In addition, pancreatitis can result from SLE or perhaps from its treatment with high-dose corticosteroids or azathioprine. Manifestations may include abdominal pain resulting from serositis, nausea, vomiting, manifestations of bowel perforation, and pseudo-obstruction. SLE rarely causes parenchymal liver disease.
SLE should be suspected in patients, particularly young women, with any of the symptoms and signs. However, early-stage SLE can mimic other connective or nonconnective tissue disorders, including RA if arthritic symptoms predominate. Mixed connective tissue disease can mimic SLE but also may involve features of systemic sclerosis, rheumatoid-like polyarthritis, and polymyositis. Infections eg, bacterial endocarditis, histoplasmosis can mimic SLE and may develop as a result of treatment-caused immunosuppression. Disorders such as sarcoidosis and paraneoplastic syndromes can also mimic SLE.
Laboratory testing differentiates SLE from other connective tissue disorders. Routine testing should include the following:. At least 4 of 17 criteria, including at least 1 of the 11 clinical criteria and 1 of the 6 immunologic criteria.
Rheumatology/ connective tissue disease
Clinical criteria. Lupus malar rash malar discoid rash not counted , bullous lupus, toxic epidermal necrolysis variant of SLE, maculopapular lupus rash, photosensitive lupus rash in the absence of dermatomyositis. Classic discoid rash, localized above the neck discoid rash, generalized above and below the neck discoid rash, hypertrophic verrucous lupus, lupus panniculitis profundus , mucosal lupus, lupus erythematosus tumidus, chilblain lupus. Diffuse thinning or hair fragility with visible broken hairs in the absence of other causes such as alopecia areata, drugs, iron deficiency, and androgenic alopecia.
Seizures, psychosis, multiple mononeuropathy in the absence of other known causes such as primary vasculitis , myelitis, peripheral or cranial neuropathy in the absence of other known causes such as primary vasculitis, infection, and diabetes mellitus. Acute confusional state in the absence of other causes, including toxic and metabolic causes, uremia, or drugs.
Immunologic criteria. Arthritis Rheum 64 8 —, However, positive ANA tests can also occur in RA, other connective tissue disorders, autoimmune thyroid disease, cancers, and even in the general population.
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Drugs such as hydralazine , procainamide , and TNF-alpha antagonists can produce positive ANA results as well as a lupus-like syndrome; the ANA eventually becomes negative if the drug is stopped. The ANA test is very sensitive, but it is not specific for SLE; thus, evidence of other autoantibodies is needed to establish the diagnosis. Ro is predominantly cytoplasmic; anti-Ro antibodies are occasionally present in ANA-negative SLE patients presenting with chronic cutaneous lupus.
Anti-Ro is the causal antibody for neonatal lupus and congenital heart block.
Anti-RNP occurs in patients with SLE, mixed connective tissue disease, and occasionally other systemic autoimmune disorders and systemic sclerosis. Leukopenia usually lymphopenia is common. Hemolytic anemia may occur. Thrombocytopenia in SLE may be difficult or impossible to differentiate from idiopathic thrombocytopenic purpura except that patients have other features of SLE.
These test results may be associated with the lupus anticoagulant and a prolonged PTT. Abnormal values in one or more of these assays suggest the presence of antiphospholipid antibodies eg, anticardiolipin antibodies , which should then be measured directly by enzyme-linked immunosorbent assay ELISA. Antiphospholipid antibodies are associated with arterial or venous thrombosis, thrombocytopenia, and, during pregnancy, spontaneous abortion or late fetal death but may be present in asymptomatic patients. A positive direct Coombs test in the absence of hemolytic anemia is one criterion for the diagnosis of lupus.
Other tests help monitor disease severity and determine the need for treatment. Serum complement levels C3, C4 are often depressed in active disease and are usually lowest in patients with active nephritis. ESR is elevated frequently during active disease. C-reactive protein levels are not necessarily elevated. Screening for renal involvement begins with urinalysis. Urinalysis should be done at regular intervals, even for patients in apparent remission, because kidney disease may be asymptomatic.
Renal biopsy is helpful in evaluating the status of renal disease ie, active inflammation vs postinflammatory scarring and in guiding therapy. Patients with chronic renal insufficiency and mostly sclerotic glomeruli are not likely to benefit from aggressive immunosuppressive therapy. The course is usually chronic, relapsing, and unpredictable. Remissions may last for years.
If the initial acute phase is controlled, even if very severe eg, with cerebral thrombosis or severe nephritis , the long-term prognosis is usually good. Improved prognosis is in part due to earlier diagnosis and more effective therapies. Complications include infection from immunosuppression or osteoporosis from long-term corticosteroid use. Increased risk of coronary artery disease can contribute to premature death.
To simplify therapy, SLE should be classified as mild eg, fever, arthritis, pleurisy, pericarditis, headache, rash or severe eg, hemolytic anemia, thrombocytopenic purpura, massive pleural and pericardial involvement, significant renal damage, acute vasculitis of the extremities or GI tract, florid CNS involvement, diffuse alveolar hemorrhage.
Mixed Connective Tissue Disease - MCTD | ARUPConsult
The antimalarial drug hydroxychloroquine is indicated for all patients with SLE regardless of disease severity because it decreases disease flares and decreases mortality 1 ; however, hydroxychloroquine is not used in patients with G6PD deficiency because it can cause hemolysis. Antimalarials help, particularly when joint and skin manifestations are prominent. Hydroxychloroquine reduces the frequency of SLE flares and decreases mortality. Baseline ophthalmologic examination should be done before starting therapy to exclude maculopathy.
Ophthalmologic screening should be done yearly after the drug has been used for 5 yr to assess retinal toxicity. See also recommendations on screening for chloroquine and hydroxychloroquine retinopathy. Hydroxychloroquine can rarely cause skeletal or cardiac muscle toxicity. Treatment includes induction therapy to control acute severe manifestations followed by maintenance therapy. Corticosteroids are first-line therapy.
A combination of prednisone and other immunosuppressants is typically used in active, serious CNS lupus, recurrent serositis, vasculitis, skin manifestations that do not respond to hydroxychloroquine , diffuse alveolar hemorrhage, cardiac manifestations, or active lupus nephritis. The complication with the strongest evidence for efficacy is lupus nephritis.
Methylprednisolone 1 g by slow 1-h IV infusion on 3 successive days is often the initial treatment. Cyclophosphamide or mycophenolate mofetil especially in blacks is usually also used for induction therapy. Using 50 mL of normal saline, mix ondansetron 10 mg and dexamethasone 10 mg and infuse over 10 to 30 min. Using mL of normal saline, mix in mesna mg used to bind acrolein, a metabolite of cyclophosphamide that is a bladder irritant and infuse along with mL of normal saline before the infusion of cyclophosphamide.
Using mL of normal saline, mix in mesna mg and infuse second dose of mesna.
Total dose of mesna should be equal to the total dose of cyclophosphamide used. Patient should be encouraged to drink plenty of fluids and to empty bladder every 2 h. Patient must take ondansetron 8 mg po the next morning. In CNS lupus, including transverse myelitis, treatment recommendations are based on anecdotal evidence, and options include cyclophosphamide or IV rituximab. Patients with end-stage renal disease can undergo kidney transplantation, as an alternative to dialysis, with a successful outcome, especially if their disease has been in remission.
What to expect during an ANA test
Improvement of severe SLE often takes 4 to 12 wk. Thrombosis or embolism of cerebral, pulmonary, or placental vessels requires short-term treatment with heparin and longer treatment with warfarin. If the diagnosis of antiphospholipid syndrome is confirmed, lifelong therapy is usually indicated. The target INR is usually 2 to 3. For most patients, the risk of flares can be decreased without prolonged high-dose corticosteroids.
Chronic disease should be treated with the lowest dose of corticosteroids and other drugs that control inflammation eg, antimalarials, low-dose immunosuppressants to maintain remission. Treatment should be guided by clinical features primarily, although anti-dsDNA antibody titers or serum complement levels may be followed, particularly if they have correlated with disease activity in the past.
Other pertinent blood and urine tests may be used to assess specific organ involvement. Anti-dsDNA antibody titers or serum complement levels may not parallel nonrenal disease flares. If a patient needs long-term high-dose corticosteroids, alternative oral immunosuppressants such as azathioprine should be considered. Calcium, vitamin D, and bisphosphonate therapy see prevention of osteoporosis should be considered in patients taking corticosteroids long term.
All patients should be closely monitored for atherosclerosis, and cardiovascular risk reduction is a key part of management see treatment of atherosclerosis. Long-term anticoagulation is vital in patients with antiphospholipid antibodies and recurrent thrombosis see Deep Venous Thrombosis DVT : Anticoagulants. Pregnant women should remain on hydroxychloroquine throughout their pregnancy, and low-dose aspirin is recommended as well.
When clinical antiphospholipid syndrome is present, as manifested by prior thrombotic events, full anticoagulation therapy with low molecular weight or unfractionated heparin is advised. If the pregnant woman has positive antiphospholipid syndrome antibodies and prior late-stage fetal loss or recurrent 1st trimester miscarriages, prophylactic low molecular weight or unfractionated heparin can be considered during pregnancy and 6 wk postpartum. When the patient has positive serologies but no prior obstetric or thrombotic events, recommendations are less clear.
Comanagement by a hematologist, an obstetrician, and a rheumatologist is key in managing these patients. Ann Rheum Dis 66 9 —, Joint and skin manifestations are classic in SLE, but the disorder can affect various organ systems, such as the skin, heart and lungs, lymphoid tissue, kidneys, and GI, hematologic, reproductive, and nervous systems.
Use the SLICC clinical and immunologic criteria to confirm the diagnosis when possible, or do a kidney biopsy. Among tests, use the highly sensitive ANA for screening, but use more specific autoantibodies eg, anti-dsDNA, anti-Sm for confirmation. Treat all patients with hydroxychloroquine or another antimalarial and, for mild disease, NSAIDs as needed. Use corticosteroids for moderate or severe SLE and an immunosuppressant for active lupus nephritis, CNS lupus, skin manifestations that do not respond to hydroxychloroquine , diffuse alveolar hemorrhage, vasculitis, recurrent serositis, or cardiac manifestations.
DLE, also sometimes called chronic cutaneous lupus erythematosus, is a set of skin changes that can occur as part of lupus, with or without systemic involvement. Skin lesions begin as erythematous plaques and progress to atrophic scars. They cluster in light-exposed areas of the skin, such as the face, scalp, and ears.
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Untreated, lesions extend and develop central atrophy and scarring. There may be widespread scarring alopecia. Mucous membrane involvement may be prominent, especially in the mouth. Sometimes lesions are hypertrophic and may mimic lichen planus called hypertrophic or verrucous lupus. Patients presenting with typical discoid lesions should be evaluated for SLE.
Biopsy should be done from the active margin of a skin lesion. Early treatment of DLE can prevent permanent atrophy. Exposure to sunlight or ultraviolet light should be minimized eg, using potent sunscreens when outdoors. This content does not have an English version. This content does not have an Arabic version. Diagnosis Your doctor is likely do these tests: Physical exam to check for swollen hands and painful, swollen joints Blood test, which can determine whether you have a certain antibody in your blood that is associated with mixed connective tissue disease.
Request an Appointment at Mayo Clinic. Share on: Facebook Twitter. References Bennett RM. Clinical manifestations of mixed connective tissue disease. Accessed April 14, Mixed connective tissue disease. Merck Manual Professional Version. National Organization for Rare Disorders. Rochester, Minn. Bennett RM. Definition and diagnosis of mixed connective tissue disease. Ferri FF. In: Ferri's Clinical Advisor Philadelphia, Pa. Mason RJ, et al.