Autoimmune rheumatological disorders

Question 1

Examples

Answer 1

• Systemic Lupus Erythematosus
• Antiphospholipid syndrome
• Sjogrens syndrome
• Polymyositis (and dermatomyositis)

Question 2

Describe Systemic Lupus Erythematosus

Answer 2

An inflammatory, hetergenous, multisystem autoimmune disorder with antinuclear antibodies as wells as arthralgia and rashes
as the most common clinical features, and cerebral and renal disease as the
most serious problems.

Question 3

Clinical presentation of Systemic Lupus Erythematosus

Answer 3

General:
Fatigue, Photo-sensitive rash, malaise, fever, splenomegaly, lymphadenopathy, pleuritic chest pain, headache, Raynaud’s. mild hair loss myalgia
*Erythema in a Butterfly distribution on the cheeks of the face and across the bridge of the nose
*Arthralgia: (like RA)
Symmetrical joint and muscle pain
Mucocutaneous:
Discoid lupus, potosensitive rash, *butterfly rash
Pulmonary:
Pleurisy, Fibrosing alveolitis, obliterative bronchiolitis
CVS:
Pericarditis, hypertension
Renal:
Nephritis, Haematuria, *glomerulonephritis
Neuro:
Anxiety and depression

Question 4

Pathophysiology of Systemic Lupus Erythematosus

Answer 4

Apoptotic cells and cell fragments are cleared inefficiently by phagocytes

• > transfer to lymphoid tissue
• > taken up by antigen presenting cells
• > self-antigens including nuclear components are presented to T cells
• > T cells stimulate B cells to produce autoantibodies against the antigens.

Clinical manifestations are mediated by antibody formation and the development and deposition of immune complexes, complement activation and influx of neutrophils and abnormal cytokine production.

Question 5

Aetiology of Systemic Lupus Erythematosus

Answer 5

Unknown
Likely multifactorial
Strong genetic association (HLA genes have been linked or family hx)
UV light (onset of rash)
Epstein-Barr virus can also trigger SLE
Higher incidence premenopausal (oestrogen has an effect)

Question 6

Epidemiology of Systemic Lupus Erythematosus

Answer 6

More common in premenopausal females
Peak age of onset between 20-40 years (typically child bearing age)
More common in Asians and African-Caribbeans

Question 7

Diagnostic tests of Systemic Lupus Erythematosus

Answer 7

FBC
ESR
Antinuclear factor

Question 8

Treatment of Systemic Lupus Erythematosus

Answer 8

Avoid sunlight and smoking
NSAIDs and corticosteroid for arthralgia
Immunosuppressives for severe symptoms
Rituximab

Question 9

Complications of Systemic Lupus Erythematosus

Answer 9

Depends on organ involvement

Characterised by relapse and remission

Question 10

Describe Antiphospholipid syndrome

Answer 10

Autoimmune disorder characterised by arterial and venous thrmobosis and raised levels of antiphospholipid antibodies

Question 11

Clinical presentation of Antiphospholipid syndrome

Answer 11

Varied clinical features
Coagulation problems;
Livedo reticularis;
Obstetric problems;
Thrombocytopenia

Also Peripheral artery thrombosis, deep venous thrombosis, cerebrovascular disease, pregnancy loss, MI, retinal thrombosis, pulmonary embolism and pulmonary hypertension

Question 12

Pathophysiology of Antiphospholipid syndrome

Answer 12

Proposed mechanisms for hypercoagulable effect of aPL-antibodies include complement activation, the production of antibodies against coagulation factors, activation of platelets, activation of vascular endothelium and a reaction of antibodies to oxidised low density lipoprotein

Question 13

Aetiology of Antiphospholipid syndrome

Answer 13

Unknown - some genetic association

Question 14

Epidemiology of Antiphospholipid syndrome

Answer 14

Higher prevalence in black people

Occurs most commly in women of fertile age

Question 15

Diagnostic test of Antiphospholipid syndrome

Answer 15

Screen for aPL antibodies

Question 16

Treatment of Antiphospholipid syndrome

Answer 16

Healthy lifestyle

Acute management of thrombosis - Heparin

Question 17

Complications of Antiphospholipid syndrome

Answer 17

Stroke

MI

Question 18

What is Sjogrens syndrome

Answer 18

Lymphocytic infiltration of exocrine glands

Question 19

Sjogrens syndrome clinical presentation

Answer 19

Dry eyes
Dry mouth
Enlargement of parathyroid glands
Possibly blepharitis

Question 20

Sjogrens syndrome pathophysiology

Answer 20

Not fully known

Possibly inflammation of the glands prompts AI response

Question 21

Sjogrens syndrome aetiology

Answer 21

Primary - idiopathic

Secondary - associated with another AI condition, often rheumatoid arthritis

Question 22

Sjogrens syndrome epidemiology

Answer 22

Classically disease of middle aged women

Question 23

Sjogrens syndrome diagnostic tests

Answer 23

Serum antibodies

Schirmer’s test - whether the eye can self hydrate

Question 24

Treatment of Sjogrens syndrome

Answer 24

Artificial tear and saliva replacement

Question 25

Sjogrens syndrome complications

Answer 25

Infection of eyes or mouth

Question 26

What is polymyositis

Answer 26

Inflammation and necrosis of skeletal muscle fibres

Question 27

Clinical presentation of polymyositis

Answer 27

Symmetrical progressive muscle weakness and wasting, affecting the proximal muscles of the shoulder and pelvic girdle. Difficulty squatting and with stairs, and with raising hands above head. Can involve dysphagia and dysphonia if pharyngeal and laryngeal muscles are involved.

Question 28

Pathophysiology of molymyositis

Answer 28

Mediated by cytotoxic T cells | Involves autoimmune factors

Question 29

Aetiology of polymyositis

Answer 29

Unknown

Question 30

Epidemiology of polymyositis

Answer 30

Presents between 30 and 60 (small peak at 15) | Twice as common in females

Question 31

Diagnostic tests of polymyositis

Answer 31

Muscle biopsy

Question 32

Treatment of polymyositis

Answer 32

Oral prednisolone

Question 33

Complications of polymyositis

Answer 33

Interstital lung disease, dysphagia, infection

Question 34

``` Woman 23 years old presents with mouth ulcers, fever, painful white fingers (Raynaud's) and pleuritic chest pain. ANA positive ESR raised and white cell count low Which of these features would you NOT expect to be associated with her illness? Deforming arthritis Photosensitive rash Seizures Pulmonary embolism Thrombocytosis ```

Answer 34

Thrombocytosis | Case of SLE