scholarly journals Rheumatoid Arthritis and CLOVES Syndrome: A Tricky Diagnosis

Diagnostics ◽  
2020 ◽  
Vol 10 (7) ◽  
pp. 467
Author(s):  
Laura Damian ◽  
Andrei Lebovici ◽  
Cristina Pamfil ◽  
Cristina Belizna ◽  
Romana Vulturar
Keyword(s):  
Rheumatoid Arthritis ◽  
Venous Malformation ◽  
Pik3ca Mutation ◽  
Young Female ◽  
Leg Length ◽  
Clinical Criteria ◽  
Activating Mutations ◽  
Dysmorphic Features ◽  
History Of ◽  
Citrullinated Peptide

The PI3K/AKT/mTOR signaling pathway is significantly activated in rheumatoid arthritis. In addition, somatic activating mutations of the PI3K/AKT/mTOR pathway may result in PIK3CA-related overgrowth spectrum diseases, including CLOVES (Congenital Lipomatous Overgrowth, Vascular malformation, Epidermal nevi, Skeletal abnormalities/Scoliosis) syndrome. We describe the case of a young female patient, with anti-citrullinated peptide antibodies-positive rheumatoid arthritis, referred for persistent finger pain and stiffness. Examination revealed discrete macrodactyly involving two fingers, scoliosis, asymmetrical calves, venectasias, a shoulder nevus and triangular feet with a “sandal gap” between two toes. These mild dysmorphic features with early-onset and the history of surgeries for thoracic lipoma and venous malformation were strongly suggestive of CLOVES syndrome. Confirmatory mutation analysis was not performed, as blood or saliva testing is not contributive for tissue-specific localized effects in the PIK3CA-related overgrowth spectrum. Nevertheless, lack of detection of a PIK3CA mutation does not exclude the diagnosis in patients fulfilling clinical criteria. Due to the patient’s wish to plan a pregnancy, therapy consisted in sulfasalazine and hydroxychloroquine, along with orthotic correction of leg length discrepancy. Overgrowth syndromes and arthritis may share common pathways. Mild macrodactyly should be differentiated from dactylitis. Diagnosing patients with minimal dysmorphic features within the PI3K-related overgrowth spectrum may help design better care strategies, in the quest for personalized medicine.

scholarly journals Tofacitinib Citrate for Ulcerative Keratitis in a Patient with Rheumatoid Arthritis

2014 ◽  
Vol 2014 ◽  
pp. 1-3 ◽  
Author(s):  
Philip B. Meadow ◽  
Jacqueline Nguyen ◽  
Keerthana Kesavarapu
Keyword(s):  
Rheumatoid Arthritis ◽  
Reactive Protein ◽  
Laboratory Values ◽  
Body Sensation ◽  
History Of ◽  
Blurry Vision ◽  
Citrullinated Peptide ◽  
Preservative Free ◽  
Ulcerative Keratitis ◽  
Normal Laboratory

Purpose.To report a case of a patient with rheumatoid arthritis (RA) treated with tofacitinib citrate.Methods.Observational case report.Results.A 59-year-old patient, with a history of rheumatoid arthritis, on methotrexate 10 mg PO qwk and IV abatacept 750 mg/month, presented with photosensitivity, foreign body sensation, pain, redness, and blurry vision of her right eye (RE). Visual acuity of the RE was 20/200 and 20/20 of the left eye (LE). The slit lamp examination of the RE revealed dryness, 2+ injection of the conjunctiva, and pericentral ulceration of the cornea with 20–30% stromal thinning, pannus, and diffuse punctate epithelial erosions. The anterior chamber appeared normal. Laboratory values revealed elevated levels of rheumatoid factor, anticyclic citrullinated peptide antibodies, and C-reactive protein. The patient was switched to tofacitinib citrate 5 mg PO b.i.d, underwent corneal gluing, and was given prednisone acetate 1% gt TID, polytrim gt TID, neomycin-polymyxin-dexameth gt QD, FreshKote lubricant 1.8% gt QID, moxifloxacin 0.5% gt QID, and preservative free artificial tears Q1H. Within one week, laboratory values normalized, symptoms diminished, and the cornea reepithelialized.Conclusion.RA can present with ulcerative keratitis. Tofacitinib citrate, steroids, and corneal gluing were found to halt the progression of keratolysis and promote reepithelialization.

Quantifying anti-cyclic citrullinated peptide titres: clinical utility and association with tobacco exposure in patients with rheumatoid arthritis

2008 ◽  
Vol 68 (2) ◽  
pp. 201-208 ◽  
Author(s):  
D M Lee ◽  
R Phillips ◽  
E M Hagan ◽  
L B Chibnik ◽  
K H Costenbader ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Smoking History ◽  
Demographic Information ◽  
Tobacco Exposure ◽  
C Reactive Protein ◽  
Rheumatology Clinic ◽  
Reactive Protein ◽  
Antibody Titres ◽  
History Of ◽  
Citrullinated Peptide

Objective:To determine the significance of quantitative levels of antibodies to cyclic citrullinated peptides (anti-CCP) in a population of patients with rheumatoid arthritis (RA).Methods:A total of 241 consecutive sera from patients with RA sent from a large rheumatology clinic for laboratory testing were selected for precisely quantifying anti-CCP antibody titres with the anti-CCP2 assay. Patient charts were reviewed for demographic information, smoking history, clinical diagnosis, rheumatoid factor (RF) titre, radiographic information and other laboratory information (erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) level). Correlations with anti-CCP titre and RF titre, disease parameters and smoking history were assessed.Results:We confirm previous findings that anti-CCP seropositivity is associated with a higher incidence of erosions in patients with RA (56% vs 20% CCP+ vs CCP−, κ = 0.297, p<0.001). We also found a moderate correlation between anti-CCP titre and RF titre. However, we failed to find an association between anti-CCP titre and presence of erosions, between anti-CCP titre and CRP or ESR level, or between anti-CCP titre and age or disease duration. Interestingly, we did find significantly higher anti-CCP titres in patients with a history of smoking (452 units/ml vs 229 units/ml, smokers vs non-smokers, respectively; p = 0.02).Conclusions:Although anti-CCP titres were not associated with clinical parameters of disease, they are increased in patients with RA with exposure to tobacco. By contrast, no elevation in RF was noted in patients with a history of smoking. These observations are consistent with a pathogenic contribution of smoking to RA and suggest the immune stimulus for anti-CCP is distinct from that for RF.

Rheumatoid arthritis in a patient with cystic fibrosis: challenging treatment options

2020 ◽  
Vol 13 (9) ◽  
pp. e234305
Author(s):  
Kelly Lynn Delaney-Nelson ◽  
Sheena Marie Henry ◽  
Chokkalingam Siva
Keyword(s):  
Rheumatoid Arthritis ◽  
Cystic Fibrosis ◽  
Joint Pain ◽  
Treatment Options ◽  
Infection Risk ◽  
X Rays ◽  
Hands On ◽  
History Of ◽  
Citrullinated Peptide ◽  
Active Synovitis

A 26-year-old Caucasian male patient with a history of cystic fibrosis presented with a 6-month history of diffuse joint pain and swelling. He was found to have active synovitis in bilateral wrists and proximal interphalangeal joints of the hands on physical examination. He was diagnosed with seropositive rheumatoid arthritis since he had positive anti-cyclic citrullinated peptide antibodies and erosions on hand and foot X-rays. The patient has responded well to abatacept which may have less infection risk compared with other biological therapies.

scholarly journals Genetic Factors of Predisposition and Clinical Characteristics of Rheumatoid Arthritis in Russian Patients

2021 ◽  
Vol 11 (6) ◽  
pp. 469
Author(s):  
Ekaterina A. Vetchinkina ◽  
Dmitry S. Mikhaylenko ◽  
Ekaterina B. Kuznetsova ◽  
Tatiana A. Deryagina ◽  
Ekaterina A. Alekseeva ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Disease Risk ◽  
Risk Groups ◽  
Clinical Criteria ◽  
Reactive Protein ◽  
Small Influence ◽  
Targeted Ngs ◽  
Next Generation Sequencing Ngs ◽  
Citrullinated Peptide ◽  
Generation Sequencing

Rheumatoid arthritis (RA) is a multifactorial disease caused by a genetic predisposition and environmental factors. Predisposing alleles of various genes have a relatively small influence on the disease risk when they appear separately, but in combination, they predispose an individual to RA development. We genotyped 125 patients with RA including 60 SNPs and sequenced coding part of six genes by next-generation sequencing (NGS) technology on a target panel (IAD177464_185). According to our data, the alleles HLA-DRB1*04, HLA-DRB1*01, HLA-B*27, PTPN22 (rs2476601), TNF (rs1800629), TPMT (rs2842934), and IL4 (rs2243250), and genotypes HLA-DRB1*04:04, HLA-DRB1*01:16, PTPN22 (rs2476601), TPMT (rs2842934), were significantly associated with the RA development. Associations with clinical criteria (DAS28-CRP, HAQ-DI, and CDAI) and biochemical factors were investigated. We have shown that the PADI4 genotypes (rs11203367, rs2240340, rs11203366, and rs874881) are significantly associated with the baseline levels of DAS28-CRP, HAQ-DI, and CDAI; genotypes IL23R (rs7530511) and TNFRSF1A (rs748004, rs2228144) with the level of anti citrullinated peptide antibodies (ACPA); the genotypes DHODH (rs3213422) and MTHFR (rs180113) with the concentration of C-reactive protein (CRP); and the genotypes IL2RA (rs2104286), IRAK3 (rs11541076), and IL4R (rs1801275) with the level of rheumatoid factor (RF). Application of targeted NGS panel contributes to expanded genotyping to identify risk groups among the RA patients.

Diagnosis and prognosis of early rheumatoid arthritis, with special emphasis on laboratory analysis

2006 ◽  
Vol 44 (2) ◽  
Author(s):  
Rudolf Mierau ◽  
Ekkehard Genth
Keyword(s):  
Rheumatoid Arthritis ◽  
Clinical Presentation ◽  
Morning Stiffness ◽  
Specific Information ◽  
Rheumatoid Factors ◽  
Radiological Progression ◽  
Clinical Criteria ◽  
Diagnosis And Prognosis ◽  
Hands And Feet ◽  
Citrullinated Peptide

AbstractDiagnosis of rheumatoid arthritis (RA) is mainly based on clinical criteria of symmetric polyarthritis of the hands and feet, with morning stiffness lasting usually more than 1h. Autoantibodies typical for RA, i.e., rheumatoid factors and anti-cyclic citrullinated peptide, and measurements of inflammation add more specific information, especially for early diagnosis, where clinical presentation may be oligosymptomatic involving only a few joints. These laboratory parameters are also relevant for prognosis of disease persistence, functional impairment and radiological progression.

Refractory Ascites as the Only Presenting Symptom of Chronic Calcified Constrictive Pericarditis: A Diagnostic Challenge

2014 ◽  
Vol 17 (1) ◽  
pp. 42
Author(s):  
Shi-Min Yuan
Keyword(s):  
Computed Tomography ◽  
Liver Cirrhosis ◽  
Female Patient ◽  
Constrictive Pericarditis ◽  
Delayed Diagnosis ◽  
Young Female ◽  
Refractory Ascites ◽  
Diagnostic Challenge ◽  
Massive Ascites ◽  
History Of

Extracardiac manifestations of constrictive pericarditis, such as massive ascites and liver cirrhosis, often cover the true situation and lead to a delayed diagnosis. A young female patient was referred to this hospital due to a 4-year history of refractory ascites as the only presenting symptom. A diagnosis of chronic calcified constrictive pericarditis was eventually established based on echocardiography, ultrasonography, and computed tomography. Cardiac catheterization was not performed. Pericardiectomy led to relief of her ascites. Refractory ascites warrants thorough investigation for constrictive pericarditis.

Safety of a Clozapine Trial Following Quetiapine-Induced Leukopenia: A Case Report

2019 ◽  
Vol 14 (1) ◽  
pp. 80-83 ◽  
Author(s):  
Asma H. Almaghrebi
Keyword(s):  
Treatment Options ◽  
Young Female ◽  
Similar Reaction ◽  
Careful Monitoring ◽  
Treatment Resistant ◽  
Blood Cell Count ◽  
Antipsychotic Medications ◽  
Case Presentation ◽  
Clozapine Treatment ◽  
History Of

Background: The clozapine-derivative quetiapine has been shown in some cases to cause leukopenia and neutropenia. Case Presentation: We reported on a case of a young female diagnosed with treatment-resistant schizophrenia. After failed trials of three antipsychotic medications and despite a history of quetiapineinduced leukopenia, clozapine treatment was introduced due to the severity of the patient’s symptoms, the limited effective treatment options, and a lack of guidelines on this issue. Result: Over a ten-week period of clozapine treatment at 700 mg per day, the patient developed agranulocytosis. Her white blood cell count sharply dropped to 1.6 &#215; 10<sup>9</sup> L, and her neutrophils decreased to 0.1 &#215; 10<sup>9</sup> L. There had been no similar reaction to her previous medications (carbamazepine, risperidone, and haloperidol). Conclusion: The safety of clozapine in a patient who has previously experienced leukopenia and neutropenia with quetiapine requires further investigation. Increased attention should be paid to such cases. Careful monitoring and slow titration are advisable.

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