Cmt teaching lab tests ppt

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Cmt teaching lab tests ppt

  1. 1. The use of Immunology tests in clinical practice Dr Charu Chopra SpR Immunology 30th June 2010
  2. 2. Learning Objectives 5 clinical case histories, with lab test data. MRCP part 2 style format questions Complement Acute antibodies Cryoglobulins Anti-nuclear antibodies Immunoglobulins
  3. 3. Q1. A 19 year old man presents to A&E with swelling of his lips and tongue. He is quite anxious and short of breath. You establish that his saturations are 100% on 20% oxygen and there is no stridor. His blood pressure is 120/85 mmHg. He was given a single dose of 10 mg iv chlorpheniramine and im adrenaline (0.5mg) by the paramedics. There is no skin rash. His father died many years ago after a sudden collapse.
  4. 4. What one diagnostic test would you perform? A) Total immunoglobulins B) Serum IgE levels C) Mast cell tryptase D) C1 inhibitor level and function E) C3 and C4 levels What is the diagnosis?
  5. 5. Answer: D
  6. 6. Hereditary Angioedema (HAE) Prev 1 in 50,000 (USA) Recurrent well circumscribed swellings affecting skin, intestine and airway NO urticaria Mortality 20-30% in the past Autosomal Dominant; C1 inh gene chromosome 11 Tests: C1 inhibitor level and function
  7. 7. Pathophysiology
  8. 8. Treatment C1 inhibitor concentrate (20 units/ kg) iv over approx 30 mins Adrenaline/ anti-histamines do NOT work
  9. 9. Fig 1 Immunofluorescence with patient serum applied to Ethanol fixed neutrophils Q2. A 55 year old Caucasian man presents with haemoptysis, shortness of breath and malaise. He is a non smoker and has had these symptoms for 4 months during which he has lost 6kg in weight. What does the slide demonstrate? A) Anti-nuclear antibodies B) Anti-GBM antibodies C) Macrophage Activation Syndrome D) C-ANCA positivity E) None of the above
  10. 10. Answer: D What is the diagnosis? What further test would you do?
  11. 11. Q3 A 47 year old man (previous IVDU) presents with a 2 year history of joint pains, purpuric rash and Raynaud’s phenomenon. His urine dipstick is positive for protein + and blood ++. What test would be most likely to yield a diagnosis? A) Complement levels B) Immunoglobulins C) Liver/kidney autoantibodies D) Anti-nuclear antibody E) Cryoglobulins
  12. 12. Answer: E What further tests would you do? Answer: Viral hepatitis serology, rheumatoid factor, C3/C4
  13. 13. Cryoglobulinaemia Presence in the serum of one (monoclonal) or more (mixed cryoglobulinaemia) immunoglobulins which precipitate at temperatures< 37 C and redissolve on warming Symptoms: Skin Joints Kidneys hyperviscosity Igs deposition / complement activation/ vasculitis
  14. 14. Cryoglobulins Type 1 monoclonal immunoglobulin: Haematological malignancies (CLL, CML, NHL, MM, Hodgkin’s, Waldenstrom’s) Type 2 (mixed) monoclonal and polyclonal components. Rheumatoid factor + Type 3 (mixed) polyclonal immunmoglobulins. Rheumatoid factor + Type2/3 : HIV, Hep C/B, Sjogren’s, SLE, PAN, Scleroderma, Anti phospholipid syndrome, Familial
  15. 15. Fig 2 Immunofluorescence with patient serum applied to Hep 2 cells Q4 What does this image show? What conditions are associated with this serological profile? A) SLE B) Drug induced Lupus C) Rheumatoid arthritis D) Infection E) All of the above
  16. 16. Answer : E
  17. 17. Fig 3 Immunofluorescence to detect ds DNA antibodies (Crithidia luciliae kinetoplast) ds DNA antibodies highly specific for SLE
  18. 18. Q5. A 48 year old lady presents in outpatients clinic with a history of chronic shortness of breath, daily cough productive of pale coloured phlegm and recurrent chest infections. There is no history of haemoptysis. She has had 3 episodes of pneumonia over the last 2 years, requiring hospital admission. Sputum cultures from these grew Streptococcus pneumoniae on one occasion and Haemophilus influenzae on another. An HRCT scan of her chest showed bilateral diffuse bronchiectasis with evidence of a few granulomata in both lung fields. She is a non-smoker. There is no other significant medical history
  19. 19. Bloods: IgG 3.5 g/L (6-16) IgA 0.2 g/L (0.8-2) IgM <0.17 g/L (0.5-2) No paraprotein detected Which diagnosis would be in keeping with these clinical and laboratory findings? A) Tuberculosis B) Sarcoidosis C) Chronic Granulomatous Disease D) X-linked Agammaglobulinaemia E) None of the above
  20. 20. Answer: E (None of the above)
  21. 21. The differential diagnosis of panhypogammaglobulinaemia Lymphoproliferative Disease: check urine BJP, serum EL (? paraprotein), serum free light chains, LDH/beta-2-microglobulin, Ca profile, ? bone marrow biopsy Drugs: steroids, cyclophosphamide, gold salts/ DMARDs, anti-epileptics Protein losing states (enteropathy, nephrotic syndrome) - but usually just low IgG Hypercatabolism of Igs in sepsis Common Variable Immune Deficiency (CVID) Rare: genetic causes (Trisomy 8, Trisomy 21, metabolic disease, myotonic dystrophy, other PIDs) Rare: Congenital infections (congenital Rubella/CMV/Toxo/EBV)
  22. 22. The immunoglobulins are repeated and are found to be accurate values. The patient has mild splenomegaly on examination. How do you explain this patient’s signs and symptoms?
  23. 23. CVID Other clinical manifestations: hepatospelnomegaly, granulomatous disease, anaemia, diarrhoea (? giardiasis), arthralgia (?mycoplasma septic arthritis), bowel changes (villous atrophy) Autoimmune thyroidits, AIHA, AI thrombocytopenia Treatment: vigilance and treatment of infx immunoglobulin replacement therapy Prognosis: pretty good! Surveillance for tumours (lymphoma and gastric ca) Ref: Park et al., Lancet 2008; 372: 489-502
  24. 24. Common Variable Immune Deficiency (CVID) Form of Primary Antibody Deficiency, heterogeneous group of disorders Prevalence: variable 1 in 50,000 Age:bimodal: mid childhood early adulthood Recurrent sinopulmonary infections, bronchiectasis Genetics: No clear inheritence, ICOS, CD19, BAFFR and TACI mutations linked to only 10% cases
  25. 25. Summary of learning objectives Understanding of the use and interpretation of certain tests with reference to relevant clinical conditions Immunoglobulins Complement Acute antibodies / C-ANCA Cryoglobulins Anti-nuclear antibodies
  26. 26. Thankyou

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