What is the diagnosis and management for a patient with facial puffiness and epigastric abdominal pain, with normal echocardiogram (echo) and normal N-terminal pro b-type natriuretic peptide (NT pro BNP) results?

Diagnosis and Management of Facial Puffiness with Epigastric Pain

With normal NT-proBNP and normal echocardiogram, cardiac causes including heart failure are effectively ruled out, and you should pursue non-cardiac etiologies for this patient's facial puffiness and epigastric pain. 1

Cardiac Exclusion

The normal NT-proBNP result carries exceptional diagnostic weight in this clinical scenario:

• An NT-proBNP <300 pg/mL has a 99% negative predictive value for excluding acute heart failure, making cardiac dysfunction an extremely unlikely cause of the facial puffiness 1, 2
• Normal echocardiography further confirms absence of structural cardiac abnormalities, ventricular dysfunction, or valvular disease that could explain the symptoms 2
• The combination of normal NT-proBNP and normal echocardiogram provides robust evidence against any cardiac etiology requiring heart failure treatment 1

Important caveat: While rare, flash pulmonary edema can occasionally present with unexpectedly low NT-proBNP levels at initial presentation, though this would typically show abnormalities on echocardiography 2. Obesity can also lower NT-proBNP levels by 20-30%, but your patient's normal echo makes this consideration moot 1.

Differential Diagnosis to Pursue

With cardiac causes excluded, focus your diagnostic workup on:

Renal Causes

• Nephrotic syndrome - presents with facial/periorbital edema and can cause epigastric discomfort from ascites or hepatomegaly
• Acute glomerulonephritis - causes facial puffiness with potential abdominal pain
• Order: urinalysis, urine protein-to-creatinine ratio, serum creatinine, albumin, and lipid panel 2

Gastrointestinal Causes

• Peptic ulcer disease/gastritis - primary cause of epigastric pain with normal imaging 3
• Pancreatitis - can present with epigastric pain; facial edema may be from hypoalbuminemia in chronic cases 3
• Superior mesenteric artery syndrome - rare but presents with epigastric pain, nausea, and weight loss 4
• Order: lipase, amylase, liver function tests, and consider upper endoscopy 3

Endocrine/Metabolic Causes

• Hypothyroidism - causes facial puffiness (myxedema) and can present with abdominal discomfort
• Cushing's syndrome - moon facies with potential abdominal symptoms
• Order: thyroid-stimulating hormone, morning cortisol 2

Allergic/Angioedema

• Angioedema - facial swelling that may be accompanied by gastrointestinal symptoms from intestinal wall edema
• Consider medication history (ACE inhibitors, NSAIDs) and complement levels if recurrent

Recommended Diagnostic Algorithm

1. Obtain comprehensive metabolic panel including electrolytes, renal function, liver enzymes, and albumin 2
2. Check urinalysis with microscopy and spot urine protein-to-creatinine ratio to evaluate for proteinuria 2
3. Measure thyroid-stimulating hormone to exclude hypothyroidism 2
4. If epigastric pain predominates: Check lipase/amylase and consider upper endoscopy for peptic disease 3
5. If facial edema predominates with hypoalbuminemia: Pursue nephrotic workup with 24-hour urine protein and renal ultrasound

Key Clinical Pitfalls

• Do not pursue further cardiac workup given the robust negative predictive value of normal NT-proBNP and echocardiogram 1, 2
• Avoid attributing symptoms to "atypical heart failure" when both biomarkers and imaging are normal - this leads to inappropriate diuretic therapy 2
• Consider medication-induced causes - NSAIDs can cause both facial edema and epigastric pain 3
• Remember that normal abdominal ultrasound does not exclude peptic ulcer disease, pancreatitis, or other mucosal pathology requiring endoscopy or CT enterography 3, 4