The Open Rheumatology Journal

ISSN: 1874-3129 ― Volume 14, 2020

Osteoarthritis at Young Age, a Diagnostic Challenge: A Case of Stickler Syndrome

Isabelle de Wergifosse*, Rene Westhovens
Division of Rheumatology, University Hospital, Leuven, Belgium


A young woman presents with severe polyarticular osteoarthritis with relevant family history potentially suggesting a hereditary disease. Previously, the patient’s mother had been diagnosed with rheumatoid arthritis and reported to have suffered from some locomotor problems. Careful clinical evaluation with an extensive personal and familial history pointed towards a diagnosis of Stickler syndrome, an autosomal dominant condition with progressive arthro-ophthalmopathy, (early osteoarthritis and myopia). Following this timely diagnosis, genetic counselling was offered.

Keywords: Myopia, osteoarthritis, scoliosis, Stickler Syndrome. .

Article Information

Identifiers and Pagination:

Year: 2014
Volume: 8
First Page: 100
Last Page: 102
Publisher Id: TORJ-8-100
DOI: 10.2174/1874312901408010100

Article History:

Received Date: 21/8/2014
Revision Received Date: 13/10/2014
Acceptance Date: 12/11/2014
Electronic publication date: 19 /12/2014
Collection year: 2014

© de Wergifosse and Westhovens; Licensee Bentham Open.

open-access license: This is an open access article licensed under the terms of the Creative Commons Attribution Non-Commercial License ( which permits unrestricted, non-commercial use, distribution and reproduction in any medium, provided the work is properly cited.

* Address correspondence to this author at the Division of Rheumatology, University Hospital, Leuven, Belgium; Tel: 016-342541; Fax: 016-342543; E-mail:,


Complete and timely medical diagnoses rely on the identification of symptom patterns that are characteristic for certain patient demographics. Therefore, it is plausible that a disease presenting at an unusual age might be overlooked as part of the differential diagnosis. Furthermore, a disease commonly associated with the elderly that presents at a younger age might indicate a hereditary disease; in which a diagnosis is a priority for genetic counselling. Here, we report a patient presenting with early onset polyarticular osteoarthritis, with a potential hereditary cause. A full clinical evaluation and an extensive personal and familial history taking resulted in the correct diagnosis. The patient gave oral informed consent for this report.


A 26-year old female patient presents with arthralgia and intermittent swelling of the PIP joints, ankles and knees of several years. Symptoms worsen on joint loading and when participating in sports, there was no morning stiffness or pain at night. A brief medical history shows that she underwent a fusion procedure for scoliosis and a Ravitch procedure for pectus carinatum during childhood. She suffered a hip fracture aged 18 and was previously diagnosed with myopia. Clinical examination revealed a woman with short stature (1.60m) with exceptionally long and thin fingers, a status post scoliosis fusion and chest surgery, and mild hydrops with flexion deficit in the right knee. Applying patellar pressure was painful for both knees. Radiology revealed significant degenerative changes of the knees, ankles and some PIP joints (Figs. 1, 2).

Fig. (1)

X-rays showing the patient’s unusually slender hands and long phalanges (arrow), a feature that can be seen in patients with Stickler syndrome.

Fig. (2)

X-rays of the patient’s knees showing signs of osteoarthritis, the broad arrow indicating marked joint space narrowing. The small arrow indicates an osteophyte.

Fig. (3)

X-rays of the mothers’ hands showing signs of osteoarthritis. We see joint space narrowing in most of the MCP, PIP and DIP joints, accompanied by osteophyte formation.. These features, with the absence of erosive disease and involvement of the DIP joints, are not consistent with a diagnosis of rheumatoid arthritis.

Fig. (4)

X-rays of the mothers’ knees showing right knee replacement (broad arrow) and left-sided severe osteoarthritis marked by extreme lateral joint space narrowing with valgus (small arrow).

The patient was accompanied to the first outpatient visit by her mother, who had previously undergone a bilateral hip replacement in her thirties. The patient’s mother was also treated for presumed rheumatoid factor negative rheumatoid arthritis (RA). The patient’s grandfather also suffered from “early arthrosis”. A new radiological evaluation was requested from the rheumatologist overseeing the mother’s follow up care. Results from this clearly showed polyarticular osteoarthritis with no typical RA erosions (Figs. 3, 4).

The main reason for this young female to attend a consultation was her concern about an inheritable disease. The combination of familial osteoarthritis at a young age, early scoliosis and the myopia suggests a diagnosis of autosomal dominant Stickler syndrome; in depth analysis revealed a c.2155C>T mutation in the COL2A1 gene corresponding with Stickler syndrome.

PIP and DIP joints, accompanied by osteophyte formation.. These features, with the absence of erosive disease and involvement of the DIP joints, are not consistent with a diagnosis of rheumatoid arthritis.


Gunnar B. Stickler first described Stickler syndrome in 1965 as an autosomal dominant progressive arthro-ophthalmopathy [1Stickler GB, Belau PG, Farrell FJ , et al. Hereditary Progressive Arthro-Ophthalmopathy. Mayo Clin Proc 196; 40(6): 433-55.]. Disease manifestations are variable with a late or misdiagnosis being common. Clinical features consist of orofacial and ophthalmic features, deafness and osteoarthritis. Typical orofacial features include a flat midface with a depressed nasal bridge, anteverted nares and micrognathia [1Stickler GB, Belau PG, Farrell FJ , et al. Hereditary Progressive Arthro-Ophthalmopathy. Mayo Clin Proc 196; 40(6): 433-55.-4Temple IK. Stickler's syndrome. J Med Genet 1989; 26(2): 119-26.]. The majority of families with Stickler syndrome have mutations in the COL2A1 gene: Type 1 or membranous-vitreous type. Others may have mutations in the COL11A1 gene, known as Type 2. Mutations in COL11A2 have also been described, displaying a more systemic syndrome but no ophthalmological features, known as Type 3. Other loci are yet to be identified. Osteoarticular manifestations are common and include early-onset osteoarthritis, spinal abnormalities and joint hypermobility, with up to 50% of patients developing osteoarthritis before the age of 30 [5Couchouron T, Masson C. Early-onset progressive osteoarthritis with hereditary progressive ophtalmopathy or Stickler syndrome. Joint Bone Spine 2011; 78(1): 45-9.]. The typical orofacial features were not present in this patient, although these can become less expressive with increasing age, and the patient suffered no hearing loss. The slender fingers seen here are infrequently reported in literature. In summary, our patient was suffering from early osteoarthritis in the knee joints, like her mother who had previously underwent replacement knee surgery. There was no valgus component which is often reported. As osteoarthritis in Stickler syndrome is more frequently seen in weight-bearing joints like the hips or knee, this, coupled to the other skeletal features of a pectus carinatum and scoliosis and the myopia were compatible with a diagnosis of Stickler syndrome [6Rose PS, Ahn NU, Levy HP , et al. Thoracolumbar spinal abnormalities in Stickler syndrome. Spine (Phila Pa 1976) 2001; 26(4): 403-9.].

This case report highlights that detailed personal and familial history and full clinical evaluation are crucial to making diagnosis in patients with unusual symptom presentation. The importance of timely diagnoses for hereditary disorders, cannot be emphasised enough to ensure adequate genetic counselling.

Furthermore, when reviewing the patient’s file from the orthopaedic department at the time of scoliosis surgery, it was discovered that a diagnosis of Stickler syndrome had been suggested, although no diagnostic confirmation was carried out. Despite this, the patient, her mother nor the patient’s GP were aware of this syndrome. This highlights the importance of proper transition of youngsters with serious diseases from paediatric into adult care.


DIP  =  Distal Interphalangeal
GP  =  General Practitioner
MCP  =  Metacarpophalangeal
PIP  =  Proximal Interphalangeal
RA  =  Rheumatoid Arthritis


The authors confirm that this article content has no conflict of interest.


We would like to express our gratitude to the patient for letting us use this medical information.


[1] Stickler GB, Belau PG, Farrell FJ , et al. Hereditary Progressive Arthro-Ophthalmopathy. Mayo Clin Proc 196; 40(6): 433-55.
[2] Snead MP, Yates Jr. Clinical and Molecular genetics of Stickler syndrome. J Med Genet 1999; 36(5): 353-9.
[3] Rai A, Wordsworth P, Coppock JS, Zaphiropoulos GC, Struthers GR. Hereditary arthro-ophthalmopathy (Stickler syndrome): a diagnosis to consider in familial premature osteoarthritis. Br J Rheumatol 1994; 33(12): 1175-80.
[4] Temple IK. Stickler's syndrome. J Med Genet 1989; 26(2): 119-26.
[5] Couchouron T, Masson C. Early-onset progressive osteoarthritis with hereditary progressive ophtalmopathy or Stickler syndrome. Joint Bone Spine 2011; 78(1): 45-9.
[6] Rose PS, Ahn NU, Levy HP , et al. Thoracolumbar spinal abnormalities in Stickler syndrome. Spine (Phila Pa 1976) 2001; 26(4): 403-9.
Track Your Manuscript:


"Open access will revolutionize 21st century knowledge work and accelerate the diffusion of ideas and evidence that support just in time learning and the evolution of thinking in a number of disciplines."

Daniel Pesut
(Indiana University School of Nursing, USA)

"It is important that students and researchers from all over the world can have easy access to relevant, high-standard and timely scientific information. This is exactly what Open Access Journals provide and this is the reason why I support this endeavor."

Jacques Descotes
(Centre Antipoison-Centre de Pharmacovigilance, France)

"Publishing research articles is the key for future scientific progress. Open Access publishing is therefore of utmost importance for wider dissemination of information, and will help serving the best interest of the scientific community."

Patrice Talaga
(UCB S.A., Belgium)

"Open access journals are a novel concept in the medical literature. They offer accessible information to a wide variety of individuals, including physicians, medical students, clinical investigators, and the general public. They are an outstanding source of medical and scientific information."

Jeffrey M. Weinberg
(St. Luke's-Roosevelt Hospital Center, USA)

"Open access journals are extremely useful for graduate students, investigators and all other interested persons to read important scientific articles and subscribe scientific journals. Indeed, the research articles span a wide range of area and of high quality. This is specially a must for researchers belonging to institutions with limited library facility and funding to subscribe scientific journals."

Debomoy K. Lahiri
(Indiana University School of Medicine, USA)

"Open access journals represent a major break-through in publishing. They provide easy access to the latest research on a wide variety of issues. Relevant and timely articles are made available in a fraction of the time taken by more conventional publishers. Articles are of uniformly high quality and written by the world's leading authorities."

Robert Looney
(Naval Postgraduate School, USA)

"Open access journals have transformed the way scientific data is published and disseminated: particularly, whilst ensuring a high quality standard and transparency in the editorial process, they have increased the access to the scientific literature by those researchers that have limited library support or that are working on small budgets."

Richard Reithinger
(Westat, USA)

"Not only do open access journals greatly improve the access to high quality information for scientists in the developing world, it also provides extra exposure for our papers."

J. Ferwerda
(University of Oxford, UK)

"Open Access 'Chemistry' Journals allow the dissemination of knowledge at your finger tips without paying for the scientific content."

Sean L. Kitson
(Almac Sciences, Northern Ireland)

"In principle, all scientific journals should have open access, as should be science itself. Open access journals are very helpful for students, researchers and the general public including people from institutions which do not have library or cannot afford to subscribe scientific journals. The articles are high standard and cover a wide area."

Hubert Wolterbeek
(Delft University of Technology, The Netherlands)

"The widest possible diffusion of information is critical for the advancement of science. In this perspective, open access journals are instrumental in fostering researches and achievements."

Alessandro Laviano
(Sapienza - University of Rome, Italy)

"Open access journals are very useful for all scientists as they can have quick information in the different fields of science."

Philippe Hernigou
(Paris University, France)

"There are many scientists who can not afford the rather expensive subscriptions to scientific journals. Open access journals offer a good alternative for free access to good quality scientific information."

Fidel Toldrá
(Instituto de Agroquimica y Tecnologia de Alimentos, Spain)

"Open access journals have become a fundamental tool for students, researchers, patients and the general public. Many people from institutions which do not have library or cannot afford to subscribe scientific journals benefit of them on a daily basis. The articles are among the best and cover most scientific areas."

M. Bendandi
(University Clinic of Navarre, Spain)

"These journals provide researchers with a platform for rapid, open access scientific communication. The articles are of high quality and broad scope."

Peter Chiba
(University of Vienna, Austria)

"Open access journals are probably one of the most important contributions to promote and diffuse science worldwide."

Jaime Sampaio
(University of Trás-os-Montes e Alto Douro, Portugal)

"Open access journals make up a new and rather revolutionary way to scientific publication. This option opens several quite interesting possibilities to disseminate openly and freely new knowledge and even to facilitate interpersonal communication among scientists."

Eduardo A. Castro
(INIFTA, Argentina)

"Open access journals are freely available online throughout the world, for you to read, download, copy, distribute, and use. The articles published in the open access journals are high quality and cover a wide range of fields."

Kenji Hashimoto
(Chiba University, Japan)

"Open Access journals offer an innovative and efficient way of publication for academics and professionals in a wide range of disciplines. The papers published are of high quality after rigorous peer review and they are Indexed in: major international databases. I read Open Access journals to keep abreast of the recent development in my field of study."

Daniel Shek
(Chinese University of Hong Kong, Hong Kong)

"It is a modern trend for publishers to establish open access journals. Researchers, faculty members, and students will be greatly benefited by the new journals of Bentham Science Publishers Ltd. in this category."

Jih Ru Hwu
(National Central University, Taiwan)

SCImago Journal Ranking

SCImago Journal & Country Rank

Browse Contents

Table of Contents

Webmaster Contact:
Copyright © 2020 Bentham Open