MBBS SAQ · Haematology
Thrombocytopenia — diagnosing ITP and excluding the dangerous mimics
A final-prof / NEET-PG SAQ on acute severe isolated thrombocytopenia in a young woman — establishing the diagnosis of immune thrombocytopenia (ITP) by exclusion, specifically excluding TTP, DIC, leukaemia/marrow failure and EDTA pseudothrombocytopenia, and the first-line management of prednisolone plus IVIg with the treatment-for-the-patient-not-the-number principle.
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Question
A 28-year-old woman presents to the emergency department with a 1-week history of easy bruising, gum bleeding and heavy menstrual bleeding. She is otherwise previously well, takes no regular medication, and has no significant past or family history. On examination she has widespread petechiae over the lower limbs and a few purpuric patches on the arms, but there is NO splenomegaly, NO lymphadenopathy and no active mucosal bleeding. Full blood count: platelets 8 x 10^9/L, haemoglobin 122 g/L, white cell count 6.8 x 10^9/L. Blood film: isolated thrombocytopenia with large platelets, no schistocytes, no blasts. PT 12 s, APTT 31 s (both normal). Outline your diagnosis, key differential diagnoses to exclude, investigations, and immediate management. (10 marks)
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Diagnosis: immune thrombocytopenia (ITP). Isolated SEVERE thrombocytopenia (platelets 8 x 10^9/L) with normal haemoglobin and white cells, a normal blood film (no schistocytes, no blasts), normal PT and APTT, in an otherwise WELL patient with NO splenomegaly or lymphadenopathy, is the classic presentation of ITP — a diagnosis of exclusion once secondary causes are ruled out.[1]
Diagnosis of exclusion — the dangerous mimics to actively exclude:[2]
- TTP — excluded here by the ABSENCE of schistocytes, neurology, renal impairment and fever (TTP needs urgent plasma exchange; never give platelets).
- DIC — excluded by the NORMAL PT, APTT and (implicitly) fibrinogen/D-dimer.
- Acute leukaemia / marrow failure — excluded by the normal haemoglobin, white cells and absence of blasts on the film.
- EDTA pseudothrombocytopenia — excluded by the film confirming true thrombocytopenia (no clumps); a citrate-tube recheck is reasonable if any doubt.
Investigations.[1]
- Confirm: full blood count, blood film, coagulation screen (PT, APTT, fibrinogen, D-dimer) — all consistent with ITP here.
- Secondary-cause screen in all newly diagnosed adults: HIV and hepatitis C serology, H. pylori testing (urea breath test or stool antigen), antinuclear antibody and anti-dsDNA, beta-HCG, thyroid function, immunoglobulins.
- Bone marrow aspirate and trephine: NOT required routinely in a typical case like this. Reserve for atypical features, age over 60, before splenectomy, or refractory disease.
Immediate management — treat the patient, not the number.[3]
- The principle is to achieve a SAFE (haemostatic) platelet count, generally over 30, NOT a normal count. With platelets under 10 and active bleeding (gum bleeding, menorrhagia), she needs treatment.
- First-line: oral prednisolone 1 mg/kg/day as a short course with planned taper (about two-thirds respond). High-dose dexamethasone 40 mg daily for 4 days is an alternative pulse.
- Because the count is under 10 and she has active bleeding, add IVIg 0.4 to 1 g/kg/day for a RAPID response (24 to 48 hours). If Rh(D)-positive and non-splenectomised, IV anti-D is an alternative.
- General haemostatic measures: avoid intramuscular injections, NSAIDs and antiplatelets; give tranexamic acid for the menorrhagia/mucosal bleeding; control any hypertension.
- Admit for active bleeding and platelets under 10; she is NOT currently a life-threatening bleed, but if she were (suspected intracranial haemorrhage), give the rescue bundle — IV methylprednisolone + IVIg + platelet transfusion together.
Safety-netting and follow-up.[3]
- Warn to re-present immediately with severe headache, visual disturbance or heavy bleeding (features of intracranial haemorrhage).
- Plan a taper of steroids to limit toxicity; if chronic, persistent or refractory, escalate to second-line therapy — TPO receptor agonists (eltrombopag, romiplostim), rituximab, splenectomy or fostamatinib.
Common errors
- Missing TTP — failing to look at the blood film for schistocytes; giving platelets to a patient who actually has TTP (fuels microvascular thrombosis and can be fatal).
- Over-treating the number — aiming for a normal platelet count rather than a safe count; prolonged high-dose steroids with their cumulative toxicity.
- Not screening for secondary causes — forgetting HIV, hepatitis C, H. pylori and SLE, which may need specific directed therapy.
- Performing an unnecessary bone marrow biopsy in a typical young adult with isolated thrombocytopenia and a normal film.
- Giving prophylactic platelet transfusions in ITP — they are rapidly destroyed and reserved only for life-threatening bleeding given with IVIg and steroids.
- Treating EDTA pseudothrombocytopenia as true disease — always confirm on the blood film and a citrate-tube recheck first.
Examiner notes
- The exam rewards a structured sequence: recognise the diagnostic triad (isolated thrombocytopenia, normal marrow implied by normal other counts and film, no other cause) → actively exclude the dangerous mimics (TTP, DIC, leukaemia, EDTA) → screen for secondary causes → treat the patient not the number with first-line prednisolone ± IVIg.
- State the principle (safe count, not normal count) and the first-line agents with dose (prednisolone 1 mg/kg; IVIg 0.4 to 1 g/kg) to score full marks.
- A strong candidate names TTP as the must-not-miss mimic, states that platelet transfusion is avoided in ITP except for life-threatening bleeding, and mentions tranexamic acid and avoiding NSAIDs/IM injections.[1][2][3]
References3ShowHide
- [1]Provan D, Arnold DM, Bussel JB, et al. Updated international consensus report on the investigation and management of primary immune thrombocytopenia. Blood Advances, 2019.PMID 31770441
- [2]Anat GG Current approaches for the diagnosis and management of immune thrombocytopenia. European Journal of Internal Medicine, 2023.PMID 36424271
- [3]Neunert C, Terrell DR, Arnold DM, et al. American Society of Hematology 2019 guidelines for immune thrombocytopenia. Blood Advances, 2019.PMID 31794604