PEDIATRICS :

HEMATOLOGY
- ONCOLOGY
3G - LGD 1
Case
 PRIMARY
DIAGNOSIS
Based on the history and physical examination, the primary diagnosis is a bleeding disorder, most likely Immune Thrombocytopenic Purpura
(ITP).

Several factors support this diagnosis:

- Epistaxis and easy bruising: Recurrent episodes of nosebleeds (epistaxis) and bruising following minor trauma or vaccinations suggest an
underlying bleeding disorder.
- Absence of other systemic symptoms: The patient has no fever or systemic signs of infection.
- Normal birth history and no intake of medications: Excludes trauma-related causes or drug-induced bleeding tendencies.
- No family history of bleeding tendencies: This lessens the likelihood of a hereditary condition, but ITP can occur without family
predisposition.
- Normal physical exam findings aside from bruising and epistaxis: There is no organomegaly, joint swelling, or other signs that would suggest
a more complex systemic illness.

ITP is an immune-mediated condition where the body produces antibodies that destroy platelets, leading to easy bruising, bleeding, and
sometimes petechiae. Further workup like a complete blood count (CBC) would be essential to confirm thrombocytopenia, supporting the
diagnosis.
 BASIS FOR DIAGNOSIS
Epistaxis: Recurrent nosebleeds that required intervention (nasal packing).
Bruising: Easy bruising noted with minor trauma (hitting furniture) and after vaccinations.
No NSAID or aspirin use: This rules out drug-induced bleeding disorders.
Normal systemic findings: No fever, rashes, or organomegaly, which helps rule out systemic diseases like leukemia or
vasculitis.
Pale conjunctiva: Suggestive of mild anemia, possibly from blood loss.
These findings suggest a primary issue with platelet function or number, which aligns with ITP.
The absence of a family history of bleeding tendencies makes hereditary conditions like hemophilia and von
Willebrand disease less likely, though not impossible. ITP, on the other hand, is typically an acquired condition
and does not have a strong familial inheritance pattern, making this diagnosis more fitting.

Summary:

The recurrent epistaxis, easy bruising with minor trauma, absence of systemic symptoms, normal systemic
examination, and no medication use all point towards a primary platelet disorder, most likely Immune
Thrombocytopenic Purpura (ITP).
 Differentiatial Diagnosis
Von Willebrand Disease (vWD):
vWD could also present with mucosal bleeding such as epistaxis and easy bruising. However, this condition usually has a family history of
bleeding tendencies, which this patient lacks.

Hemophilia:
Hemophilia should be considered in any child with bleeding disorders. It could cause spontaneous bleeding, though it is more commonly
associated with deep tissue bleeding (e.g., hemarthroses). The absence of joint bleeding and the fact that this child does not have a family
history of hemophilia makes this diagnosis less likely but still plausible, particularly in mild cases.

Leukemia:
Leukemia could be considered in children presenting with bleeding tendencies, bruising, or petechiae, even in the absence of systemic
symptoms. A complete blood count (CBC) might show abnormalities in white blood cells or other cell lines (anemia or neutropenia).
Leukemia can present with bone marrow failure and resultant thrombocytopenia, leading to mucosal bleeding and easy bruising.
But according to the case it’s less likely here: The child does not have the common associated findings of leukemia, such as fever, weight
loss, pallor, bone pain, or hepatosplenomegaly.
 Laboratory Diagnosis
1. Complete Blood Count (CBC):
- Thrombocytopenia: Platelet count <100,000/µL (often <20,000/µL in acute cases).
- Normal or elevated mean platelet volume (MPV): Suggests increased production of platelets by the bone marrow (marrow compensation).
- Normal white blood cell (WBC) count and differential.
- Normal hemoglobin levels (unless there is significant bleeding).

2. Peripheral Blood Smear:

- Low platelet count with large, young platelets (megathrombocytes), indicating that the bone marrow is producing new platelets.
- No abnormal WBC morphology or blasts, which would suggest malignancy like leukemia.

3. Bone Marrow Examination (only in specific cases):

- Generally not required unless there are atypical features (e.g., pancytopenia, abnormal cells on smear, or systemic symptoms).
- If performed, shows increased or normal numbers of megakaryocytes (platelet-producing cells), with no other significant abnormalities.

4. Coagulation Studies:
- Normal prothrombin time (PT) and partial thromboplastin time (PTT), differentiating ITP from coagulopathies (like hemophilia).

5. Anti-platelet Antibodies:
- Testing for autoantibodies against platelets is possible but not routinely performed for diagnosis, as these tests are not highly specific or sensitive.
Additional Tests ( if clinically indicated):

1. Viral Serologies: To assess recent infections like Epstein-Barr virus (EBV), cytomegalovirus (CMV), or human immunodeficiency virus (HIV), which can be
associated with thrombocytopenia.
2. H. pylori Testing: In some cases, especially chronic ITP, H. pylori infection may be associated, and eradication might improve platelet counts.

Differential Diagnosis:
- It is critical to rule out other causes of thrombocytopenia such as:
- Leukemia (requires bone marrow examination if suspected).
- Hemolytic uremic syndrome (HUS).
- Systemic lupus erythematosus (SLE).
- Congenital thrombocytopenias.
- Thrombotic thrombocytopenic purpura (TTP).

Key Points from Nelson’s:

- ITP is often a diagnosis of exclusion.
- Most children with acute ITP recover spontaneously within 6 months.
- Chronic ITP is defined as thrombocytopenia lasting for more than 12 months.
 Management
The management of Idiopathic Thrombocytopenic Purpura (ITP) in children generally depends on the severity of the thrombocytop enia and the presence of
bleeding.

1. Observation:
- Mild cases with minimal bleeding (e.g., bruising, mild epistaxis) and a platelet count >20,000/µL often do not require treatment.
- Observation is often appropriate for children who do not have significant bleeding despite low platelet counts, as many cases resolve spontaneously.

2. First-Line Therapy:
- Corticosteroids:
- Prednisone: 1-2 mg/kg/day for 1-2 weeks, followed by a taper. This helps reduce the immune-mediated destruction of platelets.
- Methylprednisolone (IV): For more severe cases, a dose of 30 mg/kg/day for 3 days can be used.
- Intravenous Immunoglobulin (IVIG):
- Typically 1 g/kg as a single dose, or 0.8-1 g/kg/day for 1-2 days. IVIG can rapidly increase platelet counts within 24-48 hours and is particularly useful in
cases with active bleeding or when a rapid rise in platelet count is needed.

3. Second-Line Therapy (if first-line treatments are ineffective or in cases of chronic ITP):
- Anti-D Immunoglobulin: This is used for Rh-positive patients. Dose is 50-75 µg/kg. It works by saturating the immune system, sparing platelets from
destruction.
- Rituximab: An anti-CD20 antibody used in refractory cases, reducing B-cell activity and platelet destruction.
- Thrombopoietin Receptor Agonists (Eltrombopag, Romiplostim): These are used in chronic ITP to stimulate platelet production.
4. Platelet Transfusions:
- Not routinely recommended unless the patient has life-threatening bleeding or is undergoing surgery. Platelets are often destroyed quickly in ITP
unless combined with other treatments like IVIG or steroids.

5. Splenectomy:
- Considered in chronic ITP cases (lasting >12 months) or in cases unresponsive to medical therapy. This removes the primary site of platelet destruction.

6. Adjunctive Care:
- Avoidance of medications that could exacerbate bleeding, such as NSAIDs and aspirin.
- Counseling: Education for caregivers about managing minor bleeding episodes and when to seek medical care for more serious bleeding.

7. Monitoring:
- Regular follow-up to monitor platelet counts and assess for resolution or progression of symptoms is critical.
- Bleeding symptoms and platelet counts are monitored to determine the need for continued therapy or tapering off treatments.

Key Points:
- Acute ITP in children often resolves spontaneously.
- Observation is often appropriate if there is no significant bleeding.
- First-line therapy includes corticosteroids and IVIG, with the choice depending on the severity of bleeding.
- Avoiding NSAIDs/aspirin is critical to prevent worsening bleeding.