Visceroptosis of the bowel in the hypermobility type of Ehlers–Danlos syndrome: Presentation of a rare manifestation and review of the literature
Open accessAbstract
Gastrointestinal complications are common in patients with Ehlers-Danlos syndrome, affecting up to 50% of individuals depending on the subtype. The spectrum of gastrointestinal manifestations is broad and ranges from life threatening spontaneous perforation of the visceral organs to a more benign functional symptoms. Here we describe the clinical and radiographic manifestations of visceroptosis of the bowel, a rare complication of Ehlers-Danlos syndrome that is characterized by prolapse of abdominal organs below their natural position. We further review the literature on gastrointestinal complications in the different forms of Ehlers-Danlos syndrome.
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Abnormal connective tissue leading to altered fixation of viscera to the peritoneum has been implicated in the development of visceroptosis in case reports of patients with HSD/hEDS.
“Abnormal connective tissue leading to altered fixation of viscera to the peritoneum has been implicated in the development of visceroptosis (defined as sinking of an organ below its normal position) of various organs in case reports of patients with HSD/hEDS. 46 , 47 , 48 , 49”
From Hypermobile Ehlers–Danlos syndrome and disorders of the gastrointestinal tract: What the gastroenterologist needs to know (2022) · cites this paper as [46]
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Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type
Pepin, M., Schwarze, U., Superti-Furga, A., & Byers, P. H. (2000) · New England Journal of Medicine · doi:10.1056/nejm200003093421001 · Cited by 1,344 · see citing works
Emery and Rimoin's Principles and Practice of Medical Genetics
Woods, C. G. (1997) · Journal of Medical Genetics · doi:10.1136/jmg.34.7.614-a · Cited by 714 · see citing works
Giunta, C., Elçioglu, N. H., Albrecht, B., Eich, G., Chambaz, C., Janecke, A. R., Yeowell, H., Weis, M., Eyre, D. R., Kraenzlin, M., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.05.001 · Cited by 218 · see citing works
Gastrointestinal complications of the Ehlers-Danlos syndrome
Beighton, P., Murdoch, J. L., & Votteler, T. P. (1969) · Gut · doi:10.1136/gut.10.12.1004 · Cited by 169 · see citing works
GI manifestations of Ehlers-Danlos syndrome.
Solomon, J. A., Abrams, L., & Lichtenstein, G. R. (1996) · PubMed · Cited by 91 · see citing works
Shimizu, K., Okamoto, N., Miyake, N., Taira, K., Sato, Y., Matsuda, K., Akimaru, N., Ohashi, H., Wakui, K., Fukushima, Y., et al. (2011) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.34115 · Cited by 68 · see citing works
Peña, F. P., Martín-Pinillos, F., Monserrate, I. C., & Rueda, J. P. (1972) · PubMed · Cited by 52 · see citing works
Klaassens, M., Reinstein, E., Hilhorst‐Hofstee, Y., Schrander, J. J. P., Malfait, F., Staal, H. M., ten Have, L., Blaauw, J., Roggeveen, H. C. J., Krakow, D., et al. (2011) · Clinical Genetics · doi:10.1111/j.1399-0004.2011.01758.x · Cited by 51 · see citing works
Self-citationEhlers-Danlos syndrome, hypermobility type
INSERM (2020) · Definitions · doi:10.32388/0ekfj6 · Cited by 39 · see citing works
Hernández, A., Aguirre‐Negrete, M. G., González‐Flores, S., Reynoso‐Luna, M. C., Fragoso, R., Nazará, Z., AND, G. T., & Cantú, J. M. (1986) · Clinical Genetics · doi:10.1111/j.1399-0004.1986.tb01910.x · Cited by 38 · see citing works
Danese, C., Castori, M., Celletti, C., Amato, S., Lo Russo, C., Grammatico, P., & Camerota, F. (2011) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.34134 · Cited by 38 · see citing works
Case Report: Spontaneous Rupture of Liver in a Patient with Ehlers Danlos Disease Type IV
Gelbmann, C. M., Kollinger, M., Gmeinwieser, J., Leser, H.-G., Holstege, A., & Scholmerich, J. (1997) · Digestive Diseases and Sciences · doi:10.1023/a:1018869617076 · Cited by 34 · see citing works
Diaphragmatic hernia in an 8-year-old with Ehlers-Danlos syndrome
Iglesias, J. L., & Renard, T. H. (1998) · Pediatric Surgery International · doi:10.1007/s003830050401 · Cited by 29 · see citing works
Fatal splenic rupture in Ehlers-Danlos syndrome
Harris, S., Slater, D. N., & Austin, C. A. (1985) · Postgraduate Medical Journal · doi:10.1136/pgmj.61.713.259 · Cited by 28 · see citing works
Reinstein, E., Wang, R., Zhan, L., Rimoin, D. L., & Wilcox, W. R. (2011) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33914 · Cited by 19 · see citing works
Self-citationMegacystis and megacolon in an infant with Ehlers‐Danlos syndrome
Sato, T., ITO, H., Miyazaki, S., Komine, S., & Hayashida, Y. (1993) · Pediatrics International · doi:10.1111/j.1442-200x.1993.tb03071.x · Cited by 17 · see citing works
RECTAL PROLAPSE IN THE EHLERS-DANLOS SYNDROME
DOUGLAS, B. S., & DOUGLAS, H. M. (1973) · Journal of Paediatrics and Child Health · doi:10.1111/j.1440-1754.1973.tb01862.x · Cited by 15 · see citing works
Acute Diaphragmatic Rupture in a Patient with Ehlers-Danlos Syndrome
Levine, M., & Adler, J. N. (2008) · Journal of Emergency Medicine · doi:10.1016/j.jemermed.2008.03.004 · Cited by 13 · see citing works
Spontaneous liver rupture in Ehlers-Danlos syndrome type IV
Ng, S. C. (2005) · Journal of the Royal Society of Medicine · doi:10.1258/jrsm.98.7.320 · Cited by 13 · see citing works
Chen, C.-W., & Jao, S. (2007) · New England Journal of Medicine · doi:10.1056/nejmicm066971 · Cited by 13 · see citing works
An Intrathoracic Wandering Spleen in a Patient with Ehlers-Danlos Syndrome and Diaphragmatic Hernia
Ratani, R. S., YANG, D. C., KALANI, J. G., Winer-Muram, H. T., Okadigwe, C., SIDDALINGAPPA, M., & Steiner, R. M. (2000) · Clinical Nuclear Medicine · doi:10.1097/00003072-200009000-00025 · Cited by 10 · see citing works
Byers, P. H. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-383834-6.00161-0 · Cited by 6 · see citing works
Ehlers-Danlos syndromes: Revised nosology, Villefranche, 1997
Beighton, P., Paepe, A. D., Steinmann, B., Tsipouras, P., & Wenstrup, R. J. (1998) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19980428)77:1
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Tinkle, B., Castori, M., Berglund, B., Cohen, H., Grahame, R., Kazkaz, H., & Levy, H. (2017) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics · doi:10.1002/ajmg.c.31538 · Cited by 499 · see citing works
Castori, M. (2012) · ISRN Dermatology · doi:10.5402/2012/751768 · Cited by 222 · see citing works
How to Test and Treat Small Intestinal Bacterial Overgrowth: an Evidence-Based Approach
Rezaie, A. R., Pimentel, M., & Rao, S. S. C. (2016) · Current Gastroenterology Reports · doi:10.1007/s11894-015-0482-9 · Cited by 160 · see citing works
Self-citationGastrointestinal involvement in the Ehlers–Danlos syndromes
Fikree, A., Chelimsky, G., Collins, H., Kovacic, K., & Aziz, Q. (2017) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics · doi:10.1002/ajmg.c.31546 · Cited by 159 · see citing works
Castori, M., Morlino, S., Celletti, C., Ghibellini, G., Bruschini, M., Grammatico, P., Blundo, C., & Camerota, F. (2013) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36315 · Cited by 159 · see citing works
Castori, M., Morlino, S., Pascolini, G., Blundo, C., & Grammatico, P. (2015) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics · doi:10.1002/ajmg.c.31431 · Cited by 98 · see citing works
Epidemiology and Pathophysiology of Gastroparesis
Moshiree, B., Potter, M. D. E., & Talley, N. J. (2018) · Gastrointestinal Endoscopy Clinics of North America · doi:10.1016/j.giec.2018.08.010 · Cited by 68 · see citing works
Fikree, A., Aziz, Q., & Grahame, R. (2013) · Rheumatic Disease Clinics of North America · doi:10.1016/j.rdc.2013.03.003 · Cited by 64 · see citing works
Thwaites, P. A., Gibson, P. R., & Burgell, R. E. (2022) · Journal of Gastroenterology and Hepatology · doi:10.1111/jgh.15927 · Cited by 59 · see citing works
Pain in Ehlers-Danlos syndromes: manifestations, therapeutic strategies and future perspectives
Castori, M. (2016) · Expert Opinion on Orphan Drugs · doi:10.1080/21678707.2016.1238302 · Cited by 46 · see citing works
Søborg, M.-L. K., Leganger, J., Rosenberg, J., & Burcharth, J. (2016) · Digestive Surgery · doi:10.1159/000449106 · Cited by 37 · see citing works
Risk factors and clinical characteristics of rectal prolapse in young patients
Sun, C., Hull, T. L., & Özüner, G. (2014) · Journal of Visceral Surgery · doi:10.1016/j.jviscsurg.2014.07.013 · Cited by 34 · see citing works
Higher prevalence of joint hypermobility in constipation predominant irritable bowel syndrome
Zweig, A., Schindler, V., Becker, A. S., van Maren, A., & Pohl, D. (2018) · Neurogastroenterology & Motility · doi:10.1111/nmo.13353 · Cited by 29 · see citing works
Spectrum of gastrointestinal manifestations in joint hypermobility syndromes
Botrus, G., Baker, O., Borrego, E., Ngamdu, K. S., Teleb, M., Gonzales Martinez, J. L., Maldonado, G., Hussein, A. M., & McCallum, R. (2018) · The American Journal of the Medical Sciences · doi:10.1016/j.amjms.2018.03.001 · Cited by 26 · see citing works
Recurring and Generalized Visceroptosis in Ehlers–<scp>D</scp>anlos Syndrome Hypermobility Type
Dordoni, C., Ritelli, M., Venturini, M., Chiarelli, N., Pezzani, L., Vascellaro, A., Calzavara‐Pinton, P., & Colombi, M. (2013) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.35825 · Cited by 23 · see citing works
Gravity and the Gut: A Hypothesis of Irritable Bowel Syndrome
Spiegel, B. M. R. (2022) · The American Journal of Gastroenterology · doi:10.14309/ajg.0000000000002066 · Cited by 19 · see citing works
Combined Nutcracker and Ehlers-Danlos Syndromes: A Case Report
Amato, A. C. M., da Silva, A. E. C., Bernal, I. M., de Oliveira, J. C., Ribeiro, M. D. P. A., Schinzari, P. S., & dos Santos, R. V. (2020) · EJVES Vascular Forum · doi:10.1016/j.ejvsvf.2020.02.005 · Cited by 17 · see citing works
Identification and Treatment of New Inflammatory Triggers for Complex Regional Pain Syndrome
Weinstock, L. B., Myers, T. L., Walters, A. S., Schwartz, O. A., Younger, J., Chopra, P. J., & Guarino, A. H. (2016) · A & A Case Reports · doi:10.1213/xaa.0000000000000292 · Cited by 16 · see citing works
Clinical Relevance of Joint Hypermobility and Its Impact on Musculoskeletal Pain and Bone Mass
Guarnieri, V., & Castori, M. (2018) · Current Osteoporosis Reports · doi:10.1007/s11914-018-0460-x · Cited by 14 · see citing works
Coffin, B., & Duboc, H. (2022) · Alimentary Pharmacology & Therapeutics · doi:10.1111/apt.17064 · Cited by 15 · see citing works
Fukuda, Y., Higuchi, Y., Shinozaki, K., Tanigawa, Y., Abe, T., Hanaoka, N., Matsubayashi, S., Yamaguchi, T., Kosho, T., & Nakamichi, K. (2017) · Internal Medicine · doi:10.2169/internalmedicine.8758-16 · Cited by 8 · see citing works
Risk Factors And Clinical Characteristics Of Rectal Prolapse In Young Patients
Sun, C. (2014) · Journal of Pain & Relief · doi:10.4172/2167-0846.1000146 · Cited by 6 · see citing works
Scheufler, O., Andresen, J. R., & Andresen, R. (2020) · International Journal of Surgery Case Reports · doi:10.1016/j.ijscr.2020.09.165 · Cited by 5 · see citing works
Gastric perforation leading to the diagnosis of classic Ehlers–Danlos syndrome: a case report
Alotaibi, A. E., AlAamer, O., Bawazeer, M. A., & Al‐Zahrani, A. A. (2021) · Journal of Medical Case Reports · doi:10.1186/s13256-021-03108-6 · Cited by 5 · see citing works
Visceroptosis and the Ehlers-Danlos Syndrome
Kucera, S., & Sullivan, S. N. (2017) · Cureus · doi:10.7759/cureus.1828 · Cited by 4 · see citing works
Ehlers-Danlos Syndrome: A Multidisciplinary Approach
Jacobs, J. W. G., Cornelissens, L. J. M., Veenhuizen, M. C., & Hamel, B. C. J. (2018) · IOS Press eBooks · doi:10.3233/978-1-61499-878-5-i · Cited by 4 · see citing works
Castori, M., & Colombi, M. (2015) · Journal de Réadaptation Médicale Pratique et Formation en Médecine Physique et de Réadaptation · doi:10.1016/j.jrm.2015.08.003 · Cited by 3 · see citing works
Adriani, A. (2021) · Journal of Drug Delivery and Therapeutics · doi:10.22270/jddt.v11i3.4814 · Cited by 3 · see citing works
Dysmotility of the Small Intestine and Colon
Szarka, L. A. (2015) · Wiley eBooks · doi:10.1002/9781118512074.ch61 · Cited by 2 · see citing works
Ahmed, A., Paudel, B., & Sharma, A. (2026) · Digestive Diseases and Sciences · doi:10.1007/s10620-026-09958-8 · Cited by 2 · see citing works
Strangulated rectal prolapse in adult: Altemeier cure about two cases and literature review
Niasse, A., Faye, P. M., Ndong, A., Thiam, O., & Konaté, I. (2024) · International Journal of Surgery Case Reports · doi:10.1016/j.ijscr.2024.110210 · Cited by 2 · see citing works
Yunker, R., Han, G., Vasquez, J., Baldaro, K., Zhang, L., Lee, S., & Vaishnava, S. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.05.07.652635 · Cited by 2 · see citing works
Intestinal bacterial, fungal, and methanogen overgrowth
Rezaie, A. R., & Rao, S. S. C. (2023) · Elsevier eBooks · doi:10.1016/b978-0-443-13911-6.00015-3 · Cited by 1 · see citing works
Chan, Y., Chang, B. W., Kamboj, A. K., Raphael, Y. R., Sukov, R. J., & Rezaie, A. R. (2025) · Clinical and Translational Gastroenterology · doi:10.14309/ctg.0000000000000834 · Cited by 1 · see citing works
Chavarría-Aguilar, S., Zavaleta‐Monestel, E., & Anchía-Alfaro, A. (2025) · Cureus · doi:10.7759/cureus.93187 · Cited by 1 · see citing works
Ehlers-Danlos Syndrome Presenting as Airway Obstruction and Hoarseness
Seebald, J., & Muscarella, J. L. (2015) · Journal of Case Reports in Medicine · doi:10.4303/jcrm/235956 · Cited by 1 · see citing works
Clinical presentations of gastroparesis
Moshiree, B., & Douglas, Y. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-818586-5.00003-x · Cited by 1 · see citing works
Functional Gastrointestinal Disorders and the Joint Hypermobility Syndrome
Fikree, A. (2013) · Cited by 1 · see citing works
Facteurs de risque et caractéristiques cliniques du prolapsus rectal chez le sujet jeune
Sun, C., Hull, T. L., & Özüner, G. (2014) · Journal de Chirurgie Viscérale · doi:10.1016/j.jchirv.2014.05.006
Alotaibi, A. E., AlAamer, O., Bawazeer, M. A., & Alzahrani, A. A. (2020) · Research Square · doi:10.21203/rs.3.rs-80043/v1
La 'scrittura di frontiera': autobiografia e altro ne "Il gioco dei regni" di Clara Sereni
Greatti, S. (2009) · Studi Novecenteschi
A rare case of visceroptosis caused by losing weight: Is it reasonable?
Hu, B., & Ding, H. (2022) · Asian Journal of Surgery · doi:10.1016/j.asjsur.2022.02.042
Oliva‐Pascual‐Vaca, Á., Castillo-Cañuelo, M. J., Oliva-Pascual-Vaca, J., Pérez-Montalbán, M., Ordóñez, F. J., & Martínez-Fernández, J. A. (2022) · Healthcare · doi:10.3390/healthcare10122422
Management of full thickness rectal prolapse
Rajasingh, C. M., & Gurland, B. (2022) · Seminars in Colon and Rectal Surgery · doi:10.1016/j.scrs.2022.100938
Chronic constipation and nausea in a child
Santucci, K. K., & Elias, E. R. (2024) · Elsevier eBooks · doi:10.1016/b978-0-323-95082-4.00063-3
Structural Gastrointestinal and Urogenital Dysfunction and hEDS/HSD
DePace, N. L., Soloway, S., Yayac, M. F., & Colombo, J. (2025) · Springer eBooks · doi:10.1007/978-3-031-88769-7_12
- Authors
- Reinstein, E., Pimentel, M., Pariani, M., Nemec, S., Sokol, T., & Rimoin, D. L.
- Affiliations
- Cedars-Sinai Medical Center (US)
- Corresponding author
- Reinstein, Eyal
- Venue
- European Journal of Medical Genetics
- Publisher
- Elsevier BV
- Published
- 2012-10
- Volume
- 55
- Issue
- 10
- Pages
- 548-551
- ISSN
- 1769-7212 (ISSN-L)
- PMC
- PMC3568682
- OpenAlex
- W2082910587
- Cited by
- 47
- References
- 24
- Citations by year
- 2026: 1 · 2025: 4 · 2024: 3 · 2023: 1 · 2022: 6 · 2021: 2 · 2020: 4 · 2018: 5 · 2017: 4 · 2016: 4 · 2015: 4 · 2014: 3 · 2013: 4 · 2012: 1
- FWCI
- 2.28
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- European Journal of Medical Genetics (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health (UL1TR000124)
- National Institute of General Medical Sciences (T32GM008243)
- National Center for Research Resources (M01RR000425)
- National Center for Advancing Translational Sciences
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD36657)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Health Sciences › Medicine › Gastroenterology › Gastrointestinal motility and disorders
- Health Sciences › Medicine › Rheumatology › Pelvic floor disorders treatments
- Keywords
- visceroptosis, gastrointestinal complications, radiographic findings
- MeSH terms
- Adult, Ehlers-Danlos Syndrome, Female, Humans, Radiography, Visceral Prolapse, Lower Gastrointestinal Tract, Upper Gastrointestinal Tract
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