- Systemic Lupus Erythematosus for Primary Care. [Review]
- PCPrim Care 2018; 45(2):257-270
- Systemic lupus erythematosus is a chronic autoimmune condition with variable organ system involvement; manifestations can range from mild to potentially life threatening. Early diagnosis is important...
Systemic lupus erythematosus is a chronic autoimmune condition with variable organ system involvement; manifestations can range from mild to potentially life threatening. Early diagnosis is important, as progression of disease can be halted. Diagnosis is made by review of signs and symptoms, imaging, and serology.
- Approach to Patients with Suspected Rheumatic Disease. [Review]
- PCPrim Care 2018; 45(2):169-180
- Patients with rheumatic disease may present with a myriad of symptoms, from joint pain and rashes to more subtle findings, such as dry eyes and dry mouth. In this article, the authors review in detai...
Patients with rheumatic disease may present with a myriad of symptoms, from joint pain and rashes to more subtle findings, such as dry eyes and dry mouth. In this article, the authors review in detail the common presenting symptoms of rheumatic disease along with key features in the history and physical examination to help distinguish these from other disease processes.
- Systemic lupus erythematosus in a patient with Noonan syndrome-like disorder with loose anagen hair 1: More than a chance association. [Journal Article]
- AJAm J Med Genet A 2018 May 07
- Systemic lupus erythematosus (SLE) has been reported among patients with RASopathy. Five patients have been reported: three with SHOC2 variants, one with a PTPN11 variant, and one with a KRAS variant...
Systemic lupus erythematosus (SLE) has been reported among patients with RASopathy. Five patients have been reported: three with SHOC2 variants, one with a PTPN11 variant, and one with a KRAS variant. SHOC2 variant might represent a relatively common predisposing factor for SLE among the RASopathy genes. However, the clinical details were only reported for two patients, while information on the remaining patient appeared only in a tabular format with minimal clinical description. Here, we report a patient with a SHOC2 variant and SLE. The proband was a 28-year-old male patient with intellectual disabilities, a short stature, dysmorphic facial features, and thin hair. He developed hypertrophic cardiomyopathy and afebrile generalized seizures at the ages of 7 and 18 years, respectively. At the age of 24 years, he presented with a 3-day history of intermittent fever accompanied by right chest pain and a malar butterfly rash. He fulfilled both the American College of Rheumatology (ACR) criteria and the Systemic Lupus International Collaborating Clinics (SLICC) criteria for SLE and was successfully treated with prednisolone. Medical exome sequencing identified a de novo SHOC2 variant (c.4A > G, p.S2G). The present report of a second patient who fulfills both the ACR criteria and the SLICC criteria of SLE. We suggest that the association between SHOC2 variant and SLE represents more than a chance association. In the event of fever of unknown origin in patients with constitutional SHOC2 pathogenic variant, SLE should be suspected.
- Pulmonary lymphangioleimyomatosis and systemic lupus erythematosus in a menopausal woman. [Journal Article]
- BNBMC Nephrol 2018 Apr 18; 19(1):90
- CONCLUSIONS: We report a patient with coexisting SLE and PLAM, who was treated with immunosuppressive therapy. SLE was stable but PLAM was not improved. Although the coexistence of SLE and PLAM might be a coincidence, the occurrence of these two diseases in a menopausal woman may warrant further mechanistic exploration.
- The devil's in the dosing: severe drug-induced liver injury in a hydroxychloroquine-naive patient with subacute cutaneous lupus erythematosus and porphyria cutanea tarda. [Journal Article]
- LLupus 2018 Jan 01; :961203318768884
- A 29-year-old woman with a 1.5 year history of photosensitive skin lesions on her hands presented with a malar rash, bullous lesions on her hands, and was diagnosed with subacute lupus erythematosus ...
A 29-year-old woman with a 1.5 year history of photosensitive skin lesions on her hands presented with a malar rash, bullous lesions on her hands, and was diagnosed with subacute lupus erythematosus after serologies revealed a positive antinuclear antibody test (1:2560), and antibodies to Ro/SSA and dsDNA. Hydroxychloroquine (400 mg/day) was prescribed and the patient developed severe drug-induced liver injury. Biopsy of her bullous skin lesions was consistent with porphyria cutanea tarda, as were her serological and urinary exams. She was successfully treated with therapeutic phlebotomy. This case identifies porphyria cutanea tarda as an important differential diagnosis for the rheumatologist to consider when evaluating patients with bullous skin lesions. Hydroxychloroquine in lower doses is an effective treatment for porphyria cutanea tarda; at doses used to treat systemic lupus erythematosus and subacute cutaneous lupus, there is a potentially life-threatening complication of hepatotoxicity.
- Papulonodules, malar rash, and arthritis in a male. [Journal Article]
- SJScand J Rheumatol 2018 Apr 10; :1-2
- Improving the quality of care and patient experience of care during the diagnosis of lupus: a qualitative study of primary care. [Journal Article]
- LLupus 2018; 27(7):1088-1099
- Purpose To better understand diagnostic delay and doctor-patient communication during the diagnosis of systemic lupus erythematous in patients without malar rash, we conducted a qualitative study of ...
Purpose To better understand diagnostic delay and doctor-patient communication during the diagnosis of systemic lupus erythematous in patients without malar rash, we conducted a qualitative study of primary care providers' perceptions. Methods We conducted in-depth interviews with a purposive sample of eight primary care physicians in Kaiser Permanente Northern California. Telephone interviews were recorded, transcribed, reviewed, and coded for domains and themes. Results We identified five domains related to diagnosis: initial assessment and tests, initial diagnosis and empiric treatment, timeliness of diagnosis, communicating with the patient, and opportunities for improvement. In the absence of malar rash, the lupus manifestations are common while the disease is rare. Once the primary care provider believes that the disease may be autoimmune, they work with a rheumatologist, but this could take months. Initially, the physician assesses whether the condition is self-limiting or responds to empiric treatments. Over time, as empiric treatments fail or additional lupus manifestations emerge, the primary care provider makes a referral. Doctor-patient communication is critical to help the physician make sense of the symptoms, maintain trust, and assure the patient that he or she is receiving appropriate care. Patient persistence and communication are critically important. Continuing education was deemed essential by each physician. Conclusion In the absence of malar rash, a lupus diagnosis can be difficult. Enhanced doctor-patient communication, patient persistence, physician access to rheumatology and continuing education of primary care might improve time to diagnosis and the patient's experience with primary care. This knowledge is transferable to other rare, complex diseases.
- The lupus patient with positive rheumatoid factor. [Journal Article]
- LLupus 2018 Jan 01; :961203318759607
- Background Patients with systemic lupus erythematosus (SLE) may form clusters with clinical manifestations and autoantibodies. Objective The objective of this report is to study whether SLE patients ...
Background Patients with systemic lupus erythematosus (SLE) may form clusters with clinical manifestations and autoantibodies. Objective The objective of this report is to study whether SLE patients with positive rheumatoid factor (RF) have a special clinical and/or serological profile. Methods A retrospective study of 467 SLE patients seen at a single rheumatology unit was conducted. Epidemiological data (age, gender, age at disease onset, ethnic background and tobacco use), clinical data (malar rash, photosensitivity, oral ulcers, discoid lesions, serositis, glomerulonephritis, convulsions, psychosis, hemolytic anemia, leukopenia, lymphocytopenia, arthritis and hypothyroidism) and serological profile (anti-dsDNA, anti-Ro/SS-A, anti-La/SS-B, anti-RNP, anti-Sm, IgG aCL, IgM aCL, lupus anticoagulant, direct Coombs and RF) were collected. Patients with positive and negative RF were compared. Results RF was found in 24.9% of the sample. In univariate analysis, RF was positively associated with butterfly rash ( p = 0.04), anti-Ro ( p = 0.03), anti-Sm antibodies ( p = 0.01) and hypothyroidism ( p = 0.01) and negatively associated with glomerulonephritis ( p = 0.003). Logistic regression showed that only glomerulonephritis ( p = 0.03; OR = 0.45; 95% CI = 0.21-0.93) and anti-Ro ( p = 0.009; OR = 2.3; 95% CI = 1.24-4.57) were independent associations. Conclusion In our sample RF was associated with protection from glomerulonephritis and with higher prevalence of anti-Ro antibodies.
- Characteristics of systemic lupus erythematosus in a sample of the Egyptian population: a retrospective cohort of 1109 patients from a single center. [Journal Article]
- LLupus 2018; 27(6):1030-1038
- Introduction Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease that can vary among different ethnic and racial groups. Objective The objective of this paper is to study the preva...
Introduction Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease that can vary among different ethnic and racial groups. Objective The objective of this paper is to study the prevalence of various manifestations of SLE in a sample of the Egyptian population. Patients and methods Information in this study was derived from the medical records of SLE patients who sought medical advice at a private clinic in Cairo from January 1980 to June 2016. Results This study included 1109 SLE patients, of whom 114 (10.3%) were males and 995 were females (89.7%). Mean age of onset was 25.89 ± 10.81 years, while the median of disease duration from the onset of the disease till the last recorded visit was 26 months. The most common cumulative manifestations were arthritis (76.7%), malar rash (48.5%), leukopenia (45.7%), and photosensitivity (45.6%). A total of 33.1% of the patients had nephritis, and neuropsychiatric lupus was present in 6.4% of the patients. Secondary antiphospholipid syndrome was present in 11.5% of the patients. Antinuclear antibody and anti-double-stranded deoxyribonucleic acid were present in 1060/1094 (96.9%) and 842/1062 (79.3%) of the patients, respectively. Antiphospholipid antibodies were present in 266/636 (41.8%) of the patients, anti-Smith in 54/240 (22.5%), anti-SSA/Ro in 61/229 (20.4%), and anti-SSB/La in 32/277 (11.6%) of the patients. Male patients had a statistically higher prevalence of nephritis ( p = 0.01), whereas arthritis and alopecia were statistically higher in females ( p = 0.012 and p = 0.006, respectively). Patients with juvenile onset had a statistically higher prevalence of nephritis and seizures ( p < 0.001 and p = 0.012, respectively). Conclusions Arthritis and malar rash represented the most common clinical manifestations. Male and juvenile-onset patients had a predilection toward a more severe disease. These results are in agreement with many studies conducted in the Middle East and worldwide. On the other hand, major organ involvement was exceptionally low, which is contradictory to several reports from the Middle East and across the globe.
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- Association of interleukin-10 gene single nucleotide polymorphisms with susceptibility to systemic lupus erythematosus in a Chinese population. [Journal Article]
- GENEGene 2018 Feb 05; 642:549-554
- The aim of this study was to investigate the association of interleukin (IL)-10 gene single nucleotide polymorphisms (SNPs) with susceptibility to systemic lupus erythematosus (SLE) in a Chinese popu...
The aim of this study was to investigate the association of interleukin (IL)-10 gene single nucleotide polymorphisms (SNPs) with susceptibility to systemic lupus erythematosus (SLE) in a Chinese population. 848 SLE patients and 461 normal controls were recruited in this study. Nine SNPs in IL-10 gene (rs1518110, rs1518111, rs1554286, rs1800890, rs1800893, rs3024493, rs3024495, rs3024498 and rs6667202) were genotyped using TaqMan genotyping assays on Fluidigm 192.24 system. The frequency of IL-10 rs3024498-C allele was significantly higher in patient group compared with control subjects (OR=5.118, 95% CI=1.819-14.405, P=0.002). No significant differences were detected for the distribution of allele and genotype frequencies of other eight SNPs between patients with SLE and controls after Bonferroni correction (all P>0.0056). Interestingly, significant differences were detected both in the allele and genotype frequencies of rs3024498 between SLE patients with and without arthritis (P=0.002, P=0.022, respectively).There was significant difference in genotype frequency at rs3024498 between SLE patients with and without malar rash (P=0.040). And, there was significant difference in allele frequency at rs3024498 between SLE patients with and without anti-double-stranded DNA (P=0.032). Meanwhile, significant difference in genotype frequency at rs1518110 and rs1518111 were found in patients with and without lupus headache (P=0.025, P=0.038, respectively). There were significant difference in allele and genotype frequency at rs1800890 and rs6667202 between SLE patients with and without thrombocytopenia (rs1800890: P=0.016, P=0.026, respectively; rs6667202: P=0.007, P=0.007, respectively). Further, significant difference were observed both in allele frequency and in genotype distribution of rs1800893 between patients with and without tubular urine and proteinuria (tubular urine: P<0.001, P=0.003, respectively; proteinuria: P=0.001, P=0.018, respectively). In summary, IL-10 rs3024498 polymorphism might contribute to SLE susceptibility and several clinical phenotypes.