What is the most likely diagnosis for a patient presenting with thrombocytopenia (low platelet count), bloody loose bowel motions (hematochezia), normal coagulation studies (Prothrombin Time (PT), Partial Thromboplastin Time (PTT), International Normalized Ratio (INR)), and no rash?

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Hemolytic Uremic Syndrome (HUS)

The most likely diagnosis is B. Hemolytic uremic syndrome (HUS), given the classic triad of thrombocytopenia, bloody diarrhea (hematochezia), and normal coagulation studies in a pediatric patient. 1

Diagnostic Reasoning

The clinical presentation points definitively toward HUS based on the following key features:

  • Bloody loose bowel motions (hematochezia) preceding thrombocytopenia is the hallmark presentation of typical HUS, which accounts for approximately 90% of pediatric cases and follows gastrointestinal infection with Shiga toxin-producing organisms 1

  • Isolated thrombocytopenia with normal PT, PTT, and INR effectively excludes disseminated intravascular coagulation (DIC), as DIC characteristically presents with prolonged PT/PTT and elevated INR due to consumption of coagulation factors 2, 3

  • Absence of rash makes immune thrombocytopenia (ITP) less likely, though ITP typically presents with petechiae or purpura in symptomatic patients 2, 1

Why Not the Other Diagnoses?

Disseminated Intravascular Coagulopathy (DIC) - Excluded

  • DIC requires abnormal coagulation studies by definition, with prolonged PT/PTT, elevated INR, decreased fibrinogen, and elevated D-dimer 2
  • Normal coagulation parameters in this patient definitively rule out DIC 3

Immune Thrombocytopenia (ITP) - Less Likely

  • ITP is a diagnosis of exclusion that presents with isolated thrombocytopenia without preceding bloody diarrhea 2, 1
  • While ITP can occur in children following viral infections, the presence of bloody bowel motions is not characteristic and points toward a thrombotic microangiopathy instead 1
  • Physical examination in ITP typically shows bleeding manifestations (petechiae, purpura, bruising), and the absence of any rash makes this diagnosis less probable 2, 1

Thrombotic Thrombocytopenic Purpura (TTP) - Unlikely in Children

  • TTP is exceedingly rare in pediatric patients and typically presents in adults 3
  • TTP classically presents with the pentad of thrombocytopenia, microangiopathic hemolytic anemia, neurologic symptoms, renal dysfunction, and fever—not primarily with bloody diarrhea 3
  • The presence of bloody diarrhea as a prodromal symptom strongly favors HUS over TTP 1

Critical Diagnostic Confirmation Needed

To confirm HUS and guide management, the following laboratory tests should be obtained immediately:

  • Complete blood count with peripheral blood smear to identify schistocytes (fragmented red blood cells), which indicate microangiopathic hemolytic anemia characteristic of HUS 1, 3

  • Serum creatinine and blood urea nitrogen to assess renal function, as acute kidney injury is a defining feature of HUS 1

  • Lactate dehydrogenase (LDH) and indirect bilirubin to confirm hemolysis 1, 3

  • Stool culture and Shiga toxin testing to identify the causative organism in typical HUS 1

Management Implications

  • Supportive care is the cornerstone of HUS management, including fluid and electrolyte management, blood pressure control, and renal replacement therapy if needed 1

  • Avoid antidiarrheal agents and antibiotics in suspected Shiga toxin-associated HUS, as these may worsen outcomes by increasing toxin release 1

  • Platelet transfusions should be avoided unless life-threatening bleeding occurs, as they may worsen thrombotic microangiopathy 1

  • Plasma exchange is NOT indicated for typical (diarrhea-associated) HUS, unlike atypical HUS or TTP 4

Common Pitfalls to Avoid

  • Do not assume normal coagulation studies exclude all thrombotic microangiopathies—HUS and TTP both present with normal PT/PTT/INR, distinguishing them from DIC 3

  • Do not delay diagnosis waiting for complete laboratory confirmation—initiate supportive care immediately when HUS is suspected clinically 1

  • Do not confuse typical HUS (diarrhea-associated) with atypical HUS (complement-mediated), as they have different etiologies, prognoses, and treatments 4

References

Guideline

Thrombocytopenia Causes and Diagnosis

Praxis Medical Insights: Practical Summaries of Clinical Guidelines, 2025

Guideline

Guideline Directed Topic Overview

Dr.Oracle Medical Advisory Board & Editors, 2025

Professional Medical Disclaimer

This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

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