Adult-onset Still’s disease with secondary hemophagocytic lymphohistiocytosis: a case report

Hemophagocytic lymphohistiocytosis (HLH) is an aggressive and life-threatening syndrome of excessive immune activation causing multi-organ dysfunction. HLH can be inherited genetically, but can also be secondary to infections, malignancy, immunosuppression, and autoimmune conditions. Adult-onset Still’s disease (AOSD) is an autoimmune disorder characterized by fevers, arthritis, and an evanescent rash. It can rarely predispose patients to HLH. Herein, we report a case of a 20-year-old male patient who presented with fever, joint pain, and rash for 1 month. On evaluation, he was diagnosed as a case of AOSD complicated with secondary HLH. A 23-year-old male, with no significant past medical history and family history, presented to our emergency department with complaints of fever with rash for the last 1 month. He had intermittent high-grade fever with chills, which was associated with evanescent rash involving the trunk and proximal upper limbs. There was no history of joint pain, cough, sore throat, burning micturition, or weight loss. On examination, the patient was conscious and oriented with a temperature of 101 °F, pulse rate of 100/min, blood pressure of 120/84 mmHg, and SpO2 of 98% on room air. Physical examination revealed salmon-colored maculopapular rash, cervical lymphadenopathy, and mild splenomegaly. The rest of the physical examination was unremarkable. Lab investigations revealed pancytopenia, transaminitis, elevated CRP with low ESR, highly elevated ferritin, elevated LDH, hypofibrinogenemia, and sterile blood and urine cultures. ANA by ELISA, rheumatoid factor, IGRA, dengue IgM, rapid malaria Ag, typhoid IgM, Leptospira IgM and scrub IgM were reported negative. The patient met the diagnostic criteria for AOSD and HLH, and a diagnosis of HLH secondary to AOSD was made. He was given pulse iv methylprednisolone for 5 days, His general condition improved over the week. Then he was switched to oral prednisolone 60 mg once daily. There were no more episodes of fever, and he was discharged after one week on a tapering dose of steroids. AOSD is a rare autoinflammatory condition which often presents as a diagnostic challenge. A high index of suspicion is important for the diagnosis of HLH, and prompt initiation of treatment is of utmost importance, as it is a rapidly progressive life-threatening condition.

Tocilizumab for refractory adult-onset still’s disease: Report of three cases

OBJECTIVES@#To present three cases of adult-onset still’s disease (AOSD) who was initially refractory to corticosteroid therapy but were successfully treated with an interleukin-6 (IL-6) inhibitor, tocilizumab (TCZ). @*BACKGROUND@# Adult-onset Still’s Disease (AOSD) is a systemic inflammatory disorder of unknown etiology characterized by quotidian fever, evanescent rash, and arthritis/arthralgia. The pro-inflammatory cytokine interleukin (IL) – 6 has been implicated in its pathogenesis. @*CASE PRESENTATION@#Three patients (40F, 37F, and 27M) presented with quotidian fever, evanescent maculopapular rash, arthritis, anemia, leukocytosis, elevated acute phase reactants and hyperferritinemia of 3 to 4 months duration. All were diagnosed AOSD by Yamaguchi criteria after extensive work up to exclude other diagnostic possibilities. Each patient received high dose corticosteroids and 2 patients also received methotrexate (MTX) with initial improvement of symptoms. However, there was recurrence and exacerbation of clinical symptoms on tapering of steroid doses. Each patient was then given TCZ at 8 mg/kg. Within a month of the initial dose of TCZ, there was dramatic clinical and laboratory improvement, enabling rapid steroid dose tapering. @*CONCLUSION@#This series substantiates the role of IL-6 in the pathomechanisms of AOSD and demonstrates use of TCZ in the management of AOSD refractory to corticosteroids.

Multiple Gastric Ulcers as a Manifestation of Cytomegalovirus Infection in a Patient with Adult-onset Still's Disease

Cytomegalovirus (CMV) is a relatively common viral pathogen, and CMV infection is generally assumed asymptomatic in general hosts. In immunologically compromised patients, CMV infection can cause further serious diseases such as pneumonitis, retinitis, encephalitis, and enterocolitis. A 40-year-old man is being presented with acute fever, myalgia, and sore throat. Laboratory findings have revealed elevated ESR, CRP, and ferritin levels. The patient was being treated for adult-onset Still's disease (AOSD). Three weeks later, although AOSD activity was under control, the patient began to complain about oral soreness, epigastric pain, and diarrhea. Endoscopy revealed multiple round ulcers with white patches in the esophagus and the stomach, sparing the colon. Anti-fungal agent is being administered but failed to bring improvements after 2 weeks of therapy. CMV infection is confirmed with pathology, antiviral agents were initiated after the ulcers subsided. Currently, clinical associations between CMV infection and AOSD are suggested. CMV infection may be considered as a differential diagnosis when multiple upper gastrointestinal ulcerative lesions develop within patients whom have been treated AOSD with immunosuppressive agents.

A Case of Adult Onset Still's Disease / 대한피부과학회지

No abstract available.

Two Cases of Refractory Adult-Onset Still's Disease Responding to Anakinra / 대한내과학회지

Adult-onset Still's disease (AOSD) is a systemic inflammatory disorder with variable clinical features. The interleukin (IL)-1 receptor antagonist anakinra has been proposed as an alternative effective treatment in refractory AOSD. We report, for the first time in Korea, two cases of refractory AOSD in which anakinra treatment produced a clinical response. The first patient had frequent clinical flare-ups with fever, sore throat, myalgia, and pleuritic chest pain despite treatment with methotrexate and etanercept. In the second patient, treatments with various immunosuppressive agents failed to control the disease activity. Treatment with anakinra 100 mg/day was initiated in both cases. A complete clinical remission and improvement in the laboratory parameters were observed. The steroid dose was tapered without further clinical flare-ups. Anakinra appears to be an effective alternative treatment modality in patients with AOSD refractory to conventional disease-modifying anti-rheumatic drugs and corticosteroid therapy.

Two Cases of Refractory Adult-Onset Still's Disease Responding to Anakinra / 대한내과학회지

Adult-onset Still's disease (AOSD) is a systemic inflammatory disorder with variable clinical features. The interleukin (IL)-1 receptor antagonist anakinra has been proposed as an alternative effective treatment in refractory AOSD. We report, for the first time in Korea, two cases of refractory AOSD in which anakinra treatment produced a clinical response. The first patient had frequent clinical flare-ups with fever, sore throat, myalgia, and pleuritic chest pain despite treatment with methotrexate and etanercept. In the second patient, treatments with various immunosuppressive agents failed to control the disease activity. Treatment with anakinra 100 mg/day was initiated in both cases. A complete clinical remission and improvement in the laboratory parameters were observed. The steroid dose was tapered without further clinical flare-ups. Anakinra appears to be an effective alternative treatment modality in patients with AOSD refractory to conventional disease-modifying anti-rheumatic drugs and corticosteroid therapy.

Kikuchi-Fujimoto's Disease with Adult Onset Still's Disease / 대한류마티스학회지

Kikuchi-Fujimoto's disease (KFD), or histiocytic necrotizing lymphadenitis, is a rare benign and self-limiting disease. KFD are confused with systemic autoimmune disease as they present with localized lymphadenopathy, fever, fatigue, arthritis, leukopenia. Furthermore as KFD can occur associated with other autoimmune disease, we need to diagnose carefully. Here, we describe a case of 27-year-old female patient, diagnosed as KFD, who subsequently developed adult onset Still's disesase (AOSD). As far as we know, this is the first case of KFD with AOSD in Korea.

A Case of Pulmonary Hypertension in a Patient with Adult-onset Still's Disease / 대한류마티스학회지

Pulmonary hypertension is one of the serious complications of autoimmune rheumatic disease, and it is becoming an important cause of morbidity and premature death. Pulmonary involvement occurs occasionally in adult-onset Still's disease (AOSD), but pulmonary hypertension has not been previously reported in Korea. We describe a 33-year-old woman with 5-year history of AOSD who presented with pulmonary hypertension, without evidences of pleural or parenchymal involvement of the lung, pulmonary embolism or any other obvious cause. Here, we report an AOSD patient with pulmonary hypertension with review of the literatures.

Two Cases of Adult Onset Still's Disease with Concomitant Hemophagocytic Syndrome / 대한류마티스학회지

Adult onset Still's disease is an rare inflammatory disease with the characteristic of fever, skin rash, arthralgia or arthritis, lymphadenopathy, leukocytosis and multiple systemic organ involvement. Its accurate pathogenesis has not been elucidated yet. Its clinical manifestation is also very diverse, from relatively mild symptoms to severe complications such as concomitant infection, liver failure, disseminated intravascular coagulation, myocarditis, adult respiratory distress syndrome, which may lead to death in some cases. Particularly, concomitant hemophagocytic syndrome is rare complication that could induce a fatal outcome. Thus it is important to diagnose early and start treatments. Until now, it has been reported in only one case of adult onset Still's disease in Korea. Here, we report two female cases of adult onset Still's disease with concomitant hemophagocytic syndrome.

Adult Onset Still's Disease

Adult onset Still's disease (AOSD) is an uncommon acute systemic inflammatory disease of unknown origin. The clinical features include high spiking fever, arthralgia or arthritis, transient maculopapular rash, lymphadenopathy, hepatosplenomegaly, and serositis. The laboratory findings include leukocytosis(neutrophilia), elevation of AST, ALT, ESR, CRP and serum ferritin, and negative rheumatic factor and anti-nuclear antibody. We report a case of a 52-year old woman whom symptom is subsided after steroid use.

A Case of Adult-Onset Still's Disease Presented with Urticaria / 대한피부과학회지

Adult-onset Still's diseas e(AOSD) is a rare, systemic inflammatory disease of unknown etiology, characterized by spiking fever, skin rash, arthralgia or arthritis, lymphadenopathy, hepatosplenomegaly, sore throat and serositis. The typical skin rash in AOSD is an evanescent, erythematous maculopapular lesion, often associated with spiking fever. However, other atypical skin lesions such as urticaria are rarely seen. Here, we report a case of a 24-year-old female patient in whom an urticaria-like rash was an uncommon clinical feature of AOSD.

A Case of Adult-onset Still's Disease associated with Congestive Heart Failure / 대한류마티스학회지

Adult onset Still's disease (AOSD) is a multi-systemic inflammatory disorder characterized by several distinguished manifestations including high spiking fever, evanescent salmon-colored skin rash, arthralgia/arthritis, hepato-splenomegaly, lymphadenopathy, sore throat, serositis, and leukocytosis. The frequently noticed cardiopulmonary manifestation is pleuritis, pneumonitis, and pericarditis. Diffuse myocardial dysfunction is uncommon in AOSD, but it may be the cause of life-threatening heart failure. We have experienced a case of AOSD with acute heart failure in 20-year-old female complained of high fever and skin rash. On echocardiogram, the wall motion of left ventricle was globally decreased with a marked diminished ejection fraction (<25%). Two weeks after treatment with high dose steroid and intravenous immunoglobulin, her symptoms and cardiac function on echocardiogram was completely resolved. To our knowledge, this is the first case of AOSD with acute heart failure reported in Korea.

Refractory Cases of Adult Onset Still's Disease Successfully Treated with TNF-alpha Blocker / 대한류마티스학회지

Adult onset Still's disease (AOSD) is a systemic inflammatory disorder of unknown etiology characterized by spiking fever, evanescent salmon-colored rash, polyarthritis and leukocytosis. The diagnosis of AOSD remains a challenge to clinicians and requires a high index of suspicion because of its rarity and nonspecific symptoms. Although the etiology and pathogenesis of AOSD is not elucidated clearly, the pathogenetic role of inflammatory cytokines, such as interleukin (IL)-6, IL-8, IL-18 and tumor necrosis factor (TNF)-alpha were suggested and the correlations of their levels with disease activity were also reported. These results raise a possibility that the blocking of these cytokines may provide a therapeutic benefit in controlling disease activity and relieving the symptoms of AOSD. Recently, we experienced two cases of AOSD, who were refractory to the treatment with high dose glucocorticoid and immunosuppressive agents. Both were treated with TNF- blockers and experienced remissions thereafter. These experiences might support the use of biologic agents in refractory AOSD.