Diagnosis Of Relapsing Polychondritis Research Articles

FDG PET/CT in an Interesting Case of Paraneoplastic Relapsing Polychondritis Associated With Adenocarcinoma of the Lung.

Relapsing polychondritis (RP) is an uncommon autoimmune disease that causes inflammation of the cartilage and proteoglycan-rich structures, including the ear, nose, and airway. Paraneoplastic RP is a subset of RP that occurs in some individuals following the detection and treatment of certain types of cancers. FDG PET/CT helps with early diagnosis of RP, identifying inflammatory areas even in the absence of symptoms, and guiding the selection of appropriate biopsy sites. Here, we present a case of adenocarcinoma of the lung presenting with paraneoplastic symptoms of RP as initial presentation, and symptoms were resolved after 3 cycles of chemotherapy.

Relapsing Polychondritis Masquerading as Auricular Pseudolymphoma: Case Report and Literature Review

Relapsing Polychondritis (RP) is a rare autoimmune disease associated with recurring inflammatory episodes predominantly affecting cartilage and other tissues throughout the body, including proteoglycan-rich structures. It is characterized by gradual deformation of tissue that leads to impairment of normal function. Areas involved include, but are not limited to, the respiratory tract, eyes, nose, joints, and vascular system. The inflammation targets cartilage, most commonly causing auricular and nasal chondritis but can involve cartilage throughout the body. Diagnosis of RP is often hindered by the vast variety of symptoms associated with this systemic disease and subtle symptomatology. In this paper, we demonstrate a case of relapsing polychondritis masquerading as pseudolymphoma and review recent literature relating to pathogenesis, diagnosis and treatment.

Relapsing polychondritis (clinical observations)

Relapsing polychondritis (RPC) is an autoimmune disease manifested by both repeated attacks and a persistent inflammatory process with progressive destruction of cartilaginous structures, in particular, chondritis of the ears, nose, larynx, bronchi, and joints. RPC is a rare disease (about 1000 cases have been described worldwide). Diagnosis of RPC and the choice of treatment tactics are very difficult, which is associated with the rarity of the pathology, undulating, unpredictable course, and the lack of specific laboratory markers.The clinical observations presented in the article confirm the complexity of diagnosing RPC. Before the disease was verified, both patients repeatedly consulted different specialists: the first patient was diagnosed 3 months after the onset of characteristic symptoms of RPC, and the second patient – 1.5 years later. Late diagnosis and the lack of a unified approach to treatment were the reason for the development of prognostically unfavorable lesions in the second patient – chondritis and perichondritis of the larynx.

Development and validation of diagnostic and activity-assessing models for relapsing polychondritis based on laboratory parameters.

Relapsing polychondritis (RP) as a rare autoimmune disease is characterized by recurrent inflammation of the organs containing cartilage. Currently, no biomarkers have been integrated into clinical practice. This study aimed to construct and evaluate models based on laboratory parameters to aid in RP diagnosis, assess activity assessment, and explore associations with the pathological process. RP patients and healthy controls (HCs) were recruited at the Peking Union Medical College Hospital from July 2017 to July 2023. Clinical data including Relapsing Polychondritis Disease Activity Index (RPDAI) score and laboratory tests were collected. Differences in laboratory data between RP patients and HCs and active and inactive patients were analyzed. The discovery cohort (cohort 1) consisted of 78 RP patients and 94 HCs. A model based on monocyte counts and neutrophil to lymphocyte ratio (NLR) could effectively distinguish RP patients from HCs with an AUC of 0.845. Active RP patients exhibited increased erythrocyte sedimentation rate, complement 3, platelet to lymphocyte ratio (PLR), NLR, and C-reactive protein to albumin ratio (CAR) compared with stable patients, which were also positively correlated with RPDAI. Notably, CAR emerged as an independent risk factor of disease activity (OR = 4.422) and could identify active patients with an AUC of 0.758. To confirm the reliability and stability of the aforementioned models, a replication cohort (cohort 2) was enrolled, including 79 RP patients and 94 HCs. The monocyte-combined NLR and CAR showed a sensitivity of 0.886 and 0.577 and a specificity of 0.830 and 0.833 in RP diagnosis and activity prediction, respectively. Furthermore, lower natural killer cell levels in RP patients and higher B-cell levels in active patients may contribute to elucidating the pathological mechanisms of disease occurrence and exacerbation. The utilization of laboratory parameters provides cost-effective and valuable markers that can assist in RP diagnosis, identify disease activity, and elucidate pathogenic mechanisms.

The association of relapsing polychondritis and spondylarthritis – three case reports

Background. Relapsing polychondritis (RP) is characterized by recurrent episodes of progressive inflammation that lead to the destruction of cartilaginous structures. The etiopathogenesis is not fully elucidated, but it seems to be an immune-mediated mechanism directed against type 2 collagen. Case reports. We present a series of 3 clinical cases, which associate RP and spondylarthritis – a woman with psoriatic arthritis (PsA) and two men with ankylosing spondylitis (AS). All cases presented with auricular chondritis, which is the emblem of RP. In the PsA case, RP presented typically, with recurrent auricular chondritis, manifested clinically with a cauliflower-like appearance of the ears. In one of the AS cases, a paradoxical immune reaction related to biological therapy was considered in the differential diagnosis of RP. In the other AS case, the patient had a single episode of chondritis, the recurrence of the disease remains to be proved. Conclusions. The diagnosis of RP is usually based on clinical evidence and the elimination of differential diagnoses, since there is no specific laboratory or imaging test. In 20-30% of cases, RP is associated with other conditions, most frequently with vasculitis, but the association of RP with spondylarthritis is rare.

RED EARS, RED EYES AND HEARING LOSS: A DIAGNOSTIC DILEMMA

Relapsing polychondritis (RP) is a disease that confounds clinicians worldwide due to the difficulty in confirming its diagnosis and determining the best treatment plan. We report a case of a 34-year-old lady who presented with bilateral inflamed auricular swelling and red eyes, which turned out to be relapsing polychondritis. The patient was successfully treated with long-term oral steroids and is on regular follow-up. This report highlights how the subtle signs of her condition were picked up, leading to her diagnosis of RP and the treatment regime that successfully reversed her symptoms. The challenge of picking up subtle signs of the disease is best met by working as a team in a multidisciplinary setting. A literature study shows that RP is a rare disease that can present with many symptoms.

The ocular manifestations of relapsing polychondritis.

Relapsing polychondritis (RPC) is a rare, multi-system, inflammatory disorder. Ocular disease is estimated to occur in 14-67% of patients with RPC, and any ocular structure can be affected. Published case reports and series of RPC were analysed to determine the frequency and nature of the ocular manifestations of RPC, including the age and gender distribution. A literature search of the MEDLINE database for case reports and series on RPC was conducted in October 2021 using search terms [relapsing polychondritis (MeSH Major Topic)] OR [relapsing polychondritis (Title/Abstract)]. Articles were included if the diagnosis of RPC was confirmed using established diagnostic criteria and if the paper described the clinical features of patients with RPC. 546 articles (454 case reports and 92 case series) described the clinical features in a total of 2414 patients with RPC. 49% of patients with RPC had ocular involvement, and this was a presenting feature in 21%. The most common ocular manifestations were scleritis (32%), episcleritis (31%) and uveitis (23%). Many patients with RPC will be seen by an ophthalmologist during the course of their disease. Knowledge and awareness of RPC and its ocular manifestations is therefore essential to enable the ophthalmologist to make the diagnosis.

COVID-19, a phantomatic trigger for relapsing polychondritis

Relapsing polychondritis (RP) is an auto-immune disease which affects the cartilaginous parts of sites like the ear, nose or upper respiratory tract. The condition can also involve other cartilage-containing structures such as the eyes, joints, the heart, kidneys and central nervous system. Early diagnosis of RPis essential for preventing significant damage to vital organs that can lead to increased morbi-mortality rates. First-line therapy in RP is systemic glucocorticoids, while in refractory cases monoclonal antibodies can be used despite scarcity of efficacy data available in published literature. The link between RP and neoplasia, especially hematological malignancy, should not be omitted when screening patients with suspicion of RP diagnosis. The onset of COVID-19 pandemic has generated a new source of immune mediated pathologies, such as small vessel vasculitis, immune thrombocytopenic purpura or Guillain-Barre syndrome and other auto-inflammatory syndromes triggered by COVID-19 seem to unveil. The present case depicts a female patient who presented with erythematous and painful areas of her right ear after priorly experiencing similar episodes in both ears and nose bridge shortly after having the COVID-19 vaccine booster dose.

Coexistence of Relapsing Polychondritis and Sickle Cell Disease in a Child

Relapsing polychondritis (RP) is a rare, severe connective tissue disease of unknown etiology affecting cartilaginous and proteoglycan-rich structures in an episodic and inflammatory manner. Approximately a third of RP cases occur in conjunction with another disease usually systemic autoimmune rheumatic disease, or myelodysplastic syndrome. Sickle cell disease (SCD) is a common inherited hematologic condition characterized by the inheritance of two abnormal hemoglobins, of which one is a hemoglobin S, presenting with severe acute and chronic complications from vaso-occlusive phenomena, which can be difficult to differentiate from RP. The pathogenesis of RP is poorly understood but suggests an autoimmune mechanism with a link to sickle cell disease yet to be established. Treatment is empiric with steroids, anti-inflammatory, and disease-modifying antirheumatic drugs being the mainstay of therapy. Severe complications occur despite treatment, with respiratory involvement being the most catastrophic. This case report reviews a complex case of RP in an 11-year-old girl with sickle cell disease (SF genotype) presenting with bilateral red painful eyes, a painful swollen left ear, and knee pain. Laboratory findings revealed elevated inflammatory markers with negative immune serology. A diagnosis of RP was made based on the patient's symptomatology, presentation, and fulfillment of 5 out of the 6 clinical features using McAdam's criteria. Management was instituted with a myriad of conventional and biologic DMARDs and other anti-inflammatory medications with no significant improvement and the development of complications of airway obstruction from disease activity and osteoporotic fracture from steroid therapy and underlying hemoglobinopathy. In children, the diagnosis of RP is delayed or overlooked due to its low incidence, variability in clinical symptoms, or sharing similar clinical features with other coexisting disease entities. This article reports its occurrence in the pediatric population and highlights the difficulty in managing such cases as there are no defined standard treatment protocols.

Membranous nephropathy complicating relapsing polychondritis: A case report

Background: Relapsing polychondritis is a rare systemic disease characterized by recurrent inflammation, and often destruction, of cartilaginous tissues. Renal manifestations are rare. Membranous nephropathy complicating relapsing polychondritis has been reported only once previously, and there is no standardized treatment for membranous nephropathy associated with relapsing polychondritis. Case presentation: A 67-year-old Caucasian man with a history of chronic renal disease presented with 9 months of progressive dyspnea on exertion and 5 months of erythema, pain, and collapse of auricular cartilage. Imaging studies confirmed active inflammation of laryngeal, auricular, and costal cartilage and he was diagnosed with relapsing polychondritis. Patient had longstanding proteinuria and renal biopsy demonstrated membranous nephropathy. Patient initially showed renal and respiratory improvement with etanercept, a tumor necrosis factor alpha inhibitor, treatment. However, subsequent disease and treatment-related complications led to a progressive overall clinical decline and patient died approximately 1 year following relapsing polychondritis diagnosis. Conclusion: Membranous nephropathy may rarely complicate relapsing polychondritis. In our case, both the cartilaginous inflammation and the renal disease improved after treatment with tumor necrosis factor alpha blockade, however complications of existing airway disease led to recurrent hospitalizations and eventually death.

Diagnosing relapsing polychondritis remains a common challenge: experience from a Chinese retrospective cohort.

The diagnosis of relapsing polychondritis (RP) is often mistaken or delayed. In this retrospective cohort, we aimed to unveil the causes responsible for such phenomenon, to determine the associated factors, and to compare diagnosis in clinical settings with the current diagnostic criteria. Eighty-seven RP patients followed-up by rheumatologists from January 1, 2008, to October 31, 2018, were retrospectively analyzed. A total of 50 male and 37 female patients were included with a mean age of 45.9 ± 14.5 years. Ninety-three percent were initially admitted by non-rheumatologic specialists .Twenty-eight percent were correctly diagnosed, while 72% were misdiagnosed at the first visits, all by non-rheumatologic specialists. Patients admitted by non-rheumatologic specialists had increased odds of misdiagnosis (odds ratio [OR] = 1.3, 95% confidence interval [95% CI] 1.1-1.7, P = 0.000). Fifty-seven (65.5%) patients did not meet with Michet or Damiani criteria, with 16 (18.4%) patients diagnosed as partial RP and 41( 47.1%) patients diagnosed as limited RP. Incorrect and delayed diagnosis of RP is common in our cohort, and insufficient awareness of the disease in non-rheumatologic specialists at least partially contributes to this. It is imperative to revise the current criteria for early diagnosis.Key Points• Diagnosing relapsing polychondritis (RP) in early stage remains challenging after all these years, especially among non-rheumatologic specialists, indicating the importance of teaching non-rheumatologic specialists to improve their understanding of this rare disease.• Many RP patients did not fully meet with the current criteria, suggesting that revision of the current criteria is imperative for early diagnosis of this rare disease.

Patient-perceived Burden of Disease in Pediatric Relapsing Polychondritis.

To assess patient-reported burden of disease in pediatric patients with relapsing polychondritis (RP) and to compare those findings to adult patients. A survey based on known clinical symptoms of RP was developed and administered to patients with a pediatric diagnosis of RP. Adult patients completed a similar survey. Twenty-one pediatric patients, or their parents, completed surveys. Median age at symptom onset was 6 years (interquartile range 1.8-12). Prior to diagnosis, most pediatric patients went to the emergency room (ER; 61.9%), saw > 3 physicians (57.1%), and took > 1 year to be diagnosed (61.9%). Pediatric patients were often diagnosed with asthma (42.9%), ear infections (42.9%), or sinusitis (33.3%) prior to diagnosis of RP. Symptoms prior to diagnosis included ear pain/redness (85.7%), joint pain/swelling (61.9%), and airway symptoms (38.1%). Four pediatric patients (19%) reported tracheomalacia requiring tracheostomy. Pediatric patients frequently missed school because of their disease (71.4%). Surveys from 290 adult patients were compared to pediatric patients. Pediatric patients were significantly more likely to undergo biopsy (42.9% vs 17.4%; p < 0.01) and be treated with biologics (42.9% vs 19%; p = 0.02). Adults were significantly more likely to be female (87.8% vs 28.6%; p < 0.01) and to report airway symptoms (77.9% vs 47.6%; p = 0.01). Prevalence of disease complications was not significantly different between adult and pediatric patients. The burden of disease in pediatric patients with RP includes missed school, diagnostic delay, ER visits, and multisystem disease, with resultant damage to cartilaginous structures. Differences in airway involvement and treatment approaches may exist between pediatric and adult patients.

Eyelid edema in relapsing polychondritis

Relapsing polychondritis (RP) is a multisystem inflammatory disease affecting all types of cartilage and proteoglycan-rich tissues with recurrent bouts of inflammation resulting in tissue damage. The pleomorphic nature, the wide spectrum of clinical features and insidious onset of the disease makes the diagnosis of RP a challenge for clinicians. Eyelid edema is a recognized manifestation of this disease frequently in association with inflammation in other parts of eyes. This case highlights eyelid edema in a patient who presented primarily with chondritis of the pinna, which subsided with steroids.

Pathogenetic mechanisms of biological agents in managing of relapsing polychondritis

Relapsing polychondritis (RPC) is an autoimmune disease characterized by the inflammation of cartilaginous tissues and other proteoglycan rich tissues. A concomitant disease, particularly myelodysplasia or systemic autoimmune disease can be detected in one-third of the patients with RPC. Unlike adults in children, RPC is less often associated with other autoimmune diseases. The diagnosis of RPC is established using the criteria of Mc Adam (1976) or Damiani (1979). The basis of the pathogenesis of RPC is an autoimmune reaction, which is initially directed against cartilage and then spreads to non-cartilaginous tissues. One of the elements in the pathogenesis of RPC is the mechanical trauma of cartilage, resulting in the release of pro-inflammatory cytokines (tumor necrosis factor alpha, interferon-γ, interleukin-8, and macrophage inflammatory protein 1) and local inflammation followed by the formation of autoantibodies in a patient with a genetic predisposition. In the treatment of RPC, steroids, non-steroidal anti-inflammatory drugs, colchicine are used and, if they are ineffective, immunosuppressants are prescribed. The most effective anti-cytokine drugs used in the treatment of RPC are tumor necrosis factor-alpha (TNF-α) inhibitors, IL-1 receptor antagonists, an inhibitor of the costimulatory pathway of T-lymphocyte activation, monoclonal antibodies against the IL-6 receptor. Given the fact that management of these patients is very complex, the aim of the study is to review available data on pathogenetic mechanisms of biological agents in managing of relapsing polychondritis.

A case of crescentic glomerulonephritis associated with relapsing polychondritis

Relapsing polychondritis (RP) is a rare autoimmune disease, characterized by recurrent inflammatory episodes affecting various carttilageus structures. Renal involvement in RP is unusual. Our case was a 42-year old woman presented with nephretic syndrome. Diagnosis of RP was made because of recurrent chondritis of both auricles, chondritis of costovertebral joints, non-erosive inflammatory arthritis of knees, and inflammation of ocular structures. Renal biopsy findings revealed diffuse crescentic and sclerotic glomerulonephritis, pauciimmune type. The diagnosis of RP may be missed when the destructive cartilage feature is not apparent or rare presentation of disease such as ocular or renal involvement preceded other manifestations. In this case we found that the irregular prednisolone use may prevent destructive cartilage damage but not renal failure of patient. We concluded that the association of crescentic glomerulonephritis in a patient with RP was assumed to be a rare manifestation of this disease.

A rare cause of bilateral sudden deafness

Introduction Diagnostic delay in relapsing polychondritis (RP) is in part explained by the fact that, by definition, the disease has to relapse before the diagnosis can be made, but also by its pluriform clinical presentation: auricular chondritis, arthritis and respiratory tract involvement are the most common signs in RP. Sensorineural hearing loss and vestibular dysfunction, as observed in the case we will describe, are less common, and facial nerve involvement is rare. Furthermore, this case is one of very few in which a cochlear implant was indicated after sudden deafness caused by RP. Case description In this case, we describe a 62-year-old female with recurring episodes of sudden deafness, vertigo and facial paresis. Within a month's time, this resulted in bilateral deafness and vestibular areflexia. Erroneously, the patient was diagnosed and treated as having sudden deafness of unknown origin and subsequently neuroborreliosis (Lyme disease). The true diagnosis of RP was revealed 9 months after initial presentation after the patient was referred to our department for cochlear implantation. At this time, an episode of a red and swollen ear occurred, which prompted further examination and subsequent diagnosis. During cochlear implantation, the base of the cochlea was found to be partially calcified. Insertion and hearing rehabilitation were however successful. Results and conclusions Timely identification of RP as the cause of this profound sensorineural hearing loss proved to be important. Not only in order to provide suitable follow-up, but because of the risk of cochlear obliteration, which had already begun in our patient and might have hampered optimal hearing rehabilitation. Our recommendation is to urgently refer any patient with bilateral sudden deafness to a cochlear implant center, especially when signs of postinflammatory calcification of the cochlea are identified, like it was in this case of RP. Take-home message Due to the pluriform presentation and relapsing nature of RP, patients almost never present with the 'full clinical picture' of RP. Because of this, different doctors of different disciplines (mostly general practitioners, otolaryngologists, ophtalmologists and rheumatologists) see different symptoms at different moments in time. Frequently, symptoms have initially been attributed to other forms of disease, and only careful history taking with attention to symptoms beyond the scope of one's own specialty, will reveal the diagnosis.

Aortic involvement in relapsing polychondritis

ObjectiveTo assess prevalence of aortic involvement in relapsing polychondritis (RP) patients; to evaluate clinical features and long-term outcome of RP patients exhibiting aortitis, aortic ectasia and/or aneurysm. MethodsOne hundred and seventy-two RP patients underwent aortic computed tomography (CT)-scan; they were seen in 3 medical centers. ResultsEleven patients (6.4%) had aortic involvement, occurring within a median time of 2 years after RP diagnosis. CT-scan showed isolated aortitis (n=2); the 9 other patients exhibited: aortitis and aortic aneurysm (n=2) or ectasia (n=1), isolated aortic aneurysm (n=4) or ectasia (n=2); aortic localizations were as follows: thoracic (n=6), abdominal (n=2), thoracic and abdominal (n=4) aorta. Patients exhibited: resolution (n=3) improvement (n=3), stabilization (n=4) or deterioration (n=1) of aortic localization. Five patients experienced recurrence of aortic localization; one patient died of aortic abdominal aneurysm rupture. Predictive factors of death related to aortic complications were: aortitis on CT-scan, higher median levels of erythrocyte sedimentation rate. Predictive parameters of aortic relapses were: aortitis on CT-scan and involvement of the abdominal aorta. ConclusionsThis study underlines that aortic involvement is severe in RP. Furthermore, we suggest that RP patients exhibiting poor prognostic factors, including panaortitis and higher values of ESR, may require more aggressive therapy.

Relapsing polychondritis in Singapore: a case series and review of literature.

This study aimed to describe the clinical presentation, treatment and outcome of patients with relapsing polychondritis (RP) who were seen at a large tertiary-care academic medical institution in Singapore. The medical records of all patients diagnosed with RP at the Department of Rheumatology and Immunology, Singapore General Hospital, Singapore, between 2005 and 2013 were reviewed. The diagnosis of RP was made using the modified McAdam criteria. Ten patients were diagnosed with RP during the study period. Among these patients, five fulfilled the modified McAdam criteria and five were probable cases of RP. The most common clinical presentations were auricular chondritis (n = 9), episcleritis or scleritis (n = 5), and large airway involvement (n = 3). All of the patients received prednisolone. Five patients developed haematological disorders. Patients with both RP and haematological disorders had a longer duration of RP symptoms prior to diagnosis, compared to patients with RP who did not develop haematological disorders (average duration of symptoms 14.7 months vs. 4.2 months). The high frequency of patients with haematological malignancies in this series was unexpected. Myelodysplastic syndrome has been reported, but other haematological malignancies are rarely associated with RP. As the association between haematological malignancies and RP is currently unclear, the threshold for haematological/lymphoproliferative screening should be lowered in patients with RP.

Scleritis associated with relapsing polychondritis

AimsTo evaluate ocular disease characteristics and successful therapeutic regimens in patients with scleritis associated with relapsing polychondritis (RP). To compare these features with those seen in patients with scleritis associated...

Relapsing polychondritis: A clinical update.

Relapsing polychondritis (RP) is a rare connective tissue disease in which recurrent bouts of inflammation, involve the cartilage of the ears, nose, larynx, tracheobronchial tree and cardiovascular system. RP is generally observed in the fourth and fifth decades of life and occurs with equal frequency in both sexes. The cause of RP is still unknown. It is considered an immune-mediated disease, as there is an overlap between well documented RP with other rheumatic and autoimmune diseases. There is a significant association of RP with the antigen HLA-DR4. RP includes loss of basophilic staining of cartilage matrix perichondral accompanied by inflammation of the cartilage. Cells are present perivascular mononuclear and polymorphonuclear cells infiltrated. The chondrocytes become vacuolated and necrotic and are replaced by fibrous tissue. Common symptoms are often absent in the early stages of the disease in almost half the cases, resulting in delay in diagnosis. The development of chondrite allows the diagnosis of RP in patients initially evaluated for joint abnormalities, ocular, cutaneous, or audio-vestibular. Diagnostic criteria for RP are based on characteristic clinical manifestations. According to Damiani and Levine, the diagnosis can be considered final when one or more of the clinical features are present in conjunction with biopsy confirmation. The course of symptoms for patients with relapsing polychondritis is often unpredictable. Patients with mild signs of acute inflammation are usually treated with non-steroidal anti-inflammatory drugs and small doses of prednisone. Patients with severe manifestations, such as airway compromise may require high doses of prednisone or even intravenous pulse methyl-prednisone.