What is the appropriate diagnostic and treatment approach for a patient, possibly a pediatric patient with a recent history of diarrhea, presenting with symptoms suggestive of either Hemolytic Uremic Syndrome (HUS) or Thrombotic Thrombocytopenic Purpura (TTP)?

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Distinguishing HUS from TTP: Diagnostic and Treatment Approach

When a patient presents with microangiopathic hemolytic anemia and thrombocytopenia, immediately order ADAMTS13 activity and stool testing for Shiga toxin-producing E. coli (STEC)—ADAMTS13 <10 IU/dL confirms TTP requiring urgent plasma exchange, while positive STEC with diarrhea 4-5 days before symptoms indicates typical HUS requiring supportive care only, but if diarrhea and symptoms appear simultaneously or STEC is negative, suspect atypical HUS requiring complement inhibitor therapy. 1, 2

Immediate Diagnostic Algorithm

Step 1: Confirm Thrombotic Microangiopathy (TMA)

When any patient presents with anemia plus thrombocytopenia in the emergency setting, immediately obtain: 1, 2

  • Complete blood count with peripheral blood smear for schistocytes
  • LDH, haptoglobin, indirect bilirubin (elevated LDH and reduced haptoglobin confirm hemolysis)
  • Direct Coombs test (must be negative to confirm non-immune hemolysis)
  • Creatinine and urinalysis for hematuria/proteinuria (confirms renal involvement)
  • Platelet count <150,000/mm³ or 25% reduction from baseline 1, 2

Critical caveat: Schistocytes >1% favor TMA diagnosis, but their absence should NOT exclude early TMA diagnosis due to low test sensitivity—do not delay treatment while waiting for schistocytes. 2, 3

Step 2: Differentiate TTP from HUS Immediately

Order these tests urgently and simultaneously: 1, 2

ADAMTS13 activity (results needed within hours, not days):

  • <10 IU/dL = TTP confirmed → Start plasma exchange immediately 1, 4
  • ≥10 IU/dL = Proceed to HUS differentiation 1, 2

Stool testing for STEC/verocytotoxin-producing E. coli:

  • Test for both STEC O157 culture AND Shiga toxin/genes 5, 3
  • Consider distinguishing Shiga toxin 1 vs 2 (stx2 more potent, higher HUS risk) 5

Distinguishing Typical (STEC) HUS from Atypical HUS

Typical STEC-HUS Indicators:

  • Diarrhea onset 4-5 days BEFORE HUS symptoms (this timing is pathognomonic) 1, 5
  • Positive stool STEC testing 1, 2
  • Bloody diarrhea in ~60% of cases 5
  • Predominantly affects children <5 years 5, 3

Atypical HUS (aHUS) Indicators:

  • Short diarrhea period OR simultaneous onset of diarrhea and HUS (not the typical 4-5 day gap) 1, 2
  • Negative STEC testing 1, 2
  • Can occur at any age 1
  • May present without all three classic findings (up to 50% of cases lack one component at onset) 1, 3

Pediatric-specific consideration: In children <1 year old with aHUS, test for complement-unrelated genes (DGKE, WT1) and consider methylmalonic acidemia with homocystinuria (MMACHC) causing cobalamin deficiency. 1, 2, 5

Treatment Pathways Based on Diagnosis

For TTP (ADAMTS13 <10 IU/dL):

Start plasma exchange immediately—this is a medical emergency with high mortality without treatment. 4, 6

  • Plasma exchange using fresh frozen plasma reduces failure of remission (RR 2.87) and mortality (RR 1.91) compared to plasma infusion alone 6
  • Add caplacizumab 11 mg IV bolus at least 15 minutes before first plasma exchange, then 11 mg subcutaneous daily 4
  • Continue immunosuppressive therapy 4
  • Warning: Caplacizumab increases bleeding risk—withhold 7 days before elective procedures 4

For Typical STEC-HUS:

Supportive care ONLY—do NOT use plasma exchange, antibiotics, or antimotility agents. 5, 7, 6

  • Administer IV fluids aggressively during diarrhea phase (reduces oligoanuric renal failure risk) 5
  • Dehydration at admission increases dialysis need 5
  • Antibiotics may worsen outcomes and increase HUS risk—avoid them 5
  • Antimotility agents are contraindicated 7
  • No specific therapies have proven effective in children with typical HUS 7, 6
  • Monitor daily: hemoglobin, platelets, electrolytes, BUN, creatinine during days 1-14 3
  • Typical HUS usually recovers spontaneously with good prognosis 7, 8

For Atypical HUS (aHUS):

Initiate complement inhibitor therapy (eculizumab or ravulizumab) immediately—delays increase morbidity and mortality. 1, 7

  • aHUS has >50% progression to chronic renal dysfunction and 10% mortality without treatment 5, 9
  • Plasma exchange may be used as bridge therapy while awaiting complement inhibitor 7, 9
  • Mandatory meningococcal vaccination (quadrivalent A,C,W,Y conjugate + B vaccine) plus long-term penicillin prophylaxis due to complement inhibition 1
  • Obtain genetic testing for complement pathway mutations (CFH, CFHR1-5, C3, CD46, CFI, THBD, DGKE, CFB) for prognosis 1, 3
  • Gene variants found in 60% of aHUS cases; absence doesn't exclude diagnosis 1

Neurological Involvement Assessment

Neurological symptoms occur in 10-20% of aHUS patients and are the first cause of death—monitor closely. 1, 5

If neurological symptoms present (motor symptoms, weakness, vision changes, seizures, encephalopathy): 1, 2

  • Obtain neurology consultation immediately
  • Perform EEG and brain MRI with FLAIR and T2-weighted sequences
  • Look for bilateral symmetric hyperintensities in basal ganglia (suggestive of TMA) 1, 2

Neurological involvement is MORE common in TTP than HUS—this clinical feature helps differentiate when laboratory results are pending. 9

Critical Pitfalls to Avoid

  1. Do NOT wait for ADAMTS13 results to start plasma exchange if TTP is suspected—mortality is too high without immediate treatment 4, 9

  2. Do NOT give antibiotics for suspected STEC infection—they may increase HUS risk and worsen outcomes 5, 7

  3. Do NOT assume absence of all three classic findings excludes HUS—up to 50% of aHUS cases lack one component at onset, especially in newborns 1, 3

  4. Do NOT use plasma exchange for typical STEC-HUS in children—no benefit shown and supportive care alone is appropriate 7, 6

  5. Do NOT miss the 4-5 day diarrhea-to-HUS timing—this distinguishes typical from atypical HUS and completely changes management 1, 5

  6. In post-transplant patients, do NOT exclude TMA based on normal platelets or hemoglobin—13% lack thrombocytopenia and 38% lack significant anemia/thrombocytopenia 1

References

Guideline

Guideline Directed Topic Overview

Dr.Oracle Medical Advisory Board & Editors, 2025

Guideline

Diagnosis and Management of Hemolytic Uremic Syndrome (HUS)

Praxis Medical Insights: Practical Summaries of Clinical Guidelines, 2025

Guideline

Diagnostic Criteria and Considerations for Hemolytic Uremic Syndrome (HUS)

Praxis Medical Insights: Practical Summaries of Clinical Guidelines, 2025

Guideline

Hemolytic Uremic Syndrome Causes and Characteristics

Praxis Medical Insights: Practical Summaries of Clinical Guidelines, 2026

Research

Interventions for hemolytic uremic syndrome and thrombotic thrombocytopenic purpura: a systematic review of randomized controlled trials.

American journal of kidney diseases : the official journal of the National Kidney Foundation, 2009

Research

Thrombocytopenia in hospitalized patients: approach to the patient with thrombotic microangiopathy.

Hematology. American Society of Hematology. Education Program, 2017

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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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