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Arthritis and Rheumatism May 2008The Gullah population of the Sea Islands of South Carolina is a unique group of African Americans who, due to geographic and cultural factors, remained isolated with...
OBJECTIVE
The Gullah population of the Sea Islands of South Carolina is a unique group of African Americans who, due to geographic and cultural factors, remained isolated with minimal genetic admixture until the 1950s. Because of the unique homogeneous nature of the Gullah, we sought to define the genetic and environmental factors contributing to systemic lupus erythematosus (SLE) in this population.
METHODS
Using data from our ongoing cohort study of lupus in the Gullah population, which we established in 2003, disease characteristics and serologic profiles were summarized for 184 patients with SLE, 144 unaffected first-degree relatives, and 144 matched unrelated, unaffected control subjects. These findings were compared with those in 2 other large cohorts of African Americans with SLE.
RESULTS
In the Gullah cohort, we observed a high prevalence of SLE multiplex families (26.6%), malar rash (56.0%), discoid rash (34.2%), photosensitivity (60.9%), and oral/nasal ulcerations (43.5%), but a lower prevalence of hematologic and pleuropericardial disease than has been reported in other African American cohorts. Overall renal and central nervous system involvement, number of American College of Rheumatology disease criteria met, and SLE Damage Index scores were similar to those reported in other cohorts. Of interest, male and female first-degree relatives and male and female control subjects in this cohort had similar rates of antinuclear antibody positivity, whereas lupus-specific antibodies were more prevalent in the women than in the men.
CONCLUSION
These data indicate that the severity of lupus in the Gullah population is similar to that in other African American populations, whereas skin disease and familial disease prevalence are increased in the Gullah. These findings suggest that there is an increased genetic influence on overall disease in this cohort compared with that in other African American cohorts, which confirms the unique nature of this cohort.
Topics: Adult; Black or African American; Autoantibodies; Female; Humans; Lupus Erythematosus, Systemic; Male; Middle Aged; South Carolina
PubMed: 18438839
DOI: 10.1002/art.23416 -
Journal of Clinical Medicine Research Nov 2018Juvenile dermatomyositis (JDM) is a rare, but well recognized multi-systemic inflammatory myopathy in children defined by proximal muscle weakness and distinctive skin...
Juvenile dermatomyositis (JDM) is a rare, but well recognized multi-systemic inflammatory myopathy in children defined by proximal muscle weakness and distinctive skin lesions, that if recognized and treated early result in decreased morbidity and mortality. The 1975 criteria established by Bohan and Peter center around the propensity for early development of heliotrope and Gottron's lesions in combination with specific laboratory abnormalities, and are still the leading diagnostic tool. The following case demonstrates a toddler with an atypical presentation of JDM in which delayed dermatologic manifestations hindered initial diagnosis. A previously healthy 2 years and 11 months old female presented to the emergency department with a 7-month history of bilateral knee pain and progressive muscular weakness. Initial evaluation yielded a diagnosis of idiopathic rhabdomyolysis but progressive deterioration prompted additional workup. During her course of care, the patient required admission at numerous facilities for specialty procedures including swallow studies, electromyography, Nissen fundoplication with G-tube insertion, and eventual muscle biopsy, resulting in pathology clinching the diagnosis. Post-diagnosis the development of a heliotrope and malar rash ensued, 11 months after commencement of original presentation. As the Bohan and Peter criteria of 1975 can help to aid in diagnosis of JDM for textbook presentations, atypical cases such as ours suggest that revision to current diagnostic criteria needs to be established. Also, with many pediatric rheumatologists opting for less invasive methods than muscle biopsy to aid in diagnosis, in combination with the heterogeneous nature of currently tracked serous markers, the risk for delayed or missed diagnosis is amplified. As prior research has demonstrated, early diagnosis leads to better outcomes for children battling JDM. Therefore, it is vital that criteria be revised and additional research be conducted for more sensitive and specific markers to help aid in early diagnosis of JDM.
PubMed: 30344821
DOI: 10.14740/jocmr3547w -
Annals of the Rheumatic Diseases Oct 2011Systemic lupus erythematosus is a clinically heterogeneous autoimmune disease. A number of genetic loci that increase lupus susceptibility have been established. This...
OBJECTIVE
Systemic lupus erythematosus is a clinically heterogeneous autoimmune disease. A number of genetic loci that increase lupus susceptibility have been established. This study examines if these genetic loci also contribute to the clinical heterogeneity in lupus.
MATERIALS AND METHODS
4001 European-derived, 1547 Hispanic, 1590 African-American and 1191 Asian lupus patients were genotyped for 16 confirmed lupus susceptibility loci. Ancestry informative markers were genotyped to calculate and adjust for admixture. The association between the risk allele in each locus was determined and compared in patients with and without the various clinical manifestations included in the ACR criteria.
RESULTS
Renal disorder was significantly correlated with the lupus risk allele in ITGAM (p=5.0 × 10(-6), OR 1.25, 95% CI 1.12 to 1.35) and in TNFSF4 (p=0.0013, OR 1.14, 95% CI 1.07 to 1.25). Other significant findings include the association between risk alleles in FCGR2A and malar rash (p=0.0031, OR 1.11, 95% CI 1.17 to 1.33), ITGAM and discoid rash (p=0.0020, OR 1.20, 95% CI 1.06 to 1.33), STAT4 and protection from oral ulcers (p=0.0027, OR 0.89, 95% CI 0.83 to 0.96) and IL21 and haematological disorder (p=0.0027, OR 1.13, 95% CI 1.04 to 1.22). All these associations are significant with a false discovery rate of <0.05 and pass the significance threshold using Bonferroni correction for multiple testing.
CONCLUSION
Signifi cant associations were found between clinical manifestations and the FCGR2A, ITGAM, STAT4, TNSF4 and IL21 genes. The findings suggest that genetic profiling might be a useful tool to predict disease manifestations in lupus patients in the future.
Topics: Adult; Black or African American; Asian People; Female; Genetic Loci; Genetic Predisposition to Disease; Genotype; Humans; Lupus Erythematosus, Discoid; Lupus Erythematosus, Systemic; Lupus Nephritis; Male; Middle Aged; Oral Ulcer; Phenotype; Polymorphism, Single Nucleotide; White People; Young Adult
PubMed: 21719445
DOI: 10.1136/ard.2011.154104 -
BMC Pediatrics Nov 2013Systemic lupus erythematosus (SLE) is known to present with a wide variety of clinical manifestations. Lymphadenopathy is frequently observed in children with SLE and...
BACKGROUND
Systemic lupus erythematosus (SLE) is known to present with a wide variety of clinical manifestations. Lymphadenopathy is frequently observed in children with SLE and may occasionally be the presenting feature. SLE presenting with granulomatous changes in lymph node biopsy is rare. These features may also cause diagnostic confusion with other causes of granulomatous lymphadenopathy.
CASE PRESENTATION
We report 12 year-old female who presented with generalized lymphadenopathy associated with intermittent fever as well as weight loss for three years. She also had developed anasarca two years prior to presentation. On presentation, she had growth failure and delayed puberty. Lymph node biopsy revealed granulomatous features. She developed a malar rash, arthritis and positive ANA antibodies over the course of next two months and showed WHO class II lupus nephritis on renal biopsy, which confirmed the final diagnosis of SLE. She was started on oral prednisolone and hydroxychloroquine with which her clinical condition improved, and she is currently much better under regular follow up.
CONCLUSION
Generalized lymphadenopathy may be the presenting feature of SLE and it may preceed the other symptoms of SLE by many years as illustrated by this patient. Granulomatous changes may rarely be seen in lupus lymphadenitis. Although uncommon, in children who present with generalized lymphadenopathy along with prolonged fever and constitutional symptoms, non-infectious causes like SLE should also be considered as a diagnostic possibility.
Topics: Antibodies, Antinuclear; Child; Connective Tissue Diseases; Diagnosis, Differential; Disease Progression; Edema; Female; Fever; Granuloma; Humans; Hydroxychloroquine; Infections; Kidney; Lupus Erythematosus, Systemic; Lupus Nephritis; Lymph Nodes; Lymphatic Diseases; Neoplasms; Prednisolone; Puberty, Delayed
PubMed: 24192007
DOI: 10.1186/1471-2431-13-179 -
F1000Research 2022Digital gangrene is a rare but serious complication of systemic lupus erythematosus (SLE). It occurs usually in middle-aged patients with longer disease duration....
Digital gangrene is a rare but serious complication of systemic lupus erythematosus (SLE). It occurs usually in middle-aged patients with longer disease duration. Herein we report the case of a 56-year-old man (with no history suggestive of Raynaud's phenomenon, diabetes mellitus, smoking, trauma, infection, or chemical exposure), who presented with SLE and digital gangrene was among the first signs. He presented with a one-month history of joint pain, hair loss, photosensitivity, mouth ulcers, malar rash, dyspnea, and digital pain. Physical examination revealed painful and diffuse erythematous skin lesions in the extremities and back, as well as cyanosis in the fingers. We noted lymphocytopenia (600 cells/mm ), and an elevated C-reactive protein (15.1 mg/l) on laboratory tests. Immunological tests were positive for antinuclear antibodies (ANA) with Title 1:400. Pulmonary computed tomography revealed pulmonary fibrosis, and pulmonary function tests revealed the restrictive pulmonary disease. Diagnosis of SLE with lung involvement was retained. The immunological assessment in search of elements in favor of a vascular origin of the patient's skin lesions was negative. Treatment was initiated with 200 mg/day hydroxychloroquine. For dermal and pulmonary involvement, intravenous (IV) pulse therapy was used with methylprednisolone (1,000 mg/d for three consecutive days monthly) and cyclophosphamide (1 g/month). Calcium blocking agents were also prescribed. However, the lesions did not improve. The patient was given two infusions of rituximab (1 g) at a 14-day interval with a marked improvement ofthe majority of vasculitis lesions, and a partial improvement of dyspnea. Digital gangrene is a rare complication of late-onset SLE, especially as a primary manifestation.
PubMed: 38813136
DOI: 10.12688/f1000research.124225.2 -
Beijing Da Xue Xue Bao. Yi Xue Ban =... Dec 2018To describe the clinical, immunological characteristics and organ involvement of patients with systemic lupus erythematosus (SLE) in Tibet plateau, China.
OBJECTIVE
To describe the clinical, immunological characteristics and organ involvement of patients with systemic lupus erythematosus (SLE) in Tibet plateau, China.
METHODS
We retrospectively investigated 70 patients admitted in the Tibet Autonomous Region People's Hospital between May 2014 and April 2016. In the study, 120 hospitalized patients with SLE from the Department of Rheumatology and Immunology of the Peking University People's Hospital were randomly selected as the control (plain) group. The major organ involvement, clinical and immunological characteristics were compared between the two groups.
RESULTS
The female to male ratio of Tibet plateau group was 10.7, while the corresponding ratio of plain group was 11.0. The mean age at disease diagnosis was (32.21±11.40) and (35.38±13.25) years, respectively. the most common initial manifestations of SLE were arthritis (78.6%), alopecia (55.7%) and malar rash (48.6%) in Tibet plateau group, the prevalence of arthritis and alopecia was significantly higher than in plain group (P<0.05). The incidence of neuropsychiatric and kidney involvement was significantly lower in Tibet plateau group compared with plain group (P<0.05). As for the serological manifestations, the positivity of anti-double-stranded DNA (dsDNA) (57.1%), anti-Smith (Sm) antibody (55.7%), anti-Sjögren syndrome A (SSA) antibody (72.3%), anti-Sjögren syndrome B (SSB) antibody (41.4%) and anti-u1-ribosenuclear protein (u1RNP) antibody (45.7%) was significantly higher in Tibet plateau group (P<0.05). While the incidence of low serum complement C3 (61.4%), C4 (38.6%) less frequent in Tibet plateau group. Mean SLE disease activity index (SLEDAI) score was similar in the Tibet plateau group (12.18±5.58) and plain group (12.69±7.28). Moreover, there were 13 (18.6%) SLE patients suffering from tuberculosis and 7 (10%) SLE patients infected with hepatitis B virus in Tibet plateau group. The number of recent-onset SLE patients with lower 25-dihydroxy-vitamin D3 (25-OH-VD3) in Tibet plateau group was fewer than that in the plain group (76.7% vs. 90.0%, P=0.046). Serum 25-OH-VD3 levels in Tibet plateau plateau group were (31.14±18.74) nmol/L, those in plain group were (26.91±14.27) nmol/L, and the difference was not significant.
CONCLUSION
The age, gender and SLEDAI scores in Tibet plateau group was similar to those in plain group. But there are significant differences in clinical manifestations, distributions of antibodies and immunological changes between Tibet plateau group and plain group. The patients with lower serum 25-OH-VD3 levels were more in plain group than in Tibet plateau group, while there was no significant difference in the 25-OH-VD3 level between the two groups.
Topics: Adult; Antibodies; Arthritis; China; Female; Humans; Lupus Erythematosus, Systemic; Male; Middle Aged; Retrospective Studies; Tibet; Young Adult
PubMed: 30562772
DOI: No ID Found -
Medicine Feb 2022Previous treatment for macrophage activation syndrome (MAS) includes high-dose intravenous methylprednisolone along with intravenous immunoglobulin G. If MAS worsened,... (Review)
Review
RATIONALE
Previous treatment for macrophage activation syndrome (MAS) includes high-dose intravenous methylprednisolone along with intravenous immunoglobulin G. If MAS worsened, second-line therapy consisted of anakinra; if the disease remained refractory, third-line therapy with etoposide was considered. In addition, cyclosporine A plays a role in early MAS and in preventing recurrence. Some studies have reported the use of cytokine-targeting agents other than anakinra, such as canakinumab, tocilizumab, abatacept, and tofacitinib.
PATIENT CONCERNS
The patient with systemic lupus erythematosus (SLE) had an uncommon combination of intermittent fever, hyperferritinemia, hypertriglyceridemia, jaundice, and significantly abnormal liver function test results. The patient reported a history of daily fever of 38 to 39°C, painful oral ulcer, anorexia, abdominal bloating, diarrhea, and malar rash progression for 2 weeks, and jaundice, tea-colored urine, and clay-colored stool for 1 week preceding hospital admission.
DIAGNOSIS
SLE flareups in the patient were initially suspected. However, the final diagnosis was acute respiratory distress syndrome (ARDS) associated with MAS.
INTERVENTIONS
The treatment included disease-modifying antirheumatic drugs (DMARDs), such as azathioprine, and titrated steroid doses of methylprednisolone (40 mg q8 h) and dexamethasone (15 mg q8 h), after the patient had ARDS and was intubated.Dose-adjusted monotherapy with dexamethasone was found to be effective; this may be attributed to some DMARDs being unsuitable for cytokine storms, that is, some DMARDs may cause complications in cytokine storms.
OUTCOMES
After dexamethasone 15 mg q8 h treatment, the patient's fever subsided within 2 days, and liver function became normal within 3 weeks. The patient regularly attended scheduled outpatient follow-up visits after discharge. After 2 years, the patient reported no symptoms or signs of SLE with 2 mg/d oral dexamethasone.
LESSONS
Early diagnosis of MAS and dexamethasone treatment for MAS with ARDS appear to be crucial for these patients.
Topics: Antirheumatic Agents; Cytokine Release Syndrome; Cytokines; Dexamethasone; Humans; Interleukin 1 Receptor Antagonist Protein; Lupus Erythematosus, Systemic; Macrophage Activation Syndrome; Methylprednisolone; Respiratory Distress Syndrome
PubMed: 35119005
DOI: 10.1097/MD.0000000000028612 -
Indian Dermatology Online Journal 2016The elbow is not recognized as common site for cutaneous lupus erythematosus (CLE) lesions. Twelve cases of CLE over the elbows were evaluated for systemic involvement...
The elbow is not recognized as common site for cutaneous lupus erythematosus (CLE) lesions. Twelve cases of CLE over the elbows were evaluated for systemic involvement and Cutaneous Lupus Disease Area and Severity Index activity and damage scores and Systemic Lupus Erythematosus Disease Activity Index scoring was done. Histopathological examination of the affected skin was performed in doubtful cases. Most of the patients were women (10, 83.3%) with mean age of 28.75 years. Three patients had only elbow lesions and the remaining nine patients had CLE lesions at sites other than the elbows, of which five had elbow lesions preceding skin lesions elsewhere over the body and three patients were not aware of whether elbow lesions preceded or succeeded CLE lesions at other sites, and one patient had noticed malar rash 9 months prior to elbow lesions. All the patients antinuclear antibody positivity, systemic involvement, and fulfilled criteria for systemic lupus erythematosus. This peculiar localization of CLE to the elbows may be associated with a greater risk of systemic involvement and may be an predictor of flare of LE.
PubMed: 26952182
DOI: 10.4103/2229-5178.174306 -
Sultan Qaboos University Medical Journal Feb 2014Systemic lupus erythematosus (SLE) is a chronic autoimmune disease characterised by multi-systemic involvement. This is the first study undertaken to determine the...
OBJECTIVES
Systemic lupus erythematosus (SLE) is a chronic autoimmune disease characterised by multi-systemic involvement. This is the first study undertaken to determine the relationships between serological marker positivity and age, gender, signs and symptoms, risk factors and the treatment of SLE in Yemen.
METHODS
We investigated the cases of 149 patients with SLE admitted to Al-Thawra Hospital in Sana'a city between November 2009 and November 2010. Of the 149 patients, females represented 75.2% and males, 24.8%.
RESULTS
The most frequent presenting signs and symptoms were fatigue (84.6%), fever (81.9%), arthropathy (81.2%), anaemia (64.4%), photosensitivity (54.4%), renal involvement (53%), malar rash (52.3%), and alopecia (49%). Antinuclear antibodies (ANA) were detected in 95.3% of the patients and were associated significantly with most clinical presentations, except weight loss, hypertension and serositis. Anti-ds deoxyribonucleic acid (anti-dsDNA) was detected in 59.7% of the patients, and was associated significantly with fever and fatigue. Anti-Smith (anti-Sm) antibodies were detected in 27.5% of the patients, but were not significantly associated with all clinical presentations. Social stress was the most important risk factor for inducing SLE, with an odds ratio (OR) of 6.0, followed by common exposure to sunlight (OR = 2.2).
CONCLUSION
In this study, SLE was more prevalent among females and young adults. The clinical presentation was characterised by a high incidence of fatigue and fever, and a low incidence of oral ulcers and serositis. ANA was associated with most clinical presentations except weight loss, hypertension, and serositis. Anti-dsDNA antibodies were most frequently associated with fever, fatigue and hypertension. There was no significant association of the anti-Sm antibodies with any clinical presentations.
PubMed: 24516759
DOI: 10.12816/0003340 -
The Eurasian Journal of Medicine Feb 2019Systemic lupus erythematosus (SLE) rarely has a late onset. Late-onset SLE (LSLE) has a milder course and less organ involvement. The purpose of the present study was to...
OBJECTIVE
Systemic lupus erythematosus (SLE) rarely has a late onset. Late-onset SLE (LSLE) has a milder course and less organ involvement. The purpose of the present study was to compare the clinical and laboratory (lab) findings of SLE regarding age at onset.
MATERIALS AND METHODS
Seventy-two patients with SLE were included in the study. The age at onset was considered adult-onset SLE (ASLE) if it was <50 years and LSLE if it was ≥50 years. Lab parameters and clinical findings were compared accordingly.
RESULTS
Overall, 41 (56.9%) patients had ASLE, and 31 (43.05%) patients had LSLE based on the age at onset. The ratio of female-to-male patients was higher in ASLE, and no significant difference was found with regard to gender distribution (12.6:1 and 5.2:1 for ASLE and LSLE, respectively; p=0.239). While malar rash and fever were more common in ASLE, no difference was found regarding the other clinical findings. Only IgG anti-cardiolipin was more common in LSE between the lab parameters.
CONCLUSION
Although it is known that LSLE has a milder course and less organ involvement, there are differences in clinical and lab findings and organ involvement in various studies. The results of our study showed no significant difference in organ involvement between ASLE and LSLE.
PubMed: 30911250
DOI: 10.5152/eurasianjmed.2018.18022