What could be the diagnosis based on the patient's symptoms and findings?

Approaching Diagnosis with Multiple Clinical Findings

The diagnosis should be determined through systematic triangulation of clinical data, recognizing that multiple concurrent conditions may coexist rather than forcing all findings into a single diagnostic label. 1

Core Diagnostic Framework

The fundamental approach to diagnosis involves determining the mechanisms by which the patient's health condition arises, rather than simply matching symptoms to preexisting labels 2. This is particularly critical when patients present with complex or atypical presentations that don't fit neatly into single diagnostic categories.

Essential Diagnostic Steps

Start by cataloging all symptoms, physical signs, and laboratory/imaging abnormalities without immediately attempting to unify them under one diagnosis. 1 The evidence strongly indicates that clinicians are often guided by a "single disorder paradigm" which can lead to incomplete diagnoses when patients actually have multiple concurrent conditions 3.

• Document the temporal relationship of symptoms - which came first, which are constant versus intermittent 1
• Identify "alarm features" that mandate specific workup: fever, unintentional weight loss, blood in stool, anemia, abnormal vital signs 1
• Distinguish typical from atypical presentations of common conditions 4

Critical Pitfall to Avoid

Do not assume all findings must be explained by a single diagnosis. 3 In a series of 14 patients with multiple genetic diagnoses, the key lesson was that physicians must question whether each diagnosis truly explains all symptoms and continue evaluation if gaps remain 3.

Systematic Evaluation Process

1. Clinical Assessment Priority

Begin with focused history targeting the specific presenting complaints and their characteristics. 1

For cardiac symptoms:

• Chest pain/pressure, dyspnea, orthopnea, paroxysmal nocturnal dyspnea, reduced exercise tolerance, ankle swelling 1
• Elevated jugular venous pressure, third heart sound, laterally displaced apical impulse are more specific signs 1

For respiratory symptoms:

• Distinguish true dyspnea from anxiety-related breathing patterns 5
• Assess for wheezing, cough timing, sputum production 5

For abdominal symptoms:

• Pain characteristics: location, timing relative to meals/defecation, relieving factors 1
• Stool frequency, consistency, presence of blood or mucus 1

2. Laboratory and Imaging Strategy

Order tests based on specific clinical suspicion rather than broad screening. 1

Essential initial tests:

• Complete blood count and basic metabolic panel to detect anemia, infection, electrolyte abnormalities 1
• Urinalysis and urine culture even if dipstick negative (to detect lower bacterial counts) 1
• ECG for any cardiac symptoms - HF is unlikely with completely normal ECG 1

Condition-specific testing:

• Cardiac biomarkers (troponin, BNP/NT-proBNP) when cardiac ischemia or heart failure suspected 1
• Chest CT with specific attention to pattern recognition (NSIP, organizing pneumonia, hypersensitivity pneumonitis, diffuse alveolar damage) if pulmonary disease suspected 1
• Temporal artery biopsy or imaging for giant cell arteritis, though recognize no test has 100% sensitivity/specificity 1

3. Interpreting Equivocal Results

When test results don't align with clinical suspicion, state explicitly that you are making a clinical diagnosis and document your reasoning. 1

• A single positive biomarker without rising/falling pattern is equivocal 1
• Negative temporal artery biopsy doesn't exclude giant cell arteritis if clinical suspicion high 1
• Normal imaging doesn't exclude functional disorders (e.g., IBS, interstitial cystitis) 1

Recognizing Multiple Concurrent Diagnoses

Actively consider whether findings represent more than one disease process, particularly when:

• Some symptoms respond to treatment while others persist 3
• Findings don't fit the typical pattern of a single condition 4
• The patient has risk factors for multiple conditions (e.g., elderly with multiple comorbidities) 6

For example, a patient may have both:

• Asthma AND anxiety-related dysfunctional breathing 5
• Cardiac disease AND pulmonary disease causing dyspnea 5
• Irritable bowel syndrome AND inflammatory bowel disease 1

Documentation and Communication

The radiology/pathology report conclusion should state whether findings are compatible with the suspected diagnosis, not just describe findings. 1

• Use contextual interpretation: "sacroiliitis compatible with axial spondyloarthritis" rather than just "sacroiliitis" 1
• State confidence level and any uncertainty explicitly 1
• List the most prominent lesions and whether active inflammation or structural changes present 1

Quality Assurance

Continuously reassess whether the working diagnosis explains all clinical findings. 3

• Schedule follow-up to evaluate treatment response 5
• If symptoms persist despite appropriate treatment for the presumed diagnosis, restart the diagnostic process 3
• Consider specialist referral when findings remain unexplained or multiple complex conditions suspected 7