Multi-system Autoimmune Disease (Connective tissue) Flashcards
What are the multi-system connective tissue diseases
Systemic Lupus Erythematosus
Systemic sclerosis
Sjogren’s syndrome
Auto-immune myositis
Mixed connective tissue disease
What are mixed connective tissue diseases
Raynaud’s
Soft tissue swelling/sclerodactyly
Myositis
Arthralgia
What are the systematic vasculitidies
Giant cell arteritis
Granulomatosis with polyangiitis (Wegeners)
Microscopic polyangiitis
Eosinophilic granulomatosis with polyangiitis (Churg-Strauss syndrome)
What are the differential diagnosis for systematic autoimmune disease
Malignancy - lymphoma
Infections - endocarditis, hepatitis B and C, TB, HIV
Drugs - cocaine, Minocyline (mimics LE) ,
υ Propylthiouracil (anti…nasculitis)
Cardiac myxoma
Cholesterol emboli
Scurvey
What is Systematic Lupus Erythematosus
Systemic lupus erythematosus (SLE) is a chronic disease that causes inflammation in connective tissues, such as cartilage and the lining of blood vessels, which provide strength and flexibility to structures throughout the body.
What is epidemiology of Systematic Lupus Erythematosus
UK Prevalence: 28/100,000
UK incidence: 4/100,000
Female : Male 9:1
Onset: 15-50 years
Significant ethnic diversity:
Afro-Caribbean>Asian>Caucasian
What is genetics of SLE
- High concordance rate of SLE in monozygotic twins
- Sibling risk for developing SLE is 30-fold higher than in the general population
- Polygenic mode of inheritance (100 genes responsible to susceptibility)
What is aetiology of SLE
Hormonal factors (oestrogen increases chance)
Environmental factors - Ultraviolet light - Drugs o New biologics o Anti-viral agents - Infections
What is pathophysiology of SLE
SLE is characterised by anti-nuclear antibodies. These are antibodies to proteins within the persons own cell nucleus. This causes the immune system to target theses proteins. When the immune system is activated by these antibodies targeting proteins in the cell nucleus it generates an inflammatory response. Inflammation in the body leads to the symptoms of the condition. Usually, inflammation is a helpful response when fighting off an infection however it creates numerous problems when it occurs chronically and against the tissues of the body.
What are presenting symptoms of SLE
Fatigue
Weight loss
Arthralgia (joint pain) and non-erosive arthritis - bilateral
Myalgia (muscle pain)
Fever
Photosensitive malar rash.
This is a “butterfly” shaped rash across the nose and cheek bones that gets worse with sunlight.
Lymphadenopathy and splenomegaly
Shortness of breath
Pleuritic chest pain
Mouth ulcers
Hair loss
Raynaud’s phenomenon
What should you do for every patient with SLE
Check urinalysis for every patient with SLE suspicion
Look for Proteinuria, Haematuria
Lupus Nephritis is a major cause of death
What auto antibodies are seen in SLE
Anti-Nuclear antibodies
Anti -ds DNA
Anti -Sm (Smith)
Anti–Ro
Antiphospholipid antibodies
Describe Anti-Nuclear antibodies
Antinuclear antibodies
- Seen in 95% of SLE
- BUT Not specific for SLE
Seen in many inflammatory, infectious, and neoplastic diseases
Seen in 5% to 15% of healthy population
Describe Anti -ds DNA
Seen in 60% of patients with SLE
Highly specific for SLE
Low titre rarely seen in other inflammatory conditions
Strongest clinical association is with nephritis
Describe Anti -Sm (Smith)
Seen in 10% to 30% of SLE patients
Highly specific for SLE
Describe Anti–Ro
Risk of foetal congenital heart block
Neonatal lupus
Describe Antiphospholipid antibodies
Anti-cardiolipin, lupus anticoagulant
arterial/venous thrombosis
miscarriages
What is Systematic Sclerosis
Systemic sclerosisis a rare chronic disease of unknown cause characterized by diffuse fibrosis and vascular abnormalities in the skin, joints, and internal organs (especially the esophagus, lower gastrointestinal tract, lungs, heart, and kidneys).
Where do you get localised scleroderma
- Just fibrostic invo skin and subcutarous tissue
What are the forms of Systemic sclerosis
Limited cutaneous systemic sclerosis (CREST)
o Skin involvement distal to the elbow and knees
o Calcinosis, Raynaulds Phenomenon, Oeseophageal dysmotility, Sclerodatly, Telangiectasia
Diffuse cutaneous systemic sclerosis
Skin involvement proximal to knees and elbows and truncal involvement
What is epidemiology of systematic sclerosis
UK Prevalence: 24/100,000
UK Incidence: 10/1,000,000
Onset: 30-50 years
Female : Male 3:1
What is aetiology of systematic sclerosis
Environmental - Silica - Solvents - Viral infections Genetic predisposition - Familial clustering
What the pathogenesis of systematic sclerosis
Very complex and the theory is not certain. Three mechanisms are responsible for the distruption it causes:
- Vascular damage (microcirculation)
- Immune system activation/Inflammation
- Fibrosis
What antibodies are present in systematic sclerosis
Anti centromere antibodies
Anti Scl70 antibodies
What is systematic sclerosis like with Anti centromere antibodies
Slowly progression of skin ivolvmet
Milder form
Very late internal organ involvement
Pulmonary hypertension
Gastrointestinal
What is systematic sclerosis like with Anti Scl70 antibodies
Patients fast progression skin scleoris in weeks of moths
Internal organ involvement fast and early
What are features of systematic sclerosis with Anti Scl70 antibodies
3 FEATURES
Abrupt onset of hypertension
Acute kidney injury with dialysis
Normal urinalysis (maybe mild proteinuria)
- Small bowel bacterial overgrowth
o The fibrosis causes malabsorption and overgrowth
o Bloating, diahhrohea, weight loss (malnutrition)
o Also get water melon stomach.
NEED VERY CAREFUL MONITORING FOR FIRST 5 YEARS AND THEN CAN BE REASSURED AFTER THAT’S OVER
What is Sjogren’s Syndrome
This is an autoimmune condition that affects the exocrine glands. It leads to the symptoms of dry mucous membranes, such as dry mouth, dry eyes and dry vagina
What is Epidemiology of Sjogren’s Syndrome
- Prevalance: 1 in 100
- Incidence: 4 in 100,000
- Onset: 40-50yrs
- Female : Male 9:1
What are antibodies in Sjogrens
Anti Ro (SSA), anti La (SSB) antibodies
What is primary and Secondary Sjogrens
Primary Sjogren’s is where the condition occurs in isolation.
Secondary Sjogren’s is where it occurs related to SLE or rheumatoid art
What is the test for Sjogrens
The Schirmer test involves inserting a folded piece of filter paper under the lower eyelid with a strip hanging out over the eyelid. This is left in for 5 minutes and the distance along the strip hanging out that becomes moist is measured. The tears should travel 15mm in a healthy young adult. A result of less than 10mm is significant.
What a symptoms of Sjogrens
Dry eyes and mouth
Abnormal sense of taste.
Burning or redness in eyes, or grittiness (like sand).
Blurry vision.
Difficulty chewing, swallowing or talking.
1/3 have systematic upset
What is Auto immune myositis
Polymyositis
Dermatomyositis
What is Polymyositis
Polymyositis is a condition of chronic inflammation of muscles.
What is Dermatomyositis
Dermatomyositis is a connective tissue disorder where there is chronic inflammation of the skin (rash) and muscles.
What is the epidemiology of the autoimmune myositis’
Rare: 6/million incidence
More common in females (ratio 3:1)
Peak incidence is in 50– 60 year olds
Increased risk of malignancy
What is the presentation for the autoimmune myositis’
Muscle pain, fatigue and weakness
Occurs bilaterally and typically affects the proximal muscles
Mostly affects the shoulder and pelvic girdle
Develops over weeks
What is investigation for autoimmune myositis
The key investigation for diagnosing myositis is a creatine kinase blood test. Creatine kinase is an enzyme found inside muscle cells. Inflammation in the muscle cells (myositis) leads to the release of creatine kinase. Creatine kinase is usually less than 300 U/L. In polymyositis and dermatomyositis, the result is usually over 1000, often in the multiples of thousands.
What are Dermatomyositis Skin Features
Gottron lesions (scaly erythematous patches) on the knuckles, elbows and knees
Photosensitive erythematous rash on the back, shoulders and neck
Purple rash on the face and eyelids
Periorbital oedema (swelling around the eyes)
Subcutaneous calcinosis (calcium deposits in the subcutaneous tissue)
What is the treatment for autoimmune myositis
Corticosteroids are the first line treatment of both conditions.
