases of vascular-type Ehlers-Danlos syndrome in patients with this mutation.

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Ehlers-Danlos Syndrome with Recurrent Spontaneous Pneumothoraces and Cavitary Lesion on Chest X-ray as the Initial Complications

Abstract: Abstract

Cited by 35 publications

References 10 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

Ehlers-Danlos Syndrome Type IV with Bilateral Pneumothorax

Vascular-type Ehlers-Danlos syndrome caused by a hitherto unknown genetic mutation: a case report

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