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Altered Physiology in Autoinflammatory Syndromes involving PSTPIP and…
Altered Physiology in Autoinflammatory Syndromes involving PSTPIP and TNFRSF1A mutations
Genetic Mutation
Inherited; autosomal dominant
genetic screening/testing important
Spontaneous, no known fam HX
PSTPIP1 gene
PAPA Syndrome
Compromised cell signaling
Excess cytokine, pyrin production
Fever, inflammation
Edema
Pressure injury
Systemic inflammation
vasculitis
Altered perfusion & diffusion
Ischemic injury
Uveitis
Corticosteroid eye drops
Decrease leukotrienes + prostaglandins
Suppress vasodilation
Restore normal capillary permeability
Cycloplegic RX
Decrease pain
medical emergency
Risk of bindness
Pleurisy
Visceral pain
Altered ventilation
Surgical or pharmacologic TX
TNFRSF1A gene
TNF-Receptor Associated Periodic Syndrome
Mutations associated w/unnamed
syndromes due to rare incidence
Altered Immune Function
Overactive innate immune system
Prostaglandin production
Biologic or chemotherapeutic RX
Methotrexate
Cyclosporine
TNF-inhibitors
Increased ESR, CRP, WBC
Inflammasome
Cytokine excess/cascade
Chronic, cyclic fever
Fatigue
Rash
Inflammation
Visceral & somatic pain
Chronic synovitis
erosion
altered mobility
Pyroptosis
Excess IL-1
IL-1 receptor antagonists e.g., Kineret
Secondary Immune Function alteration
Immunocompromised
Higher susceptibility to infectious agents
Impaired Circulation & Altered Perfusion
Chronic systemic inflammation
Cardiovascular disease risk
Atherosclerosis
Myocardial infarction
Hypoxia, ischemia
Obesity
Further inflammation
Increased CRP & ESR
Impaired mobility
Pericarditis
Altered cardiac output
impaired ventricular filling
Decreased stroke volume
Cardiac tamponade
Colchicine
Friction rub
Pain in left shoulder, neck, chest
Fatigue
Recurrent or chronic
Altered Metabolic/Endocrine Function
Exogenous glucocorticoids
Cushing's Syndrome
Obesity
Emotional changes
"Moon face"
Immune suppression
Prednisone
Increased blood glucose
risk of corticosteroid-related diabetes
Decrease capillary permeability
Inhibit edema