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 patients 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

Age, gender, race

Knowledge of disease presentation

Which diseases present with cough, which with fever, acute versus chronic symptoms, etc. Is the patient hypertensive? Tachycardic? Febrile?

Ability to recognize abnormal vital signs

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

Occams 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 patients 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
infection trauma

Fever
autoimmune infection

Headache
vascular exposure

Fatigue
nutrition metabolic

congenital
exposure meds/drugs neoplasm neurologic psychogenic

inflammation
endocrine neoplasm meds/drugs metabolic exposure

neoplasm
neurologic psychogenic infection meds/drugs trauma

infection
endocrine meds/drugs exposure neoplasm 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

upper respiratory infection, sinusitis, EBV

EXPOSURE

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 patients 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

Nearly impossible in our patient? Not necessary to consider it from the outset regardless of lethality.

The diagnosis can be eliminated by additional history, physical examination, or non-invasive testing

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 patients 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 patients clinical course or response to therapy may allow time for the disease to declare itself

Dont 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 patients 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 patients 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 H&P

FOLLOW-UP

DIAGNOSIS

TREATMENT