Commonly Missed Diseases by Doctors: What to Watch Out For Medical practice is inherently complex, with a wide range of diseases presenting with overlapping symptoms. Despite rigorous training and experience, even the most seasoned doctors can sometimes miss certain diagnoses. These missed diagnoses can lead to delays in treatment, increased patient morbidity, and, in some cases, mortality. Here, we explore some commonly missed diseases, the reasons behind these diagnostic pitfalls, and strategies to enhance diagnostic accuracy. 1. Pulmonary Embolism Overview: Pulmonary embolism (PE) occurs when a blood clot travels to the lungs, obstructing pulmonary arteries. It is a life-threatening condition that requires immediate medical attention. Reasons for Missed Diagnosis: Non-specific Symptoms: Symptoms such as shortness of breath, chest pain, and cough can mimic other conditions like pneumonia or myocardial infarction. Low Index of Suspicion: In patients without classic risk factors (e.g., recent surgery, prolonged immobility), PE may not be considered initially. Key Indicators: Sudden onset of unexplained dyspnea Pleuritic chest pain Tachycardia and hypoxemia without clear cause Enhancing Diagnostic Accuracy: Utilize Wells score and D-dimer testing for risk stratification. Consider imaging studies like CT pulmonary angiography in high-risk patients. Trustworthy sources: www.nejm.org/doi/full/10.1056/NEJMra0907731, www.cdc.gov/ncbddd/dvt/facts.html 2. Subarachnoid Hemorrhage Overview: Subarachnoid hemorrhage (SAH) is bleeding into the subarachnoid space, often due to a ruptured aneurysm. It can present with sudden, severe headache, often described as the "worst headache of my life." Reasons for Missed Diagnosis: Atypical Presentation: Some patients may not have a classic thunderclap headache but present with a more gradual onset of symptoms. Misattribution: Headaches may be misattributed to benign causes like migraines or tension headaches. Key Indicators: Acute, severe headache Nuchal rigidity Photophobia and altered mental status Enhancing Diagnostic Accuracy: Perform a non-contrast head CT scan immediately. Lumbar puncture to check for xanthochromia if CT is negative but suspicion remains high. Trustworthy sources: www.mayoclinic.org/diseases-conditions/subarachnoid-hemorrhage/symptoms-causes/syc-20361009, www.ahajournals.org/doi/full/10.1161/STROKEAHA.113.002689 3. Acute Coronary Syndrome in Women Overview: Acute coronary syndrome (ACS) includes a range of conditions associated with sudden, reduced blood flow to the heart, such as myocardial infarction. Reasons for Missed Diagnosis: Atypical Symptoms: Women are more likely to present with non-classic symptoms like fatigue, nausea, back pain, and shortness of breath. Misinterpretation: Symptoms may be mistaken for gastrointestinal issues or musculoskeletal pain. Key Indicators: Chest discomfort (not always severe or central) Shortness of breath Unexplained fatigue or weakness Enhancing Diagnostic Accuracy: Maintain a high index of suspicion, especially in women with risk factors. Use ECG and cardiac biomarkers like troponin to aid in diagnosis. Trustworthy sources: www.cdc.gov/heartdisease/women.htm, www.heart.org/en/health-topics/heart-attack/warning-signs-of-a-heart-attack 4. Lyme Disease Overview: Lyme disease is a tick-borne illness caused by the bacterium Borrelia burgdorferi. It can present with a wide range of symptoms, making diagnosis challenging. Reasons for Missed Diagnosis: Non-specific Symptoms: Early symptoms like fever, headache, and fatigue can mimic viral infections. Lack of Awareness: In non-endemic areas, Lyme disease may not be considered. Key Indicators: Erythema migrans (bullseye rash) Joint pain and swelling Neurological symptoms in later stages Enhancing Diagnostic Accuracy: Consider travel history and outdoor activities. Use ELISA and Western blot tests for confirmation. Trustworthy sources: www.cdc.gov/lyme/index.html, www.mayoclinic.org/diseases-conditions/lyme-disease/symptoms-causes/syc-20374651 5. Celiac Disease Overview: Celiac disease is an autoimmune disorder where ingestion of gluten leads to damage in the small intestine. Reasons for Missed Diagnosis: Variable Symptoms: Symptoms can range from gastrointestinal issues (diarrhea, bloating) to non-GI symptoms (anemia, fatigue). Misdiagnosis: Often misdiagnosed as irritable bowel syndrome (IBS) or lactose intolerance. Key Indicators: Chronic diarrhea or constipation Iron-deficiency anemia unresponsive to supplements Dermatitis herpetiformis (itchy skin rash) Enhancing Diagnostic Accuracy: Screen with tissue transglutaminase antibodies (tTG-IgA). Confirm with small bowel biopsy. Trustworthy sources: www.celiac.org, www.mayoclinic.org/diseases-conditions/celiac-disease/symptoms-causes/syc-20352220 6. Heart Failure with Preserved Ejection Fraction (HFpEF) Overview: HFpEF, or diastolic heart failure, occurs when the heart muscle contracts normally but the ventricles do not relax as they should during filling. Reasons for Missed Diagnosis: Atypical Presentation: Symptoms like fatigue, dyspnea on exertion, and edema can be attributed to other conditions like chronic lung disease or obesity. Lack of Awareness: HFpEF is less recognized compared to heart failure with reduced ejection fraction (HFrEF). Key Indicators: Normal ejection fraction on echocardiogram Signs of fluid overload (edema, ascites) BNP or NT-proBNP elevation Enhancing Diagnostic Accuracy: Use echocardiography to assess diastolic function. Consider HFpEF in patients with unexplained dyspnea and risk factors like hypertension, diabetes, and obesity. Trustworthy sources: www.heart.org/en/health-topics/heart-failure/what-is-heart-failure/types-of-heart-failure, www.ncbi.nlm.nih.gov/pmc/articles/PMC6111947 7. Multiple Sclerosis Overview: Multiple sclerosis (MS) is a chronic autoimmune disease affecting the central nervous system, leading to a wide range of neurological symptoms. Reasons for Missed Diagnosis: Variable Presentation: Symptoms can be transient and nonspecific, such as fatigue, numbness, and visual disturbances. Misdiagnosis: Often misdiagnosed as stress, anxiety, or other neurological disorders. Key Indicators: Episodes of neurological symptoms (relapsing-remitting pattern) Optic neuritis (painful vision loss) MRI findings of demyelination Enhancing Diagnostic Accuracy: Perform MRI with gadolinium to identify lesions. Use lumbar puncture to detect oligoclonal bands in cerebrospinal fluid. Trustworthy sources: www.nationalmssociety.org/Symptoms-Diagnosis, www.mayoclinic.org/diseases-conditions/multiple-sclerosis/symptoms-causes/syc-20350269 8. Aortic Dissection Overview: Aortic dissection is a serious condition where the inner layer of the aorta tears, allowing blood to flow between the layers of the aortic wall. Reasons for Missed Diagnosis: Atypical Presentation: Symptoms can mimic myocardial infarction or other acute conditions. Low Suspicion: Rare condition often not initially considered. Key Indicators: Sudden onset of severe chest or back pain Pain described as tearing or ripping Pulse differential between limbs Enhancing Diagnostic Accuracy: Perform urgent imaging such as CT angiography, MRI, or transesophageal echocardiography. Maintain a high index of suspicion in patients with risk factors like hypertension and connective tissue disorders. Trustworthy sources: www.mayoclinic.org/diseases-conditions/aortic-dissection/symptoms-causes/syc-20369480, www.ahajournals.org/doi/full/10.1161/CIRCULATIONAHA.114.013353 9. systemic lupus Erythematosus Overview: systemic lupus erythematosus (SLE) is an autoimmune disease that can affect multiple organs, leading to a broad spectrum of symptoms. Reasons for Missed Diagnosis: Non-specific Symptoms: Symptoms like fatigue, joint pain, and rashes can be attributed to other common conditions. Misdiagnosis: Often mistaken for rheumatoid arthritis, fibromyalgia, or viral infections. Key Indicators: Malar rash (butterfly-shaped rash across cheeks and nose) Photosensitivity Positive antinuclear antibody (ANA) test Enhancing Diagnostic Accuracy: Use specific antibodies tests such as anti-dsDNA and anti-Smith. Consider SLE in patients with multi-system involvement and persistent, unexplained symptoms. Trustworthy sources: www.lupus.org/resources/what-is-lupus, www.mayoclinic.org/diseases-conditions/lupus/symptoms-causes/syc-20365789 10. Thyroid Disorders Overview: Thyroid disorders, including hypothyroidism and hyperthyroidism, can present with a variety of symptoms that overlap with other conditions. Reasons for Missed Diagnosis: Subtle Symptoms: Symptoms like fatigue, weight changes, and mood disturbances can be subtle and develop gradually. Misattribution: Often misattributed to aging, depression, or other common conditions. Key Indicators: Hypothyroidism: Weight gain, cold intolerance, bradycardia, dry skin. Hyperthyroidism: Weight loss, heat intolerance, tachycardia, tremors. Enhancing Diagnostic Accuracy: Use thyroid function tests (TSH, free T4) to screen and confirm diagnosis. Maintain awareness of thyroid disorders in patients with unexplained systemic symptoms. Trustworthy sources: www.thyroid.org, www.mayoclinic.org/diseases-conditions/hypothyroidism/symptoms-causes/syc-20350284 11. Sepsis Overview: Sepsis is a life-threatening condition that arises when the body's response to infection causes injury to its own tissues and organs. Reasons for Missed Diagnosis: Non-specific Symptoms: Symptoms like fever, chills, rapid breathing, and confusion can mimic other conditions. Low Index of Suspicion: In patients without apparent infection, sepsis might not be considered. Key Indicators: Fever or hypothermia Tachycardia and tachypnea Altered mental status Enhancing Diagnostic Accuracy: Utilize the Sepsis-3 criteria, including SOFA score. Early blood cultures and broad-spectrum antibiotics. Trustworthy sources: www.sepsis.org, www.cdc.gov/sepsis/what-is-sepsis.html 12. Ectopic Pregnancy Overview: Ectopic pregnancy occurs when a fertilized egg implants outside the uterine cavity, most commonly in the fallopian tubes. Reasons for Missed Diagnosis: Atypical Presentation: Symptoms like abdominal pain and vaginal bleeding can mimic other gynecological or gastrointestinal conditions. Delayed Recognition: In women not known to be pregnant, ectopic pregnancy may not be considered. Key Indicators: Unilateral pelvic pain Vaginal bleeding or spotting Positive pregnancy test with no intrauterine pregnancy on ultrasound Enhancing Diagnostic Accuracy: Perform transvaginal ultrasound and serial beta-hCG measurements. Maintain a high index of suspicion in women of childbearing age with abdominal pain. Trustworthy sources: www.acog.org/clinical/clinical-guidance/practice-bulletin/articles/2018/06/ectopic-pregnancy, www.mayoclinic.org/diseases-conditions/ectopic-pregnancy/symptoms-causes/syc-20372088 13. Endometriosis Overview: Endometriosis is a condition where tissue similar to the lining inside the uterus grows outside the uterus, causing pain and infertility. Reasons for Missed Diagnosis: Chronic and Cyclic Symptoms: Symptoms like dysmenorrhea, pelvic pain, and dyspareunia can be mistaken for normal menstrual pain. Delayed Diagnosis: It often takes years from symptom onset to diagnosis due to the normalization of menstrual pain. Key Indicators: Chronic pelvic pain Painful periods (dysmenorrhea) Infertility Enhancing Diagnostic Accuracy: Consider laparoscopy for definitive diagnosis. Use pelvic ultrasound and MRI for initial assessment. Trustworthy sources: www.endofound.org/endometriosis, www.mayoclinic.org/diseases-conditions/endometriosis/symptoms-causes/syc-20354656 14. Chronic Kidney Disease Overview: Chronic kidney disease (CKD) is a long-term condition where the kidneys do not function properly, leading to a buildup of waste products in the blood. Reasons for Missed Diagnosis: Gradual Onset: Symptoms like fatigue, fluid retention, and changes in urine output can develop slowly and be attributed to other conditions. Lack of Screening: CKD is often asymptomatic in early stages, leading to underdiagnosis. Key Indicators: Elevated serum creatinine and BUN levels Proteinuria or hematuria Hypertension and anemia Enhancing Diagnostic Accuracy: Regular screening in at-risk populations (diabetes, hypertension). Use estimated glomerular filtration rate (eGFR) for assessment. Trustworthy sources: www.kidney.org/atoz/content/about-chronic-kidney-disease, www.mayoclinic.org/diseases-conditions/chronic-kidney-disease/symptoms-causes/syc-20354521 Conclusion Missed diagnoses can have serious consequences for patients. Enhancing diagnostic accuracy involves maintaining a high index of suspicion, using appropriate diagnostic tools, and being aware of atypical presentations. Continuous education and awareness can help healthcare professionals reduce the risk of missing these critical conditions.
