Systemic Lupus Erythematous (SLE)
Systemic Lupus Erythematous (SLE) is a multi-system, autoimmune, inflammatory disease that commonly affects Afro-Caribbeans women of child-bearing age (peak age of onset 20-40 years). It's the presence of Anti-Nuclear Ab’s (ANA) and anti-dsDNA that leads to the chronic inflammation.
The main causes of death in these patients is CVD and Lupus Nephritis.
Presentation
Follows a relapsing-remitting course, with flares being triggered by:
Overexposure to sunlight
Infections
Stress
Oestrogen-containing contraception (e.g. COCP)
Clinical features include:
Non-specific symptoms - Fatigue, Weight loss, Fever, Malaise
Arthralgia
Photosensitive Malar rash - butterfly-shaped rash worsened by sunlight
Mouth/nose/genital ulcers
Lymphadenopathy, Splenomegaly
CVS - Raynaud’s, Pericarditis, Myocarditis
Lupus nephritis - usually asymptomatic before presenting as nephritic/otic syndrome
Investigations
Bloods:
ANA - +ve in most cases but not diagnostic
Anti-dsDNA and Anti-Smith - Much more SLE specific than ANA, so can be diagnostic
Anti-dsDNA can also be used to monitor disease activity and response to treatment
C3, C4 - Low
Anti-phospholipid (e.g. Anticardiolipin)
ESR
FBC and Clotting - A raised PT suggests presence of lupus anticoagulant and should prompt checking for anti-phospholipid syndrome. These patients often also have anaemia of chronic disease.
U+Es and urinalysis - screen for renal involvement
Important to assess for Lupus Nephritis with Urinalysis (check for haematuria), ACR (check for proteinuria), and Renal biopsy.
Diagnosis
For a diagnosis, there has to be 4+ findings (at least 1 clinical and 1 laboratory) OR Biopsy-proven Lupus nephritis with +ve ANA/Anti-dsDNA.
Clinical findings - SOAP BRAIN MD:
Serositis (pleuritis, pericarditis)
Oral ulcers
Arthritis
Photosensitivity
Blood (pancytopenia)
Renal (proteinuria)
ANA
Immunological (dsDNA etc.)
Neurologic (psych, seizures)
Malar rash
Discoid rash
Labaratory findings:
ANA +ve
Anti-dsDNA +ve
Anti-Smith +ve
Anti-cardiolipin +ve
Low complement (C3 or C4)
+ve Direct Coombs test
Management
The mainstay of treatment is:
NSAIDs and Hydroxychloroquine for mild disease +/- short-term corticosteroids for flares
Sunscreen for photosensitive malar rash
If there's prominent organ involvement, patients are given long-term corticosteroids, which is usally co-prescribed with DMARDs as a ‘steroid sparing agent’ therefore allowing for a lower steroid dose to be used.
In the severe flares with renal, neurological or haematological effects, high-dose corticosteroids in combination with immunosuppressants, such as Cyclophosphamide, are usually most effective. The renal involvement may lead to HTN, for which an ACEi should be prescribed.
Antiphospholipid Syndrome (APS)
This is a hypercoagulable state due to the presence of anti-cardiolipin, leading to clots as well as pregnancy-related complications, like miscarriage, stillbirth and pre-eclampsia.
Presentation - CLOT:
Coagulation defect - usually VTE, but can be arterial
Livedo reticularis - mottled, cyanotic skin discolouration
Obstetric - recurrent miscarriage, pre-eclampsia
Thrombocytopenia
Diagnosed with 1+ of the following +ve on 2 occasions, 12-weeks apart:
Anti-cardiolipin
Anti-beta2-GPI
Positive lupus anticoagulant assay
Management:
75 mg Aspirin and LMWH - warfarin avoided as it’s teratogenic
Avoid COCP/HRT to reduce risk of VTE
N.B. It's important to note that, outside of pregnancy, APS is treated with Warfarin.
Important Links:
https://www.nhs.uk/conditions/lupus/
https://bestpractice.bmj.com/topics/en-gb/103 “Deep Vein Thrombosis” © BruceBlaus CC BY 3.0 (https://creativecommons.org/licenses/by/3.0/)