Connective tissue diseases Flashcards
Pathology of CREST syndrome
Formed of systemic sclerosis Calcinosis Raynaud's syndrome Esophageal dysmotility Sclerodactyly Telangiectasia
Causes of CREST syndrome
Chronic autoimmune inflammation triggered by anticentromere antibodies
S+S CREST
Calcific nodules under skin White-blue-red skin colour transitions in cold Dysphagia Sclerodactyly Telangiectasias on hands + face
What are the complications of CREST syndrome?
Ischemic ulcers
Gangrene
Predisposition to skin infections
Upper GI bleeds
Lab results for CREST syndrome
ANA + ACAs present
Management of CREST syndrome
Steroids
Immunosuppressants (cyclosporine)
Pathology of fibromyalgia
Central sensitisation, hypersensitivity to pain, sleep disturbances
Reduced serotonin
Increased substance P
Increased nerve growth factor
S+S of fibromyalgia
Low threshold to pain
Widespread muscle pain
Sleep disturbances
Difficulty concentrating
What are the symptom severity measures for fibromyalgia?
Fatigue, waking unrefreshed, cognitive symptoms, somatic symptoms 0 = no problem 1 = mild 2 = moderate 3 = severe
Diagnostic criteria for fibromyalgia
Pain in >7 areas of body with symptom severity of >5 in >5 areas
Symptoms present > 3 months
Management of fibromyalgia
Antidepressants - TCAs, SNRIs
Anticonvulsants
CBT
Pathology of mixed connective tissue disease
Overlap autoimmune syndrome
SLE, systemic sclerosis, polymyositis
Complications of mixed connective tissue disease
Pulmonary hypertension
Interstitial lung disease
Renal disease
S+S of mixed connective tissue disease
Arthralgias Myalgias Swollen hands + puffy fingers Sclerodactyly Raynauds Fatigue Low grade fever
Lab results for mixed connective tissue disease
High anti-U1 ribonucleoprotein antibodies (anti-U1-RNP)
High ANA, RF
Management of mixed connective tissue disease
Steroids
Pathology of scleroderma
AKA systemic sclerosis
Chronic inflammatory autoimmune disease resulting in damage to small blood vessels, excessive fibrosis
T helper cells activated + release cytokines, stimulate fibroblasts causing chronic inflammation
What organs does scleroderma affect?
Skin GI tract Kidneys Muscles Heart Lungs
Types of scleroderma
Limited - limited to fingers, forearms + face. Associated with anticentromere antibodies, may develop CREST
Diffuse - widespread skin involvement, rapid progression, associated with anti-DNA TI antibodies
RF for scleroderma
Females
35-50
Genetics
Complications of scleroderma
Excessive skin fibrosis - painful ulcers, disfigurement, disability
Renal + cardiac failure
Pulmonary insufficiency
Intestinal malabsorption
S+S of scleroderma
Raynauds (precedes other symptoms)
Cutaneous changes of face + extremities (skin thickening + tightening, sclerosis, edema, erythema)
GI involvement - esophageal fibrosis, abdo pain, obstruction
How is the diagnosis of scleroderma made?
Upper endoscopy (fibrosis)
High ANAs
High ACAs
Anemia
Management of scleroderma
PPIs for reflux
CCB for Raynauds
ACEi for renal hypertension
Immunosuppressant therapy
Pathology of Sjogren’s syndrome
autoimmune inflammatory disease
Lymphocytic infiltration
Destruction of exocrine glands of eyes + mouth
Causes of Sjogren’s syndrome
Sicca syndrome (primary) Secondary (to RA)
S+S of Sjogren’s syndrome
Dry eyes, irritation + itching
Oral dryness
Salivary gland enlargement
MSK symptoms, rashes, vasculitis + interstitial nephritis
Complications of Sjogren’s syndrome
Periodontal complications
Oral infections
MALT lymphoma
Diagnostic tests for Sjogren’s syndrome
Parotid gland MRI shows honeycomb pattern Leukopenia, thrombocytopenia, anemia High ESR ANA + RF high Schirmer test (reflex tear production) Salivary gland tests
Management of Sjogren’s syndrome
Secretagogues
Immunosuppressive therapy
Pathology of SLE
Systemic autoimmune disorder
Periods of flare ups + remittance
Immune complexes deposit in kidneys, skin, joints + heart
Type 3 hypersensitivity reaction
Ab targeting molecules - type 2 hypersensitivity reaction
RF for SLE
Genes UV radiation Smoking Viral + bacterial infections Medications Females 30-50
Complications of SLE
Libman-Sacks endocarditis MI Renal failure HTN Antiphospholipid syndrome - prone to developing clots
S+S of SLE
Fever Joint pain Rash (malar rash over cheeks, discoid rash, general photosensitivity) Ulcers in oral/ nasal mucosa Serositis Myocarditis Renal disorders Seizures + psychosis Anemia, thrombocytopenia, leukopenia
Management of SLE
Animalarial agents
NSAIDs
Corticosteroids
Immunosuppressants
What are the heritable connective tissue disorders?
Marfans Ehlers-Danlos Osteogenesis imperfecta Stickler syndrome Alport syndrome Congenital contractural arachnodactyly Loeys-Dietz syndrome
