The Mirage of Cases
Often in diagnostics, clinicians rely heavily on the patient’s medical history aided by the use of diagnostic tools to start a patient on any kind of relevant therapy. Diagnostics completely rely on the doctor’s ability to make sense out of a case and correlate the pathology behind it to link it with the treatment modalities available. However even doctors, despite being trained for years, are humans who can make errors in diagnostics.
Here is a simulated case which has been diagnosed with all the given facts to be a particular disease. But could it be something else?
Case:
A 24-year-old college student presents with intermittent fever for the 3 months accompanied by sweating at night and fatigue throughout the day. She says that she has lost about 8 kilograms and blames it on her lack of appetite in the hostel mess. She comes with complaints of a mild cough. A chest X- Ray taken showed a few ill-defined infiltrates.
The doctor’s interpretation:
Since tuberculosis has a high prevalence in India and the constitutional symptoms and radiological examination point towards the same, the provisional diagnosis made was pulmonary tuberculosis. The patient was started on an anti tubercular regime with the drugs isoniazid, rifampin, pyrizinamide and ethambutol.
So what went wrong after that?
After 2 months the patient returned to the Medicine OPD with complaints that the fever did not reduce and the weight loss continued despite improving her appetite and taking the medications. She came with new complaints of palpitations and cervical node enlargement. Her sputum was analysed and it repeatedly tested negative for the presence of acid-fast bacilli (Mycobacterium tuberculosis).
The deeper analysis:
The doctor on further evaluation noted bilateral significant cervical lymphadenopathy- firm in consistency, splenomegaly and elevated lactate dehydrogenase levels. An excisional lymph node biopsy was performed which confirmed the presence of Reed-Sternberg cells. Immunohistochemistry indicated CD-15 and CD-30 positivity of the RS cells.
Final diagnosis:
Hodgkin’s Lymphoma
Why was it misdiagnosed?
Anchoring bias - the doctors relied too heavily on the first piece of information and took TB as the most likely cause
Availability bias - the easiest example that came to mind was tuberculosis compared to a rarer diagnosis like Hodgkin’s lymphoma
Premature closure - before fully obtaining the confirmation of the tissue pathological confirmation a diagnosis was made
Errors that could have been avoided:
Had the medical officer conducted a proper general examination, the enlargement of other lymph nodes could have been caught, and the breath sounds could have been analyzed for ruling out tuberculosis as the most likely diagnosis. Biopsies must be taken of suspicious lymph nodes as and when the patient presents and must not be left to just radiological examinations.
Was It Indigestion—or a Heart in Distress?
Patient Presentation
A 58-year-old man presented with severe epigastric burning after dinner. The pain was associated with sweating, nausea, and mild breathlessness. Believing it to be acidity, he self-medicated with antacids. The symptoms persisted despite treatment.
Initial Diagnosis
* Gastritis
* Gastroesophageal reflux disease (GERD)
* Indigestion
Correct Diagnosis
Acute Inferior Wall Myocardial Infarction, confirmed by ECG changes and elevated cardiac biomarkers.
Clues That Were Missed
* Presence of cardiovascular risk factors (hypertension and smoking)
* Associated diaphoresis and breathlessness
* Lack of relief with antacids
* Pain occurring at rest
Learning Points
* Myocardial infarction may present without typical chest pain.
* Epigastric discomfort can be a cardiac symptom.
* ECG should be considered in high-risk patients with unexplained upper abdominal pain.
Discussion on Avoiding Similar Mistakes
Anchoring bias often leads clinicians to attribute epigastric pain to gastrointestinal causes. Maintaining a broad differential diagnosis and considering cardiac evaluation in high-risk individuals can prevent delays in treatment.
Case
The Disease with a Thousand Faces
Patient Presentation
A 22-year-old woman complained of intermittent fever, fatigue, joint pain, and progressive hair loss over six months. She had received multiple courses of antibiotics for presumed infections. Later, she developed oral ulcers and a facial rash that worsened after sun exposure.
Initial Diagnosis
* Viral fever
* Iron deficiency anemia
* Chronic infection
* Stress-related fatigue
Correct Diagnosis
Systemic Lupus Erythematosus, confirmed through autoimmune testing and clinical criteria.
Clues That Were Missed
* Persistent multisystem involvement
* Nonerosive symmetrical joint pain
* Photosensitive rash
* Oral ulcers and alopecia
Learning Points
* SLE should be suspected in young women with unexplained multisystem symptoms.
* Constitutional symptoms may precede classic manifestations.
* Early diagnosis reduces long-term organ damage.
Discussion on Avoiding Similar Mistakes
Repeatedly treating symptoms in isolation can delay recognition of autoimmune disease. Clinicians should periodically reassess the overall clinical picture when symptoms persist despite treatment.
The Cramps That Weren’t Just Cramps
Patient Presentation
A 26-year-old woman presented with lower abdominal pain and mild vaginal bleeding. She believed the symptoms represented her menstrual period and described the pain as similar to dysmenorrhea. She had a history of irregular menstrual cycles and was unaware of her pregnancy.
Initial Diagnosis
* Primary dysmenorrhea
* Pelvic inflammatory disease
* Gastrointestinal colic
Correct Diagnosis
Tubal Ectopic Pregnancy, confirmed by positive pregnancy test and transvaginal ultrasonography.
Clues That Were Missed
* Delayed menstrual period
* Increasing severity of pain
* Unilateral pelvic tenderness
* Reproductive age and possibility of pregnancy
Learning Points
* Pregnancy must be excluded in every reproductive-age woman presenting with abdominal pain.
* Vaginal bleeding does not rule out pregnancy.
* Ectopic pregnancy is a potentially life-threatening emergency.
Discussion on Avoiding Similar Mistakes
Diagnostic assumptions based on a patient’s interpretation of symptoms can be dangerous. A routine pregnancy test should be considered in all reproductive-age women with pelvic pain or abnormal bleeding, regardless of the presumed diagnosis.
