Spontaneous Sigmoid Colon Perforation and Ruptured Subserosal ("Zebra" Pattern) Small-Bowel Hematomas in Type IV Ehlers-Danlos Syndrome: A Case Report and a Short Review

Overview

Journal J Clin Med

Specialty General Medicine

Date 2024 Jul 27

PMID 39064133

Authors

Goran Augustin

Iva Radin

Tomislav Bubalo

Josip Mavrek

Goran Pavlek

Affiliations

Soon will be listed here.

Abstract

Spontaneous colonic perforations (SCPs) in teenagers and young adults are extremely rare. Common underlying conditions, such as colonic tumors and diverticulitis, are absent at that age. The vascular type of Ehlers-Danlos Syndrome (vEDS) is one cause of SCP. A 23-year-old male presented with an acute abdomen. The abdominal CT showed pneumoperitoneum with a large amount of fluid in the pelvis and abdomen, indicating hollow viscus rupture. At the level of the sigmoid colon, a defect in the intestinal wall and gas bubbles were seen. Exploratory laparotomy confirmed sigmoid colon perforation without underlying pathology. Loop sigmoid colostomy was performed. Revisional surgery was undertaken due to clinical deterioration and intra-abdominal free fluid with small-bowel distension and air-liquid levels on abdominal CT 6 days later. Ileal subserosal hematomas were found, and many had ruptured, leaving a "zebra" pattern with lines of residual hematomas on the borders of subserosal hematomas. Genetic analysis confirmed vEDS. SCP in young adults or teenagers, in the absence of colonic disease, with clinical manifestations of connective tissue disorders should trigger genetic investigations for vEDS. SCP with a known vEDS could be treated with total colectomy to prevent further SCPs in the remaining colon. If segmental resections are performed, further SCP should be immediately excluded with any significant abdominal pain.

References

Horino T, Miyamoto Y, Ohuchi M, Ogawa K, Yoshida N, Ishiko T . Repeated intestinal perforations in vascular Ehlers-Danlos syndrome: a case report of a novel mutation in the COL3A1 gene. Surg Case Rep. 2023; 9(1):78. PMC: 10182206. DOI: 10.1186/s40792-023-01643-6. View

El Masri H, Loong T, Meurette G, Podevin J, Zinzindohoue F, Lehur P . Bowel perforation in type IV vascular Ehlers-Danlos syndrome. A systematic review. Tech Coloproctol. 2018; 22(5):333-341. DOI: 10.1007/s10151-018-1783-4. View

Curtis J, Xie F, Chen L, Spettell C, McMahan R, Fernandes J . The incidence of gastrointestinal perforations among rheumatoid arthritis patients. Arthritis Rheum. 2010; 63(2):346-51. PMC: 3031757. DOI: 10.1002/art.30107. View

Baderkhan H, Wanhainen A, Stenborg A, Stattin E, Bjorck M . Celiprolol Treatment in Patients with Vascular Ehlers-Danlos Syndrome. Eur J Vasc Endovasc Surg. 2020; 61(2):326-331. DOI: 10.1016/j.ejvs.2020.10.020. View

Bloom L, Byers P, Francomano C, Tinkle B, Malfait F . The international consortium on the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017; 175(1):5-7. DOI: 10.1002/ajmg.c.31547. View

Schwartz J, Graham D . Toothpick perforation of the intestines. Ann Surg. 1977; 185(1):64-6. PMC: 1396248. DOI: 10.1097/00000658-197701000-00010. View

Murakami S, Misumi M, Sakata H, Hirayama R, Kubojima Y, Nomura K . Churg-Strauss syndrome manifesting as perforation of the small intestine: report of a case. Surg Today. 2004; 34(9):788-92. DOI: 10.1007/s00595-004-2817-2. View

Adham S, M Zinzindohoue F, Jeunemaitre X, Frank M . Natural History and Surgical Management of Colonic Perforations in Vascular Ehlers-Danlos Syndrome: A Retrospective Review. Dis Colon Rectum. 2019; 62(7):859-866. DOI: 10.1097/DCR.0000000000001383. View

Abbas M, Collins J, Olden K, Kelly K . Spontaneous intramural small-bowel hematoma: clinical presentation and long-term outcome. Arch Surg. 2002; 137(3):306-10. DOI: 10.1001/archsurg.137.3.306. View

10.

HOSKINS L, NORRIS H, GOTTLIEB L, ZAMCHECK N . Functional and morphologic alterations of the gastrointestinal tract in progressive systemic sclerosis (scleroderma). Am J Med. 1962; 33:459-70. DOI: 10.1016/0002-9343(62)90241-3. View

11.

GENNARO A, ROSEMOND G . Diverticulitis of the colon. Dis Colon Rectum. 1974; 17(1):74-81. DOI: 10.1007/BF02587541. View

12.

Oderich G, Panneton J, Bower T, Lindor N, Cherry K, Noel A . The spectrum, management and clinical outcome of Ehlers-Danlos syndrome type IV: a 30-year experience. J Vasc Surg. 2005; 42(1):98-106. DOI: 10.1016/j.jvs.2005.03.053. View

13.

Byers P, Belmont J, Black J, De Backer J, Frank M, Jeunemaitre X . Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome. Am J Med Genet C Semin Med Genet. 2017; 175(1):40-47. DOI: 10.1002/ajmg.c.31553. View

14.

Lum Y, Brooke B, Black 3rd J . Contemporary management of vascular Ehlers-Danlos syndrome. Curr Opin Cardiol. 2011; 26(6):494-501. DOI: 10.1097/HCO.0b013e32834ad55a. View

15.

McNabb W, Lennox M, Wedzicha J . Small intestinal perforation in Wegener's granulomatosis. Postgrad Med J. 1982; 58(676):123-5. PMC: 2426289. DOI: 10.1136/pgmj.58.676.123. View

16.

Sugimoto K, Sakamoto K, Okazawa Y, Takahashi R, Mizukoshi K, Ro H . Colorectal Perforation in Patients with Connective Tissue Disease. Emerg Med Int. 2019; 2019:5852438. PMC: 6607726. DOI: 10.1155/2019/5852438. View

17.

Geraghty J, Mackay I, Smith D . Intestinal perforation in Wegener's granulomatosis. Gut. 1986; 27(4):450-1. PMC: 1433398. DOI: 10.1136/gut.27.4.450. View

18.

Stupalkowska W, Mahler-Araujo B, Bennett J, Gourgiotis S . Spontaneous bowel perforation in the setting of colonic involvement with scleroderma. BMJ Case Rep. 2020; 13(1). PMC: 6954748. DOI: 10.1136/bcr-2019-233220. View

19.

Chen Y, Meng J, Li C . Intestinal perforation with systemic lupus erythematosus: A systematic review. Medicine (Baltimore). 2023; 102(31):e34415. PMC: 10402941. DOI: 10.1097/MD.0000000000034415. View

20.

Boutouyrie P, Germain D, Fiessinger J, Laloux B, Perdu J, Laurent S . Increased carotid wall stress in vascular Ehlers-Danlos syndrome. Circulation. 2004; 109(12):1530-5. DOI: 10.1161/01.CIR.0000121741.50315.C2. View