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Differential Diagnosis The cornerstone of Western medicine Initial thoughts. . . Each question asked during the patient interview reflects a sign, symptom, or risk factor for a disease that we feel may explain the patient’s presentation. Differential diagnosis directs our patient encounter from the very beginning. Static Process Patient encounter History Physical Differential Diagnosis Diagnostic testing Final diagnosis Dynamic Process HISTORY PHYSICAL DIFFERENTIAL Where do we begin? Use available information Age Gender Chief complaint Vital Signs Chart Review (as applicable) Thought process. . . Epidemiology, Chief complaint, Vital signs Differential diagnosis Focused history and physical Problem List Refine differential diagnosis Final diagnosis Further history or physical Diagnostic testing Studying is important! Understanding of epidemiology Knowledge of disease presentation Age, gender, race Which diseases present with cough, which with fever, acute versus chronic symptoms, etc. Ability to recognize abnormal vital signs Is the patient hypertensive? Tachycardic? Febrile? Diagnosis may be made simply. . . Or not so simply. . . Formal Differential Not needed: Classic presentation of common disease Risk of acute mortality Needed: Atypical disease presentation Examination or testing does not confirm suspected diagnosis Multiple signs and symptoms with no obvious connection When you hear hoof beats. . . think horses Occam’s Razor A principle attributed to the 14th century logistician and Franciscan friar, William of Ockham “Pluralitas non est ponenda sine neccesitate” Plurality (numerous ideas) should not be posited (considered) without necessity That is. . . Keep it SIMPLE!! Intuitive Postulates Consider each sign or symptom individually Generate a separate differential for each of the patient’s issues Compare the problem-specific differentials Include diagnoses that appear frequently Those which explain all pertinent positive findings. Exclude diagnoses that appear infrequently Diagnoses that do not explain a majority of findings are unlikely candidates. O/W healthy patient with. . . “cough, fever, headache, tired” Cough Fever Headache Fatigue infection autoimmune vascular nutrition trauma infection exposure metabolic congenital inflammation neoplasm infection exposure endocrine neurologic endocrine meds/drugs neoplasm psychogenic meds/drugs neoplasm meds/drugs infection exposure neurologic metabolic meds/drugs neoplasm psychogenic exposure trauma autoimmune How to proceed. . . Infection, neoplasm, meds/drugs, and exposure are the most likely categories Neoplasm, trauma, meds/drugs can be ruled-out convincingly by further history alone Exposure may be difficult – is the patient aware? DIRECT questioning – specific possibilities Proceeding. . . After ranking categories – begin to think about specific diagnoses In this case – infection is most probable List out specific infectious etiologies INFECTION Infectious Mononucleosis (Epstein Barr - EBV) Upper respiratory infection (rhinovirus, paramyxovirus, etc.) Sinusitis Measles Varicella Pneumonia Bronchitis Making the diagnosis Using epidemiological data, history, and physical we attempt to discover the correct diagnosis If our working diagnosis proves inadequate, we return to the differential and start anew Streamlined Process Utilizing this more fluid thought process, as each category is considered, specific diagnoses are postulated simultaneously As you develop the differential, more than one diagnosis may be plausible In this case the final differential is comprised of the top possibilities in each of medical category As illustrated here INFECTION EXPOSURE upper respiratory infection, sinusitis, EBV insecticides, petroleum based chemicals or fumes MEDICATION/DRUGS inhalant abuse, medication overdose (aspirin) Epidemiology The study of disease in a specific population Disease prevalence varies tremendously in different patient populations Students should become familiar with age, gender, and race-related disease risk In clinical study, understanding disease-specific epidemiology is equally important to knowledge of diagnosis and treatment Epidemiology is essential Sinusitis remains the most probable diagnosis in lieu of any further information Young child who had not received standard immunizations consider other infectious etiologies such as varicella or measles, along with sinusitis If this same young child had a history of exposure to someone with either of these illnesses, consideration of these diagnoses would be moved ahead of sinusitis altogether Epidemiology is essential Furthermore, the likelihood of pulmonary malignancy in a child would be infinitesimally small 16-year-old male who had recently spent numerous sleepless nights studying for final examinations, we would strongly consider EBV infection A 65 year old male with a life-long history of construction work involving asbestos, then asbestosis or pulmonary malignancy might be considered before sinusitis or EBV Developing a Thorough Differential First review categories or areas of medicine Once you had identified categories that are plausible, then proceed to specific diagnoses within those categories This ensures that you consider ALL possible areas of medicine and do not just focus on the most common VINDICATES Vascular Infectious, Inflammatory Neoplastic Drugs Iatrogenic, Idiopathic/psychogenic Congenital Autoimmune (allergic) Trauma Endocrine (metabolic/nutrition), Exposure Systems Rank-listing the differential Ranking of differential makes the list of diagnoses more useful Assuming that the diagnoses considered adequately explain the patient’s symptoms, the final order is based on two concepts – Most common/most likely diagnosis Diseases that are associated with high mortality or morbidity But what do we do with the zebras? Move uncommon disorders higher? The diagnosis is plausible in our patient The diagnosis can be eliminated by additional history, physical examination, or non-invasive testing Nearly impossible in our patient? Not necessary to consider it from the outset – regardless of lethality. Diagnosis requires invasive study, specialized laboratory eval. or expensive testing? It should remain toward the bottom of our differential list The diagnosis is associated with acute mortality Diagnosis is associated with mortality only after a prolonged period of time? Consideration following further evaluation of more common disorders is advisable Sample case: Adolescent patient with chest pain Common causes include pleurisy, costochondritis, benign overuse myalgia, or anxiety/stress As such, these diagnoses should appear at the top of the differential – with specific historical and physical data influencing the final order Myocardial infarction (MI), while plausible, would be highly unlikely in an otherwise healthy child Therefore, MI would be placed lower on the list of possible etiologies Myocardial infarction? Using the criteria outlined above, eliminating the possibility of MI prior to final diagnosis is a reasonable approach The diagnosis is plausible, is associated with acute mortality, and can be ruled-out with a minimally invasive test Electrocardiogram Enzymes (CKMB/Troponin) are rarely needed in this scenario Teaching Points If the patient’s presentation is consistent with a rare diagnosis, then further evaluation by whatever means necessary is compulsory The point is not to limit our evaluation in order to save money or time – instead, diagnostic evaluation should be driven by clinical indication What is emphasized herein is that you must THINK through the process of deciding which diagnoses are considered first, and which can wait. The doctor as an artist Each disease process does not present in exactly the same way every time. Medicine is more than pure scientific study – it is an art form One cannot simply memorize key facts about a diagnosis and limit consideration of this disease to the fulfillment of all necessary criteria alone An astute physician recognizes the possibility of disease presenting atypically – thereby not explaining every sign or symptom Test of time. . . Having made a final diagnosis, continued observation of the patient will allow us to determine if our suspicion was correct Students should recognize that uncovering the etiology of disease may require time Early on in the course of an individual disease, limited historical data and newly emerging physical findings may make accurate diagnosis difficult Following the patient’s clinical course or response to therapy may allow time for the disease to declare itself Don’t be afraid to RE-THINK If the clinical course or therapeutic response is not consistent with the original diagnosis, then that diagnosis must be questioned For example, if the disease worsens unexpectedly or the patient’s symptoms persist despite adequate medical therapy, the physician must not persist in their presumption that the original diagnosis was correct Western physicians will turn to the medical literature or their colleagues for another opinion Student Intern Resident Staff As they are just beginning their medical training, students have a less exhaustive understanding of disease presentation, and so cannot narrow their history and physical to only the most relevant topics With time and experience the student becomes more adept at the process of obtaining a relevant, focused history, performing a directed physical examination, and the like Student Intern Resident Staff With time, students learn to incorporate a dynamic approach to the differential diagnosis This allows them to reassess diagnostic possibilities throughout the entire process – not just after the basic information has been obtained Dynamic Process This intuitive style of thinking has been ingrained into the minds of Western physicians The process begins at the onset of the patient’s presentation and then drives the entire patient encounter – directing further questioning, examination, and diagnostic testing In cases where clinical course or response to therapy is inconsistent with the original diagnosis, return to the differential leads the physician in a new direction In every sense of the word, differential diagnosis is a dynamic process. Dynamic Process DIFFERENTIAL FOLLOW-UP H&P DIAGNOSIS TREATMENT