Not easy-peasy to diagnose: familial Mediterranean fever unaccompanied by fever.

Classical attacks of familial Mediterranean fever (FMF) are often accompanied by fever, but some of the patients have attacks without fever. This study aimed to compare the characteristics of FMF patients with and without fever during their attacks and draw attention to the different clinical presentations of FMF in children. Medical files of patients aged 0-18 years who were followed up with the diagnosis of FMF in two reference pediatric rheumatology centers were reviewed retrospectively. The patients were divided into two groups: children who had had no fever in any of their attacks were assigned as group 1, and those who had fever during their attacks were classified as group 2. Out of 2003 patients evaluated, 191 (9.53%) patients had attacks not accompanied by fever and their median age at onset of symptoms (7.0 vs. 4.0 years, p < 0.001) and the median age at diagnosis (8.6 vs. 6.0 years, p < 0.001) were significantly higher; however, group 2 had a delay in diagnosis. The annual number of attacks and abdominal attacks were more common in group 2; arthritis, arthralgia, erysipelas-like rash, exercise-induced leg pain, and myalgia were more common in group 1.    Conclusion: The data from the assessment of children with FMF attacks not accompanied with fever were presented for the first time. Children with late age onset of FMF and dominance of musculoskeletal features may display attacks not accompanied with fever. What is Known: • Familial Mediterranean fever (FMF) is the most common inherited auto-inflammatory disease, characterized by recurrent attacks of fever, serositis, and musculoskeletal symptoms. • Although fever is the most common symptom, few studies have reported attacks without fever. What is New: • The aim of this study was to identify patients with FMF but without fever during attacks and to demonstrate their distinctive presentations. • We found that 7% of our patients had afebrile attacks with predominant musculoskeletal symptoms and were diagnosed earlier than patients with febrile attacks, probably due to early referral to pediatric rheumatology clinics.

[Assessments and outcome parameters for axial spondylarthritis in clinical studies and routine practice]. / Assessments und Outcome-Parameter bei axialer Spondyloarthritis in klinischen Studien und in der täglichen Praxis.

A standardized documentation of the clinical manifestation and patient-reported outcome (PRO) of patients with axial spondylarthritis (axSpA) is necessary in order to assess the disease with respect to disease activity and severity and to achieve the foundations for clinical decisions. The standardized documentation refers to domains such as disease activity, quality of life, functional capacity and ability to work but also to individual aspects, such as pain, arthritis and enthesitis. The domains as well as the individual aspects are mainly collected directly from PROs using a self-report questionnaire. An exception is the clinical examination of the inflammatory involvement of joints, entheses and the physical examination of spinal mobility. In interventional studies, status or response criteria are used to quantify changes. The lack of objective clinical criteria for documentation of inflammatory activity poses a particular challenge in axSpA, therefore, the PROs need to be interpreted critically taking objective disease parameters into consideration. Most instruments were developed in the 1990s in Bath, UK and in the last 15 years by the Assessments in Axial Spondylarthritis International Society (ASAS) for use in studies.

Hansen's disease masquerading as rheumatoid arthritis: A case report.

Hansen's disease, a chronic granulomatous disease, classically has cutaneous and neurological manifestations. Musculoskeletal manifestation of the disease is underappreciated. This case report conveys that musculoskeletal manifestation of the disease should not be missed, as sometimes it is the only presenting symptom, to avoid delay in correct diagnosis and treatment.

Pediatric Leukemia From an Orthopedic Perspective: A Case of Acute Lymphoblastic Leukemia Initially Managed as Septic Hip With Osteomyelitis.

Acute lymphoblastic leukemia (ALL) represents the most common pediatric cancer accounting for about one-third of all malignancies in childhood. The differential diagnosis for a pediatric patient manifesting with joint pain and refusal to bear weight is wide and includes trauma, transient synovitis, septic arthritis, rheumatologic disorders, and malignancy. Overt complaints from the musculoskeletal system as the initial manifestation of ALL may present in up to 30% of cases with normal laboratory tests and without hepatosplenomegaly or lymphadenopathy, perplexing the establishment of a definite diagnosis. Herein, we report the case of a three-year-old male who presented with recurrent hip pain and fever masquerading as septic arthritis recalcitrant to intravenous (IV) antibiotics, irrigation, and debridement of the hip joint with a final diagnosis of acute lymphoblastic leukemia confirmed by bone marrow biopsy.

Aggressive Presentation and Rapid Progression of Osteonecrosis of the Femoral Head After COVID-19.

Background: We aim to report the consecutive patients diagnosed with osteonecrosis of femoral head (ONFH) following recovery from COVID-19 disease and elucidate the unique features of ONFH associated with COVID-19. Methods: Consecutive 22 patients (39 hips) recovered from COVID-19 and presented with ONFH from November 2020 to October 2021 were included. All the patients received corticosteroids as a supportive treatment during COVID-19. Patients were classified into two types based on the type of presentation, namely classic ONFH and rapidly destructive coxarthrosis (RDC) depending on radiographs, MRI, inflammatory markers and hip aspiration findings. Harris hip score was used to evaluate the functional outcome before and after treatment. Results: The mean time to diagnose of ONFH from the onset of hip symptoms was 39.3 days (range 10-90 days). The average duration of onset of hip symptoms after COVID 19 infection was 7.5 months (range 3 - 11 months). The average cumulative dose of methylprednisolone equivalent was 811 mg (range 200-2100 mg) and the average duration of steroid intake was 2.8 weeks. There was significant elevation in the inflammatory markers in RDC group compared to classic ONFH (p < 0.05). The Harris hip score improved from 63.6 ± 23.2 at presentation to 82.6 ± 9.6 after treatment (p < 0.05). Three patients had features of RDC. Among the three patients with RDC, two patients had rapid progression of ONFH and underwent total hip arthroplasty (THA). The third patient is awaiting a THA. Conclusion: ONFH after COVID-19 can have a varied presentation. While the most common presentation is like classical ONFH, some patients can have an acute and aggressive presentation with rapid destruction. They have features like elevated serological markers and extensive periarticular bone and soft tissue edema. A low cumulative dose of steroids in our patients suggests that the COVID-19-associated vasculitis may play a role in the pathogenesis of ONFH.

Clinical management of the most common extra-intestinal manifestations in patients with inflammatory bowel disease focused on the joints, skin and eyes.

Extra-intestinal manifestations (EIMs) of inflammatory bowel disease (IBD) occur frequently and contribute to morbidity and reduced quality of life. The musculoskeletal, ocular and cutaneous organ systems are frequently involved in IBD-related EIMs. By focusing on manifestations involving the joints, skin and eyes, this review will discuss the most common clinically relevant and burdensome EIMs that affect IBD patients, and strives for early recognition, adequate treatment and timely referral. For this purpose, we aimed to create a comprehensive overview on this topic, with the main focus on the treatment of reactive and associated EIMs, including spondyloarthropathies, pyoderma gangrenosum, erythema nodosum, psoriasis and anterior uveitis. The recently developed biologicals enable simultaneous treatment of inflammatory disorders. This review can be used as a helpful guide in daily clinical practice for physicians who are involved in the treatment of IBD patients.

Isolated pulmonary valve endocarditis: truth or myth?

Pulmonary valve (PV) infective endocarditis (IE) is an extremely rare disease that involves normal as well as abnormal valves. This condition mostly occurs in patients with underlying predisposing factors. It could be missed if patients do not present with typical features of right-sided endocarditis or in the absence of classic risk factors. The case presented here did not have any known risk factors for IE until surgery and presented mainly with fever, weight loss, and musculoskeletal symptoms.

A Case of Relapsing Polyarthritis Associated With Hidradenitis Suppurativa: Case Report and Review of Literature.

Hidradenitis suppurativa (HS) is a chronic, inflammatory follicular skin disease with recurrent skin nodules, sinus tracts, and scarring. We observed a case of HS associated with relapsing polyarthritis. On presentation the patient had a flare of polyarthritis with an increase in the number and size of pustular nodules. He has had similar episodes 1 to 2 times yearly subsiding with antibiotic treatment. Radiographs revealed erosions and demineralization. Symptoms improved following institution of anti-inflammatory and antibiotic therapy. HS is associated with several inflammatory conditions, and dysregulation in innate immunity may play an important role in etiopathogenesis. Spondyloarthritis/sacroiliitis is the most common joint manifestation in HS and mechanism(s) underlying arthropathy is unknown. Treatment of arthritis in HS is anecdotal.

Manifestações musculoesqueléticas no hiperparatireoidismo primário / Musculoskeletal manifestations in primary hyperparathyroidism

OBJETIVO: Avaliar as manifestações musculoesqueléticas do hiperparatireoidismo primário (HPP). PACIENTES E MÉTODOS: Foram avaliados dados clínicos, com ênfase nas manifestações musculoesqueléticas, dados laboratoriais e densitométricos de 21 pacientes com HPP acompanhados no nosso Serviço. RESULTADOS: Foram estudadas apenas mulheres no período menopausa, com média de idade de 67,9 ± 11,2 anos, sendo 16 (76,2 por cento) de cor branca. Os níveis séricos do cálcio total, fósforo, 25 hidroxivitamina D e paratormônio (PTH), no diagnóstico, foram respectivamente de 10,6 ± 0,9 mg/dL, 2,9 ± 0,7 mg/dL, 16,6 ± 6,6 ng/mL e 113,7 ± 74,8 pg/mL. Treze (61,9 por cento) pacientes apresentavam osteoatrite, sete (33,3 por cento) artralgias difusas, seis (28,6 por cento) mialgias difusas, três (14,3 por cento) condrocalcinose e duas (14,3 por cento) tendinopatias. Das 14 (67,8 por cento) com osteoporose, metade apresentava história clínica de fratura óssea (duas de rádio distal, quatro de coluna vertebral, duas de quirodáctilos, duas de tornozelos). Com relação às comorbidades, foi observada hipertensão arterial sistêmica em 11 (52,4 por cento) casos, cinco (23,8 por cento) hipotireoidismo, quatro (18,0 por cento) úlcera péptica, três (14,3 por cento) litíase renal, duas (9,5 por cento) depressão e duas (9,5 por cento) psoríase. Quinze pacientes (71,4 por cento) foram submetidas à paratiroidectomia, sendo sete com diagnóstico de adenoma de paratireoide, e 61,5 por cento destas pacientes evidenciaram melhora dos sintomas após a cirurgia. CONCLUSÕES: O HPP apresenta uma expressão clínica variável na qual predominam as manifestações musculoesqueléticas. O conhecimento dessa enfermidade e a sua inclusão no diagnóstico diferencial das doenças reumatológicas possibilitam seu diagnóstico precoce, minimizando suas complicações clínicas.

OBJECTIVE: To evaluate the musculoskeletal manifestations of primary hyperparathyroidism (PHP). PATIENTS AND METHODS: Clinical, with emphasis on musculoskeletal manifestations, laboratorial, and densitometric data of 21 PHP patients followed-up in our service were evaluated. RESULTS: Only post-menopausal patients, with mean age of 67.9 ± 11.2 years, of which 16 (76.2 percent) were Caucasian, participated in this study. Serum levels of calcium, phosphorus, 25 hydroxy vitamin D, and parathyroid hormone (PTH) at the time of diagnosis were 10.6 ± 0.9 mg/dL, 2.9 ± 0.7 mg/dL, 16.6 ± 6.6 ng/mL, and 113.7 ± 74.8 pg/mL, respectively. Thirteen (61.9 percent) patients had osteoarthritis, 7 (33.3 percent) diffuse arthralgia, 6 (28.6 percent) diffuse myalgia, 3 (14.3 percent) chondrocalcinosis, and 2 (14.3 percent) tendinopathy. Half of 14 (67.8 percent) patients with osteoporosis had a history of bone fracture (2 of the distal radius, 4 of the vertebral spine, 2 of the fingers, and 2 of the ankles). Eleven (52.4 percent) patients had hypertension, 5 (23.8 percent) hypothyroidism, 4 (18.0 percent) peptic ulcer, 3 (14.3 percent) kidney stones, 2 (9.5 percent) depression, and 2 (9.5 percent) psoriasis. Fifteen patients (71.4 percent) underwent parathyroidectomy, seven had a diagnosis of adenoma of the parathyroid, and an improvement of the symptoms was observed in 61.5 percent of those patients. CONCLUSIONS: Primary hyperparathyroidism has variable clinical manifestations in which musculoskeletal symptoms predominate. Knowledge of this disorder and its inclusion in the differential diagnosis of rheumatic diseases allows the early diagnosis, therefore minimizing clinical complications.