NYU Medical Grand Rounds Clinical Vignette

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NYU Medical Grand Rounds Clinical Vignette

• Christopher Tully MD, PGY-2
• November 4, 2009

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Chief Complaint
A 22 year-old-man presents to an adult hematology
clinic for continued management of congenital
thrombotic thrombocytopenic purpura (TTP).
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History of Present Illness

• The patient initially presented at birth with
  jaundice.
• Laboratory tests were significant for
  unconjugated hyperbilirubinemia of 17 mg/dl for
  which the patient received phototherapy and
  exchange transfusion.
• All other laboratory findings at time of birth
  were within normal limits.
• Patient was discharged home without
  complication.

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History of Present Illness

• 3 months later, the patient was admitted with
  bronchiolitis.
• Laboratory tests at the time were significant
  for
• Hematocrit of 44 (normal 42-60)
• Reticulocyte count of 5.5 (normal 3-7)
• Platelet count of 9,000/L (normal 135,000
  465,000)
• Peripheral smear was significant for red blood
  cell fragments
• Patient underwent a double volume exchange
  transfusion and received fresh frozen plasma and
  platelets.

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History of Present Illness

• The hospitalization was complicated by a focal
  seizure.
• Head CT without contrast at the time
  demonstrated a right parietal infarct.
• Bone marrow biopsy demonstrated increased
  megakaryocytes with all other cell lines within
  normal limits.

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History of Present Illness

• Analysis of peripheral plasma samples by SDS
  agarose gel electrophoresis revealed presence of
  ultra-large multimers of von Willebrand factor,
  confirming the diagnosis of TTP

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History of Present Illness

• Patient was started on bi-weekly fresh frozen
  plasma transfusions in order to maintain a
  platelet count between 130,000 - 140,000.
• On several occasions, the patient was unable to
  receive transfusions and presented with platelet
  counts ranging from 40,000 to 71,000 requiring
  plasmapheresis with multiple units of plasma.

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Additional History

• Past Medical History
• Seizure disorder
• Hypertension
• Migraine headaches
• Past Surgical History
• None

• Family History
• Father with low ADAMTS13 levels
• Social History
• Single, lives with family
• Attending college
• Denies smoking
• Denies alcohol use
• Denies illicit drug use

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Outpatient Medications
Aspirin 81mg daily Valproic Acid ER 1250mg twice
daily Topiramate 175mg twice daily Levetiracetam
1500mg twice daily Enalapril 10mg daily
Allergies Phenytoin, Clindamycin, Phenobarbital
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Physical Examination
General No apparent distress, alert and
orientated x 3 with minor inattentiveness during
questioning
Vital Signs T 99.2 F, BP 116/66, HR 91, RR 16,
Sa02 100
HEENT left homonymous hemianopsia, decreased
left nasolabial fold Chest right-sided Mediport
in place with no erythema Skin no petechiae or
ecchymosis noted
The remainder of the physical exam was normal.
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Laboratory Findings

• CBC
• Leukocytes 10,200
• Hemoglobin 13.5 g/dL, Hematocrit 39.6
• Platelet 151,000/L

• Basic metabolic panel within normal limits

• Hepatic Panel within normal limits

• Coagulation panel within normal limits

• Valproic Acid level 95.4 ug/mL (normal 50-120
  ug/mL)

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Laboratory Findings

• Given diagnosis of TTP, further confirmatory
  testing was performed
• ADAMTS13 Inhibitor lt0.4 Inhibitor Units (normal
  lt0.4)
• ADAMTS13 Activity 11 (normal gt67)

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Additional Studies

• MRI Brain with and without contrast
• Right posterior parietal, temporal and occipital
  gliosis likely secondary to remote infarction

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Final Diagnoses
Congenital Thrombotic Thrombocytopenic Purpura
secondary to deficient ADAMTS13 activity
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