Differential diagnosis

In healthcare, a differential diagnosis (DDx) is a method of analysis that distinguishes a particular disease or condition from others that present with similar clinical features.

[1] Differential diagnostic procedures are used by clinicians to diagnose the specific disease in a patient, or, at least, to consider any imminently life-threatening conditions.

This method may employ algorithms, akin to the process of elimination, or at least a process of obtaining information that decreases the "probabilities" of candidate conditions to negligible levels, by using evidence such as symptoms, patient history, and medical knowledge to adjust epistemic confidences in the mind of the diagnostician (or, for computerized or computer-assisted diagnosis, the software of the system).

Differential diagnosis can be regarded as implementing aspects of the hypothetico-deductive method, in the sense that the potential presence of candidate diseases or conditions can be viewed as hypotheses that clinicians further determine as being true or false.

[citation needed] For an individual (who becomes the "patient" in this example), a blood test of, for example, serum calcium shows a result above the standard reference range, which, by most definitions, classifies as hypercalcemia, which becomes the "presentation" in this case.

For simplicity, let's say that the only information given in the medical records is a family history of primary hyperparathyroidism (here abbreviated as PH), which may explain the finding of hypercalcemia.

The main causes of hypercalcemia are primary hyperparathyroidism (PH) and cancer, so for simplicity, the list of candidate conditions that the clinician could think of can be given as: The probability that 'primary hyperparathyroidism' (PH) would have occurred in the first place in the individual (P(PH WHOIFPI)) can be calculated as follows: Let's say that the last blood test taken by the patient was half a year ago and was normal and that the incidence of primary hyperparathyroidism in a general population appropriately matches the individual (except for the presentation and mentioned heredity) is 1 in 4000 per year.

Ignoring more detailed retrospective analyses (such as including speed of disease progress and lag time of medical diagnosis), the time-at-risk for having developed primary hyperparathyroidism can roughly be regarded as being the last half-year because a previously developed hypercalcemia would probably have been caught up by the previous blood test.

This corresponds to a probability of primary hyperparathyroidism (PH) in the population of: With the relative risk conferred from the family history, the probability that primary hyperparathyroidism (PH) would have occurred in the first place in the individual given from the currently available information becomes: Primary hyperparathyroidism can be assumed to cause hypercalcemia essentially 100% of the time (rPH → hypercalcemia = 1), so this independently calculated probability of primary hyperparathyroidism (PH) can be assumed to be the same as the probability of being a cause of the presentation: For cancer, the same time-at-risk is assumed for simplicity, and let's say that the incidence of cancer in the area is estimated at 1 in 250 per year, giving a population probability of cancer of: For simplicity, let's say that any association between a family history of primary hyperparathyroidism and risk of cancer is ignored, so the relative risk for the individual to have contracted cancer in the first place is similar to that of the population (RRcancer = 1): However, hypercalcemia only occurs in, very approximately, 10% of cancers,[8] (rcancer → hypercalcemia = 0.1), so: The probabilities that hypercalcemia would have occurred in the first place by other candidate conditions can be calculated in a similar manner.

The procedure of differential diagnosis can become extremely complex when fully taking additional tests and treatments into consideration.

Here, let's say that the clinician considers the profile-relative probabilities of being of enough concern to indicate sending the patient a call for a clinician visit, with an additional visit to the medical laboratory for an additional blood test complemented with further analyses, including parathyroid hormone for the suspicion of primary hyperparathyroidism.

The probability of primary hyperparathyroidism is now termed Pre-BTPH because it corresponds to before the blood test (Latin preposition prae means before).

Let's say that the patient in this example is revealed to have at least some of the symptoms and signs of depression, bone pain, joint pain or constipation of more severity than what would be expected by the hypercalcemia itself, supporting the suspicion of primary hyperparathyroidism,[10] and let's say that the likelihood ratios for the tests, when multiplied together, roughly results in a product of 6 for primary hyperparathyroidism.

For "cancer", the cutoff at which to confidently regard it as ruled out maybe more stringent because of severe consequences of missing it, so the physician may consider that at least a histopathologic examination of the resected tissue is indicated.

The validity of both the initial estimation of probabilities by epidemiology and further workup by likelihood ratios are dependent on the inclusion of candidate conditions that are responsible for a large part as possible of the probability of having developed the condition, and it is clinically important to include those where relatively fast initiation of therapy is most likely to result in the greatest benefit.

By an initial method by epidemiology, the incidence of parathyroid carcinoma is estimated at 1 in 6 million people per year,[11] giving a very low probability before taking any tests into consideration.

Many studies demonstrate improvement of quality of care and reduction of medical errors by using such decision support systems.

Some of these systems are designed for a specific medical problem such as schizophrenia,[12] Lyme disease[13] or ventilator-associated pneumonia.

[14] Others are designed to cover all major clinical and diagnostic findings to assist physicians with faster and more accurate diagnosis.

However, these tools all still require advanced medical skills to rate symptoms and choose additional tests to deduce the probabilities of different diagnoses.

Methods similar to those of differential diagnostic processes in medicine are also used by biological taxonomists to identify and classify organisms, living and extinct.

Similar procedures may be used by plant and maintenance engineers and automotive mechanics and used to be used in diagnosing faulty electronic circuitry.