Marfan syndrome (MFS) is an autosomal dominant disorder characterized by multisystem connective tissue involvement, affecting the cardiovascular, skeletal, and ocular systems. Here, we report the case of a 54-year-old male with diabetes and hypertension who presented with dizziness and left-sided facial numbness. Clinical evaluation revealed classic Marfanoid features, and cardiovascular examination identified a diastolic murmur. Echocardiography and computed tomography angiography showed a large aortic root aneurysm (6.2 cm), a dilated ascending aorta (7 cm), significant aortic regurgitation, and severe left ventricular dilation. The patient underwent valve-sparing ascending aortic root replacement (David-V procedure). Postoperative echocardiography revealed preserved ventricular function, but the patient developed sustained ventricular tachycardia, requiring cardioversion. This case highlights the complexity of managing MFS with severe aortic involvement, emphasizing the need for early diagnosis, multidisciplinary care, and postoperative arrhythmia management to prevent life-threatening complications.
Coexistence of axial spondyloarthritis (axSpA) and arachnoid cysts, especially in the intracranial region, is rare and infrequently described in the literature. This report presents the case of a 39-year-old male patient with axSpA who developed new-onset neurological symptoms, including left arm numbness and involuntary movements in the left hand, 6 months after initiating anti-tumor necrosis factor (TNF)-α therapy (certolizumab pegol). Cranial magnetic resonance imaging revealed an arachnoid cyst in the right frontotemporoparietal region. Anti-TNF-α therapy was discontinued, and an interleukin (IL)-17 inhibitor (secukinumab) was initiated, resulting in improvement in axSpA symptoms and no further progression in cyst size during follow-up. While a definitive causal link cannot be established, the temporal association between anti-TNF-α therapy and the onset of neurological symptoms raises the possibility that TNF-α inhibition may have acted as a permissive factor in unmasking or exacerbating a previously asymptomatic arachnoid cyst. This remains speculative but is biologically plausible, given TNF-α’s role in immune surveillance, tissue homeostasis, and inflammation. Although TNF-α inhibitors are effective in the treatment of axSpA, some studies have reported an increased risk of malignancies and other structural changes during therapy. In this context, it is conceivable that anti-TNF-α treatment may have contributed to changes in cyst behavior, potentially leading to symptom onset. By contrast, anti-IL-17 inhibitors, such as secukinumab, not only offer clinical efficacy in SpA but may also have a more favorable profile in patients with concurrent conditions, including those at risk for tumor progression.
Objective: The objective of the study was to evaluate the correlation between magnetic resonance imaging (MRI) findings and patient-reported disease activity scores – bath ankylosing spondylitis disease activity index (BASDAI), ankylosing spondylitis disease activity score (ASDAS) based on erythrocyte sedimentation rate (ASDAS-ESR), and C-reactive protein (ASDAS-CRP) – in patients with newly diagnosed axial spondyloarthritis (axSpA). Materials and Methods: A retrospective cross-sectional study was conducted at the Rheumatology Clinics of King Saud University Medical City. Forty-one patients with a confirmed diagnosis of axSpA based on MRI were included in the study. All participants completed BASDAI and ASDAS assessments within 1 year before imaging. MRI scans were reviewed for sacroiliitis and patterns of involvement. Correlations between imaging findings and disease activity scores were analyzed using the Statistical Package for the Social Sciences. Results: Active sacroiliitis was observed in 82.9% of patients, with 80.5% demonstrating bilateral lateral joint involvement on MRI. However, no statistically significant correlation was found between MRI findings and BASDAI, ASDAS-ESR, or ASDAS-CRP scores (P value ranging from 0.059 to 0.925). These results suggest a discrepancy between objective imaging and subjective clinical assessments. Conclusion: The absence of significant correlation between MRI-detected inflammation and patient-reported disease activity highlights the limitations of relying solely on subjective scoring tools in axSpA assessment. A multidimensional approach incorporating both clinical indices and imaging findings is essential for accurate disease evaluation and management.
Progressive pseudorheumatoid dysplasia (PPRD) is a rare genetic skeletal disorder characterized by the progressive degeneration of articular cartilage, resulting in joint pain, stiffness, and deformities. Due to its rarity, the majority of available knowledge comes from isolated case reports, with limited larger case series. This case report presents an 18-year-old female who was initially misdiagnosed with juvenile idiopathic arthritis due to overlapping joint symptoms and was referred for potential biologic therapy. The patient had a history of progressive joint pain and deformities starting at a young age. Genetic testing revealed a homozygous mutation in the CCN6 gene, confirming a diagnosis of autosomal recessive PPRD. PPRD should be considered when a patient presents with symmetrical joint involvement, characteristic knobby interphalangeal joints, and gait abnormalities, particularly in the absence of systemic inflammation. Radiological features, such as joint space narrowing and sclerosis, along with negative autoantibodies, can guide the diagnosis. Genetic testing, including the analysis of genomic DNA and mRNA, is crucial for confirmation. Early recognition of PPRD is essential to avoid unnecessary immunosuppressive treatments and to provide appropriate management, including symptom relief and orthopedic support.
Background: Inflammatory bowel disease (IBD) is a chronic gastrointestinal disorder with extra-intestinal manifestations (EIMs), including joint involvement. However, the relationship between joint symptoms and the natural progression of IBD in the pediatric population remains unclear. Objective: Therefore, this study aimed to evaluate the prevalence, characteristics, and impact of joint manifestations in children with IBD in a city with a low incidence. Materials and Methods: This cross-sectional retrospective study was conducted among pediatric patients (aged ≤18 years) with confirmed IBD. Data on joint manifestations and disease symptoms were collected from medical records. Descriptive statistics and comparative analyses were performed to assess the prevalence and characteristics of joint manifestations, and their association with disease activity and limitations in daily activities. Results: Sixteen patients with joint manifestations were included in this study. The most frequently affected joints were the knee (56.25%). Joint involvement was associated with limitations in daily activities in 43.8% of patients. No significant differences were observed in the distribution of joint manifestations between the patients with ulcerative colitis and those with Crohn’s disease. Conclusion: The association between joint involvement and markers of disease activity highlights the importance of comprehensive assessment and management of these EIMs in pediatric patients with IBD. By understanding and addressing joint manifestations in pediatric patients with IBD, healthcare providers can enhance the overall well-being and quality of life of this vulnerable population.
Background: Renal involvement is a common but often overlooked complication of rheumatological disorders, contributing to significant morbidity. Aim: This study aimed to determine the prevalence and spectrum of renal involvement in rheumatological diseases and identify associated clinical and laboratory features. Settings and Design: A hospital-based, cross-sectional observational study conducted at a tertiary care center in North India. Materials and Methods: Fifty consecutive adults with rheumatological disorders and renal manifestations were evaluated using clinical, laboratory, and immunological assessments, with renal biopsy where indicated. Results: Systemic lupus erythematosus was the most frequent underlying disease, with lupus nephritis predominating. Other patterns included drug-induced nephropathy and renovascular lesions. Autoimmune markers showed strong associations with specific renal pathologies. Conclusion: Renal involvement is frequent across rheumatological disorders, particularly in active disease. Routine screening and early recognition are essential to reduce renal morbidity.
Kimura disease (KD) is a rare chronic inflammatory disorder typically affecting young Asian males, making its occurrence in a middle-aged Saudi female highly unusual. We report the case of a patient with a history of multinodular goiter who developed recurrent right parotid swelling and was initially misdiagnosed with Hodgkin lymphoma following the incidental discovery of an epiglottic mass. Subsequent evaluation, including histopathological and immunohistochemical analyses of parotid and cervical lymph node biopsies, revealed features consistent with KD, such as reactive lymphoid follicles, eosinophilic infiltration, and vascular proliferation. Laboratory findings showed elevated eosinophil counts and markedly high IgE levels. Treatment with corticosteroids and mycophenolate mofetil resulted in complete resolution of symptoms with no recurrence. This case underscores the need to consider KD in the differential diagnosis of head and neck swellings, particularly in atypical populations, and highlights the importance of thorough pathological evaluation to avoid misdiagnosis.
A 72-year-old male without any comorbidities presented with weight loss and malaise for 3 months. On examination, mild left carotidynia and temporal artery tenderness were present. Investigations revealed mild anemia and leucocytosis, with erythrocyte sedimentation rate and C-reactive protein being persistently elevated. Serum protein electrophoresis showed the presence of M spike and was detected to be IgM Kappa on immunofixation. Fludeoxyglucose (FDG)-positron emission tomography computed tomography showed FDG avid circumferential extensive mural thickening in the aorta and its major branches. Left temporal artery biopsy showed multinucleate giant cells with intramural inflammation and disruption of internal elastic lamina. Bone marrow biopsy showed 5% plasma cells, with flow cytometry showing 88% of the gated CD19-positive cells to be abnormal B cells with chronic lymphocytic leukemia-like immunophenotype. He was diagnosed with giant cell arteritis (GCA) along with chronic lymphoproliferative disorder and started on 1 mg/kg/day prednisolone. There is an association between vasculitis and hematological malignancies; however, it is difficult to establish causation, as both may be merely age-related aberrant immunological phenomena. Concurrent malignancies have been shown to exist in 7.4% of GCA patients, with 45% being hematological. Treatment with B cell-directed therapy can be considered if there is a lack of response to conventional vasculitis therapy, assuming it to be of paraneoplastic origin.
Systemic lupus erythematosus (SLE) is a multisystemic autoimmune disease that can present with pancytopenia. The presence of lupus erythematosus (LE) cells in the bone marrow is a valuable diagnostic feature. We report the case of a 46-year-old male who presented with pancytopenia and underwent a bone marrow aspiration and biopsy. In vitro preparation of LE cells in the cellular reactive marrow revealed characteristic LE cells, confirming an autoimmune etiology for pancytopenia. Further immunological tests led to the diagnosis of SLE. Although the LE cell test yields historically significant findings, it is rarely performed today due to the availability of modern immunological assays. However, the identification of LE cells in the bone marrow can be crucial for diagnosing SLE, particularly in atypical presentations. This case highlights the diagnostic importance of LE cell preparation in cellular reactive bone marrow in patients presenting with pancytopenia. Recognizing this rare yet classic finding can aid in the early diagnosis and management of SLE.
Medium and small arteries are affected by anti-neutrophilic cytoplasmic antibody-associated vasculitis (AAV), a systemic necrotizing inflammatory illness, that commonly causes peripheral neuropathy in the form of mononeuritis multiplex. There are three types of clinical subtypes in AAV, (1) microscopic polyangitis (MPA); (2) granulomatosis with polyangitis; (3) eosinophilic granulomatosis with polyangitis. We are presenting one case of fulminant neuropathy with AAV mimicking Guillain–Barre Syndrome, which is a rare occurrence. Rapid and early differentiation between the two conditions is important. In our case, we could not initiate the treatment due to suspected sepsis, which was later on found to be caused by the acute inflammatory response of systemic vasculitis. Once the diagnosis was clear, it was already late, and we lost the patient. The presence of a systematic inflammatory response, multiple organ dysfunctions, thrombocytosis, and normal procalcitonin can differentiate the two conditions, and emergent plasmapheresis would have been life-saving.
Anti-aminoacyl-tRNA synthetase antibodies are observed in 30% of patients with anti-synthetase syndrome (ASTS), an inflammatory myopathy. We present a case of ASTS in a middle-aged male with an early manifestation of interstitial lung disease. The patient had a history of organizing pneumonia, diagnosed via imaging and lung biopsy. He was prescribed steroids for 10 months and was referred to the rheumatology clinic for evaluation of possible connective tissue disease. Initial workup and clinical presentation suggested a diagnosis of systemic lupus erythematosus. However, during the follow-up, mechanic’s hands, lung fibrosis progression, and the presence of anti-JO-1 and anti-PL-7 antibodies were noted. After systemic immunosuppressant treatment, the patient showed favorable clinical and laboratory responses. ASTS constitutes a diagnostic challenge since the classical clinical manifestations may not present initially and can overlap with other rheumatic diseases. Future studies are needed to accurately diagnose ASTS and to evaluate the efficacy of treatment.
Background/Objectives: Autoimmune rheumatic diseases (AIRDs) are chronic conditions characterized by dysregulated immune responses. Immunosuppressive therapies often used in AIRDs further elevate the risk of infections. This study aims to assess the coverage rate and the potential predictors of influenza, pneumococcal, and herpes zoster (HZ) vaccination among patients with AIRD and the perceived barriers among non-vaccinated AIRD patients in King Fahd Armed Forces Hospital rheumatology clinics, Kingdom of Saudi Arabia. Materials and Methods: A cross-sectional study was performed using a self-administered questionnaire between March 2024 and August 2024 on all accepted patients diagnosed with AIRDs in King Fahd Armed Forces Hospital Rheumatology Clinics in Saudi Arabia. The questionnaire covered the following aspects: socio-demographic data, influenza, pneumococcal, and HZ vaccination history, and patients’ perceived barriers to vaccination. Results: A total of 219 participants, predominantly female (81.3%) and aged over 30 years (89%), were recruited. Results revealed that 58.4% of AIRD patients were vaccinated, with influenza being the most commonly administered vaccine (53.4%), followed by pneumococcal (42.9%) and HZ (24.2%). Vaccination rates were higher among males and those on biological DMARDs (70.7%) and (93.8%), respectively. Key barriers to vaccination among unvaccinated patients included time constraints (62.6%), concerns about vaccine safety (29.7%), not being ordered by a physician (20.9%), and contraindications for a condition (16.5%). Conclusion: This study highlights significant gaps in influenza, pneumococcal, and HZ vaccination coverage among AIRD patients in Saudi Arabia, with potential socio-demographic and clinical factors influencing vaccine uptake. Increased awareness and targeted interventions are needed to improve adherence to vaccination guidelines in this vulnerable population and to target the reported barriers.
Introduction: Rheumatology is a medical speciality that studies the inflammation of musculoskeletal structures and internal organs. Rheumatic diseases are a major cause of disability, often leading to frequent medical consultations and emergency visits. Despite their prevalence, undergraduate teaching of rheumatology is superficial. This impacts future healthcare practitioners’ skills and knowledge of rheumatology. Aim: This study aims to assess the competency and satisfaction of medical students in Saudi Arabia toward teaching and clinical exposure to rheumatology. Subjects and Methods: A cross-sectional study was conducted among medical students at different medical schools in Saudi Arabia. A self-administered questionnaire was distributed to them using an online survey. The questionnaire included questions on sociodemographic characteristics, the status of rheumatology teaching, and the student’s competency and satisfaction with rheumatology teaching and clinical exposure at their medical schools. Results: A total of 439 medical students participated in the survey, of which 62.2% were male and 53.8% were between 23 and 24 years of age. The overall mean competency and satisfaction scores were 6.49 and 6.76, respectively. Results suggested that while more than half (51.3%) had average competency levels, their overall satisfaction with rheumatology teaching was low (32.8%). Increased competency and satisfaction were associated with studying at a governmental college, being in the 6th year level, receiving the teaching of rheumatology from a rheumatologist, and attending rheumatology clinics. Conclusion: Teaching and clinical exposure to rheumatology at medical schools are suboptimal. Greater attention is required to improve medical students’ satisfaction with this unmet educational need.
Background: Recently, it has been demonstrated that chat generative pre-trained transformer (ChatGPT) has successfully completed the United States Medical Licensing Examination and the Saudi Medical License Exam. We conducted an evaluation of ChatGPT (released on February 13, 2023) using a standard clinical toxicological case involving acute organophosphate poisoning. The performance of ChatGPT in addressing all of our inquiries was satisfactory in general but with some limitations. Context: This study is conducted in the context of identifying and illustrating the benefits and drawbacks of using language models and artificial intelligence (AI) in the medical field, especially rheumatology. Aims: We aimed to illustrate the benefits and limitations of applying the AI and language model in the context of medicine and how it could be valuable, especially in the aspects of diagnosis and treatment of rheumatological diseases. Settings and Design: We wrote a typical and usual presentation for two commonly encountered rheumatological diseases, and we asked ChatGPT four major questions regarding the diagnosis and management. Materials and Methods: We input our typical cases to ChatGPT, and we asked four major questions regarding the diagnosis and management, and then we discussed about how ChatGPT approached it and what kind of limitations or drawbacks are encountered. Statistical Analysis Used: Not applicable. Results: Any practitioner in the field is less likely to overlook the typical, straightforward, and uncomplicated clinical case examples we presented. ChatGPT handled all of our inquiries well, and both the initial and regenerated responses were satisfactory and provided coherent explanations of the underlying logic. Nevertheless, the crucial issue in reality is not about obtaining an accurate diagnosis but rather about taking a suitable medical history and being capable of identifying and confirming the correct signs and symptoms. Conclusion: Language models offer various applications and benefits in the field of rheumatology, such as aiding in medical diagnosis and decision-making, facilitating patient communication and education, and enhancing medical education and training.
Background: Nonspecific low back pain (NSLBP) is characterized by low back pain, that is, not associated with any underlying pathology and is accompanied by burning, dull aching, or sharp pain. It is also frequently accompanied by muscle spasms, stiffness, and radiating in the legs. Chiropractic therapy focuses on mechanical problems of the musculoskeletal system, particularly those affecting the spine. This study aims to evaluate the effect of chiropractic on pain and disability in patients with NSLBP. Materials and Methods: In this single group pretest and post-test experimental study, 30 (16 males and 14 females) patients with NSLBP aged 31.23 ± 6.87 years participated. Participants received spinal manipulation in the spinous process of the vertebral segment by using the hypothenar surface or the last phalanx of the second and/or third fingers of the hand for 20 min a day for four consecutive days. Assessments such as the pain disability index (PDI), Oswestry disability index (ODI), and perceived stress scale were performed before and after the intervention. Results: The results showed a significant reduction in PDI ( P < 0.001) and ODI scores ( P < 0.001) in the post-test assessments compared to pretest assessments in patients with NSLBP. None of the subjects reported any adverse effect either during the study period. Conclusion: Chiropractic was safe and effective in reducing the pain and disability in patients with NSLBP. Due to a lack of a control group in our study, a randomized controlled trial with a larger sample size is recommended to validate the results of the study.
Background: Early referral and treatment during the initial inflammatory stages of rheumatoid arthritis (RA) improve patient outcomes and quality of life. However, patients often delay seeking medical advice, leading to diagnostic delays. Limited data is available on diagnostic delays among RA patients in Saudi Arabia (SA). Objectives: This study evaluates the time lag between symptom onset, seeking medical advice, and diagnostic delay in RA patients registered in the Saudi Arthritis Registry (SAR). Methods: A retrospective multicenter study was conducted across five hospitals in Saudi Arabia, involving 668 RA patients aged 16 years and above who met the 2010 American College of Rheumatology/European League Against Rheumatism diagnostic criteria. Patients with other rheumatic diseases were excluded. Data on demographics, family history, symptom onset, healthcare visits, and diagnostic delays were extracted from the SAR. Analysis was performed using IBM SPSS version 28. Results: Among the 668 patients (569 women, 99 men; female-to-male ratio: 5.7:1), the median age was 43 years, and 59% were employed. Educational levels varied, with 20.36% illiterate, 24.9% with primary education, 25.7% high school, 27.1% bachelor’s, and 1.9% with advanced degrees. Delays in seeking medical advice were observed in 53% of patients (>6 months), 24.7% (3–5 months), and 22.3% (<3 months). Before rheumatology referral, 40.87% were seen by one healthcare provider, 35.48% by two, and 23.65% by three or more providers. General practitioners accounted for 27.1% of referrals. The median diagnostic delay was 16.42 weeks. Significant associations were observed between education, gender, and delays. Patients with higher education (Master’s/PhD) showed the highest prevalence of delay (72.6%, p < 0.001). Female patients tended to seek medical advice earlier (1–5 months, 49%) compared to males (3–11 months, 47.5%, p = 0.012). No significant associations were found between age, family history, and delays in seeking medical advice. Conclusion: Delays in seeking medical advice and diagnosis of RA were identified at multiple stages. Female patients sought care earlier than males, while higher educational attainment was paradoxically associated with greater delays. Early referral and timely treatment initiation by rheumatologists are essential to improve RA outcomes in Saudi Arabia.
Scleroderma is “skleros” sclerosing or hardening of the “derma” skin. It includes both systemic and localized scleroderma (LS). Mostly, juvenile LS affects the skin, whereas juvenile systemic sclerosis (SSc) involves multiple organ systems. Localized type is the most common in juvenile populations (>95%), whereas SSc is associated with mortality and severe multiorgan morbidity. Here, we present a rare pediatric case of juvenile SSc exhibiting classical features of skin thickening, autoantibody positivity, and systemic involvement, emphasizing this condition’s rarity and clinical significance. Early recognition and multidisciplinary care are pivotal in improving outcomes, particularly in the pediatric population where systemic involvement can severely impact the quality of life and prognosis.
Idiopathic inflammatory myopathies are a group of clinically heterogeneous autoimmune inflammatory muscular disorders characterized by muscular weakness and multisystem involvement. Antibodies against the small ubiquitin-like modifier activating enzyme (SAE) are one of the rarer phenotypes associated with dermatomyositis. We report a case of a 69-year-old female with a known history of hypertension and dyslipidemia, who had recurrent admissions due to shortness of breath over 6 months and was diagnosed with pericardial effusion of unknown etiology. She later presented to the emergency department with severe shortness of breath and dysphagia. Initially, she was placed on noninvasive ventilation and later required mechanical ventilation. Extensive workup revealed positive SAE-100 antibodies and low-titer anti-JO antibodies suggestive of SAE100 myositis. All imaging studies, including computed tomography neck, chest, abdomen, pelvis, and mammography, were unremarkable. The patient was treated with prednisolone (80 mg daily) and intravenous immunoglobulin (2 g/kg over 5 days). She responded well, was extubated, and continued on prednisolone (1 mg/kg) and azathioprine (100 mg daily) (DOSE OF MEDICINES). The diagnosis was challenging due to the unusual clinical presentation. To the best of our knowledge, this specific manifestation of anti-SAE 100 antibodies associated with myositis has not been previously documented in the literature.
Background: Musculoskeletal and joint affection represents one of the most common manifestations of systemic lupus erythematosus (SLE). Musculoskeletal ultrasound (MSUS) has proven to be a valuable technique in detection of inflammatory and structural damage. The aim is to detect the role of MSUS in revealing subclinical synovitis in SLE patients without any joint manifestations and to correlate the finding with laboratory parameters. Methodology: We conducted this cross-sectional study on 75 persons: 50 SLE patients and 25 healthy subjects. MSUS with power Doppler of hand and wrist joints (22 joints for each patient and total joints examined for all patients 1650 joints) was done for all subjects. Results: Our study detected synovitis in 33 (44%) subjects, 6 of them (8%) have inactive SLE), 9 (12%) have mild active SLE, 5 (6.6%) have moderate active SLE and 13 (17.3%) are healthy control and as regard number of joints affected synovitis detected in 69 joints (4.18% of all joints examined), 6 (0.36%) joints were in inactive SLE group, 20 (1.2%) joints in mild active SLE group, 15 (0.9%) joints in moderate active SLE group and 28 (1.69%) joints in control group. SLE patients were statistically had more significant synovitis and the number of joints affected were more than normal control, also moderately active lupus patients had more significant synovitis and more affected joints than mildly active and inactively diseased persons. Synovitis correlated positively with erythrocyte sedimentation rate and anti-dsDNA and negatively with C4. Conclusion: MSUS is very helpful in detecting subclinical synovitis in lupus patients without joint manifestation, especially if inflammation markers are elevated.
