Difficult Diagnosis V2
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This document presents the case of a 65-year-old male who presented with fever, skin lesions, headache, and abdominal pain. He had a 4-year history of intermittent fever, joint pain, skin nodules, cough, eye redness, testicle pain, loss of appetite, and weight loss. Extensive testing revealed elevated inflammatory markers, skin biopsy showing vasculitis, and other nonspecific findings. The document outlines diagnostic approaches including pattern recognition, ruling out serious conditions, and generating hypotheses from the history and exam. The final diagnosis was not revealed.
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Difficult Diagnosis V2
- 1. Difficult-to-Diagnose: A Well-tried Approach! THE SUBHEADING GOES HERE
- 2. Case Scenario Presenting complaints A 65 year old Caucasian male was admitted acutely complaining of generally feeling unwell with fever, painful skin swellings over his arms and legs, headache and epigastric pains.
- 3. Past History He had a complex 4 years history when he presented with intermittent fever and chills, arthralgia of large joints, painful skin nodules of arms and legs, dry cough, shortness of breath, redness of his right eye, painful right testicle, anorexia and weight loss of two months duration.
- 4. Past History He denied oral or genital ulcers. Over the ensuing two months he was extensively investigated to define the underlying disease.
- 5. Investigations Complete blood count: Hemoglobin 106 gram per litre, Mean corpuscular volume (MCV) 97.5, (ESR)134mm/Hr, C-reactive protein (CRP)135mg/dl (N lessthan3.5).
- 6. Investigations Normal total white blood cell (WBC) count and differential. Rouleoux, oval macrocytes. Pseudo Pelger- Huet cells and occasional myelocytes on film. Platelet and reticulocyte counts were normal.
- 7. Liver function test: Gamma-glutamyl transferase 172 (7–64iu/l), Alkaline phosphatase 399(42–121iu/l), Albumin 16 (32–55 iu/l), Bilirubin and alanine aminotransferase normal.
- 8. Chemistry Urea 10.2 (3–6 mmol/l), creatinine137 (53–115 umol/l). Normal sodium and potassium. Immunoglobulin (IG) G level was raised (polyclonal) 19.1(8–18gm/l). Normal IgM, IgA and IgE levels.
- 9. Radiological tests Chest X-ray: Bilateral patchy basal consolidation and mild bilateral pleural effusions which were confirmed on computerized tomographic scans. Ultrasound scan of scrotal sac showed changes consistent with epididymo-orchitis. CT scan of the abdomen: normal.
- 10. Serological tests The following serological tests were done and found to be negative: Hepatitis B & C screen, HIV test, anti-nuclear antibodies, anti-DNA antibodies, rheumatoid factor, anti-cytoplasmic antibodies, anti-cardiolipin antibodies, Coomb's test, ASO titre, cryoglobulins, Brucella serology, complement levels, C1-esterase level.
- 11. Other tests Other negative tests done for a possible infective agent: Malaria film, Brucella culture, Mantoux test, sputa for acid fast bacilli, leprosy nasal smears, urine microscopy.
- 12. Skin biopsies Two skin biopsies were taken: Sample1: Summary of findings: Picture of panniculitis with vasculitis. Sample 2: Summary of findings: Picture consistent with leucocytoclastic vasculitis.
- 13. What is the Diagnosis?
- 14. Other biopsies Found to be negative/normal were: Bilateral temporal artery biopsies Conjuctival biopsy Liver biopsy Bronchoscopy and bronchoscopic samples Bone marrow aspirate/biopsy: Unsuccessful initial attempt. Patient declined a repeat.
- 16. Use Bed-side Diagnosis Schemes: PR, 3Rs, HD, ST 1. Pattern-recognition PR: Spot Diagnosis/ Syndromic 2. “Rules of Thumb”: Smart Heuristics 3. Rule-Out Worst Scenario ROWS 4. Red Flags (symptoms or signs of more serious pathology-usually after diagnosis is made) etc 5. Hypothetico-deductive HD Strategies (from H&P) 6. Scoring Tools: Well’s, CAGE etc.
- 17. Hypothetico-deductive HD Strategies Detailed history Clues from all components of the history Comprehensive physical examination May need to revert to investigations if no diagnosis is clear.
- 18. Hypothetico-deductive HD Strategies Qualifying Statements Frugal Pre-test Probability Assessment: The AP Scheme 1. Absent Alternative: No alternative plausible bed-side Diagnosis: Yes/No 2. Presence of Strong Risk factor for the condition: Yes/No Interpretation: High Probability (2 YES) or Intermediate Probability(1 YES 1 NO) or Low Probability (2 (both) NO)
- 19. Extras: Qualifying statements Experienced clinicians often group the findings into meaningful clusters: Qualifying Statements Hypothetico-deductive Strategies (from H&P)Item Qualifying Statement Time Frame Acute/Chronic e.g. Acute Onset Body Site Anatomic Location e.g. Abdominal pain, generalized swelling, generalized itching etc. Associated Discriminating Symptoms Painless Jaundice One Organ -System/Multisystem Local versus Systemic disease
- 20. Extras: Qualifying statements Experienced clinicians often group the findings into meaningful clusters: Qualifying Statements Hypothetico-deductive Strategies (from H&P)Item Qualifying Statement Epidemiological Clues Race, Geography, Social Habits etc. Specific Laboratory, Radiologic, histologic, Serologic Clue Positive highly specific result etc. Known Complication/Association Auto-immune Diseases etc.
- 21. What is the Diagnosis?
- 22. Next Steps: Diagnostic Paths 1. Redo H & P 2. Read a list of Differential Diagnosis in a textbook 3. 2nd Opinion: Consult a Colleague 4. Present in a Clinical Meeting 5. PubMed Search: Literature Review of similar clinical cases 6. Therapeutic trial
- 23. Further Steps
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