- Discuss Type I diabetes Mellitus under: Predisposition, Laboratory features
- Genetics: HLA-DR3/DR4, CTLA-4, PTPN22, VNTRs insulin promoter gen, Mutation CD25 (IL-2R)
- Labs
- Fasting Glucose: >7.0 mmol per L on 2 occasions
- 75g 2h OGTT: ≥ 11.1 mmol per L
- RBS: ≥ 11.1 mmol/L with symptoms
- HbA1C: ≥ 6.5% (More for prognosis)
- C-peptide: Decreased
- Serology
- Anti-Islet cell positive
- Anti GAD positive
- Anti insulin positive
- Genetic studies
- Discuss Addison’s disease under: Predisposition, Laboratory features
- Predisposition: HLA-DRB1, HLA-DR3/DR4, CTLA-4, PTPN22, Autoimmune Polyendocrine syndrome
- Labs
- Hyponatremia, Hyperkalemia, Hypercalcemia
- Normal anion gap metabolic acidosis
- Hypoglycemia
- Azotemia: Elevated creatinine and BUN
- Studies
- Morning cortisol: Decreased
- Morning ACTH: Elevated in primary, decreased in secondary or tertiary,
- Cosyntropin stimulation test: failed response in primary, rise in cortisol in secondary
- Outline the laboratory features of Autoimmune Premature Ovarian Failure
- FSH – Elevated, in menopausal range
- Estradiol – Decreased
- TFTs (TSH) – Normal
- Prolactin – Normal
- List the types of Autoimmune Polyglandular Syndrome and the associated conditions
- Type 1 (Autosomal Recessive, Whitaker syndrome): Hypoparathyroidism, Adrenal Insufficiency, Hypogonadism
- Type 2 (Autosomal Dominant, Schmidt syndrome): Adrenal insufficiency, Hashimoto thyroiditis, T1DM
- Briefly describe Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX)
- X-linked inheritance, Mutation in FOXP3, Autoimmunity, TIDM, Eczema, Diarrhea
- Labs
- Genetics: Mutated FOXP2
- Flow: rediced or absent CD4*, CD25+ Treg with otherwise normal cell populations
- Discuss the pathogenesis of Systemic Lupus Erythematosus (SLE)
- Autoantibody development
- Deficiency classic complement proteins C1q, C4, C3
- Failure of macrophages to phagocytose immune complexes and apoptotic cell materials (plasma and nuclear antigens)
- Dysregulated intolerant lymphocytes targeting normally hidden intracellular antigens
- Autoantibody production (ANA, anti-dsDNA)
- Type III hypersensitivity
- Antigen-antibody complex formation in microvasculature
- Complement activation and inflammation
- Damage to skin, kidney, joints and small vessels
- Type II hypersensitivity
- IgM and IgG autoantibodies against red cells, platelets and leukocytes
- Hemolytic anemia, thrombocytopenia, neutropenia, lymphopenia
- Autoantibody development
- Outline the laboratory features of SLE
- ANA positive
- Anti-dsDNA positive
- Anti-smith antibodies positive
- Antiphospholipid antibody positive
- Laboratory markers of disease activity and organ damage
- Decreased CH50, C3, C4
- DAT positive
- Elevated ESR and CRP
- Describe the classification of Lupus Nephritis
- Type I: No renal involvement
- Type II: Mesangial form; Mesangial proliferation, Proteinuria and hematuria
- Type III: Focal proliferative form
- Type IV: Diffuse proliferative form- subendothelial antigen antibody complex, Gross thickening of Basmenet membrane (Wire-loop)
- Type V: Membranous Glomerulopathy
- Outline the laboratory features of Rheumatoid arthritis (RA)
- Rheumatoid Factor
- Anti-CCP positive
- ANA positive
- Elevated ESR and CRP
- CBC: Anemia of chronic disease, thrombocytosis
- Outline the distinguishing features between RA vs Osteoarthritis vs Psoriartic arthritis vs Gout vs Pseudogout vs Reactive arthritis
- Osteoarthritis: Bouchard and Heberden nodes, Spares wrist and MCP
- Psoriartic arthritis: Psoriartic skin lesions, Dactylitis, Enthesitis
- Gout: Tophi, Podagra
- Pseudogout: Usually a monoarthritis
- Reactive arthritis: After UTI or GI infection
