Case 100 (part D) – summary

The patient had mild thrombocytopenia and has suffered epistaxis. Epistaxis is relatively common and therefore structural causes should also be looked into. This is especially so if the nose bleeds are unilateral. There is a wide differential of why someone may have a low platelet count, including:

  • Any viral illness including HIV and hepatitis
  • Laboratory artefact e.g. platelet clumping
  • Sepsis
  • Medications
  • Nutritional
  • Liver disease and hypersplenism
  • Autoimmune disease
  • Immune thrombocytopenia
  • Anti-phospholipid syndrome
  • Marrow infiltration e.g. leukaemia
  • Inherited bleeding disorders e.g. type 2b vWD and platelet disorders
  • DIC
  • Micro-angiopathic haemolytic anaemia e.g. TTP, HUS
  • Evans syndrome
  • Post transfusion purpura
  • Heparin-induced thrombocytopenia
  • Pregnancy related including gestational thrombocytopenia and consumption due to pre-eclampsia etc.
  • Kasabach-Merritt syndrome
  • Inherited bone marrow failure syndromes e.g. thrombocytopenia with absent radii, Fanconi anaemia, Wiscott Aldrich etc.
  • Dilutional or consumption e.g. major haemorrhage

Most of these can be ruled out by history and examination and some basic tests. For most further blood tests may not be required but below gives a vague guide.

History

  • Bleeding using bleeding assessment tool
  • Eczema
  • Diet and drugs
  • Birth
  • Recurrent infections

Family history

  • AML and MDS
  • Bleeding

Examination

  • Hearing loss
  • Malformations including arms, dental, face, heart
  • Pigmentation
  • Developmental delay

Laboratory (not all usually necessary)

  • Coagulation screen
  • Clauss fibrinogen
  • vWF, VIII, IX, XI
  • FBC, reticulocytes and film
  • LFTs, renal function
  • Inflammatory markers
  • Immunoglobulins
  • Haematinics

In our cases the blood film showed enlarged platelets with a neutrophil inclusion consistent with a Döhle body. May Hegglin

Macrothrombocytopenia

This can be seen in:

  • Bernard Soulier syndrome
  • Paris-Trousseau syndrome
  • MYH9 syndromes
  • Arthrogryposis renal dysfunction and cholestasis syndrome
  • Giant platelets and velo-cardio-facial syndrome
  • Macrothrombocytopenia with dyserythropoiesis/anaemia/beta thalassaemia (GATA1)
  • Grey platelet syndrome

 

May Hegglin and MYH9 abnormalities

The combination of mild thrombocytopenia with mild bleeding and leucocyte inclusions makes one think of MYH9 abnormalities which are rare, autosomal dominant conditions due to mutation in MYH9 on chromosome 22 – codes for heavy chain of non-muscle myosin IIa – involved in contractile activity of cytoskeleton. Patients have thrombocytopenia with enlarged hypergranular platelets. They may have mild neutropenia but no increase in infection. Bleeding is uncommon and can usually be treated with tranexamic acid. Structural problems (in this cause ne had abnormal vasculature in the nose) should be looked for. Some MYH9 conditions may result in renal disease and hearing loss (Epstein syndrome) and cataracts (Fetchner syndrome) so these should be looked for.

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