Connective Tissue disease : Lupus Flashcards
Hereditary vs autoimmune connective tissue disease
Hereditary from parents
Autoimmune from self
Types of connective tissue disease:
Connective tissue diseases due to single-gene defects Ehlers-Danlos syndrome (EDS)
Epidermolysis bullosa (EB)
Marfan syndrome
Osteogenesis imperfecta
Connective tissue diseases characterized by inflammation of tissues(autoimmune diseases).
◦ Polymyositis
◦ Dermatomyositis
◦ Rheumatoid arthritis (RA)
◦ Scleroderma
Raynaud’s phenomenon – primary or secondary
• is usually triggered by cold temperatures, anxiety or stress.
• temporary spasm of blood vessels which blocks the flow of blood.
• triphasic colour change – white, blue, red (paler if dark skin)
• fingers, toes, ears, nose, lips or nipples
• symptoms
◦ pain
◦ numbness
◦ pins and needles
Insufficient blood to extremities:
Digital ulceration
Digital gangrene
Amputation
Management:
• Keep warm
• Stop smoking
• Calcium channel blockers
• Iloprost
• Sildenafil
Systemic lupus erythematosis
Onset and prevalence
• Prevalence that ranges from about 0.03% in Caucasians to 0.2% in Afro-Caribbeans
• 90% of affected patients are female
• Peak age at onset is between 20 and 30 years
• Fivefold increase in mortality compared to age- and gender-matched controls (cardiovascular disease)
SLE pathophysiology
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Genetic factors -
◦ monozygotic twins,
◦ polymorphic variants at the HLA locus.
◦ inherited mutations in complement components C1q, C2 and
C4, in the immunoglobulin receptor FcγRIIIb or in the DNA
exonuclease TREX1.
◦ polymorphisms of genes that predispose to SLE, most of which
are involved in regulating immune cell function
• Autoantibody production
Usually directed against antigens present within the cell or
within the nucleus.
Clinical features
Variable
Systemic features include: ◦ fever
◦ weight loss
◦ mild lymphadenopathy ◦ fatigue
◦ arthralgia
• Continuing symptoms and flares/exacerbations
Butterfly rash
Joints
• Arthralgia seen in 90% of patients, with early morning stiffness.
• Tenosynovitis may result in tendon damage
• Synovitis is rare
• Jaccoud’s arthropathy is rare (related to chronic tenosynovitis/damage as opposed erosive disease)
Raynaud’s phenomenon
• Is a common symptom and may predate others symptoms
• Consider secondary Raynaud’s:
◦ age at onset of over 25 years,
◦ absence of a family history of Raynaud’s phenomenon,
◦ male patient
• Examination
capillary nail-fold loops (and oil placed on the skin) can show loss of the normal loop pattern
chronic ischaemia may lead to colour change
digital ulcers in severe disease
SLE: skin
• Classic facial rash (up to 20% of patients)- erythematous, raised and painful or itchy over the cheeks with sparing of the nasolabial folds
• Discoid rash (hyperkeratosis and follicular plugging which can cause scarring alopecia if involves the scalp
• Diffuse, non-scarring alopecia
• Urticaria- hives
• Livedo reticularis
SLE : renal disease (year 3)
• hallmark of severe disease
• regular urinalysis and blood pressure is essential
• proliferative glomerulonephritis
• presents with heavy haematuria, proteinuria and casts on urine microscopy.
SLE: Cardiovascular disease (yr2)
• Heart: Pericarditis, myocarditis and Libman–Sacks endocarditis (sterile vegetations)
• Arteries: Atherosclerosis is greatly increased causing a higher risk of stroke and myocardial infarction, due to:
◦ effects of inflammatory disease on the endothelium
◦ long term steroid therapy
◦ antiphospholipid antibodies
SLE: Lung involvement (yr2)
• Pleuritic pain (serositis) or pleural effusion
• Less common:
◦ pneumonitis, atelectasis, reduced lung volume and pulmonary fibrosis that leads to breathlessness
• Increased risk of thromboembolism (DVT,PE) is increased, especially if antiphospholipid antibodies present
SLE: neurological involvement & gastrointestinal involvement
Headache and poor concentration are common
Less commonly: sterile meningitis
Mouth ulcers are common
Peritoneal serositis can cause acute pain
Mesenteric vasculitis is serious (abdominal pain, bowel infarction or perforation)
Hepatitis is rare
SLE: Haematological abnormalities (yr2)
• Antibody-mediated destruction of peripheral blood cells may cause:
◦ Neutropenia
◦ Lymphopenia
◦ Thrombocytopenia
◦ Haemolytic anaemia
The degree of lymphopenia is an indictor of disease activity.
SLE: APLS – anti phospholipid syndrome
(Year 2)
• Vascular thrombosis
• Pregnancy loss
◦ Early or late
Lab criteria:
Lupus anticoagulant Anticardiolipin antibodies
on 2 occasions 3 months apart
Caused by SLE antibody
SLE in pregnancy and Infants (yr4)
• Pregnancy loss – 13.1% total
◦ First – 6.0%, later 7.1%
• Preterm birth – 40.5%
Antibodies cross the placenta :
Pericardial effusion and conduction defects
Skin rash
