CASE SUMMARY BACKGROUND
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Megaloblastic anaemia mimicking as HELLP syndrome K.Ma 1 , A. Khanapure 1 , D. Davies 1 , R. Corser 2 1 – Department of Obstetrics, Queen Alexandra Hospital, Portsmouth 2- Department of Haematology, Queen Alexandra Hospital, Portsmouth CASE SUMMARY BACKGROUND Vitamin B12 and folate requirements are increased in pregnancy and deficiency is common, complicating up to 30% of all pregnancies 1 . However severe deficiency leading to megaloblastic crisis is rare. The resulting clinical picture of haemolytic anaemia, thrombocytopenia and mildly raised liver enzymes may be misinterpreted as the syndrome of HELLP (haemolysis, elevated liver enzymes and thrombocytopenia) 2,3,4 associated with pre-eclampsia. CASE SUMMARY A 21 year old woman, Gravida 3 Para 1 (previous caesarean section), presented at 34 weeks gestation with 14 days history of nausea, vomiting, blurred vision, intermittent abdominal pain and severe bilateral leg cramps. Blood pressure was within normal limits, proteinuria was absent and CTG was normal. Blood tests revealed macrocytic anaemia (Hb6.4g/dL, MCV 104.2ft), thrombocytopenia (platelet count 63x10 9 /L), deranged liver function (AST 54iu/L) and possible haemolysis (LDH >2500iu/L). There was initial debate whether the diagnosis was atypical presentation of HELLP syndrome or severe B12 deficiency and the potential need of pre-term Pre-eclampsia complicated by HELLP syndrome Severe Folate +Vitamin B12 deficiency Symptoms Headaches, visual disturbances, oedema, upper abdominal pain Headaches, limb weakness, nausea, constipation Signs Raised blood pressure Proteinuria +/- Hyper-reflexia, papilloedema Normotensive, no proteinuria +/- Signs of peripheral neuropathy Haematologic al / Biochemical changes Normocytic anaemia Thrombocytopenia Deranged liver function Raised Lactate dehydrogenase (LDH) Macrocytic anaemia +/- Thrombocytopenia +/- Deranged liver function Raised Lactate dehydrogenase (LDH) Features on blood film analysis Schistocytes (fragmented red cells Macrocytosis, poikilocytosis, neutrophil hypersegmentation Figure 1 – Blood film of a patient with HELLP syndrome showing signs of red cell fragmentation Figure 2 – Blood film of a patient with megaloblastic anaemia showing neutrophil hypersegmentation Treatment was conservative with replacement of B12 and folate. Symptomatic anaemia was corrected with red cell transfusion. Improvement was seen on blood film from Day 5 and by Day 10 haemoglobin and platelet count had recovered within the normal range. Pregnancy subsequently progressed to an uneventful delivery at 39 weeks. DISCUSSION We demonstrate a case of severe megaloblastic anaemia accompanied by thrombocytopenia, abnormal liver enzymes and raised LDH mimicking HELLP syndrome. The distinguishing factors include the absence of hypertension and proteinuria, but atypical presentation of HELLP without either features have been reported 5 . Macrocytosis was a clue towards B12/folate deficiency which was confirmed by further investigations. In addition involvement of haematology specialists and analysis of the blood film confirmed the diagnosis. Accurate diagnosis and appropriate management avoided a high risk preterm delivery in the presence of low platelets with good maternal and fetal outcome. Although severe B12/folate deficiency resulting in megaloblastic crisis is rare in developed countries this case helps to highlight the importance of this diagnosis and its differences in management from HELLP syndrome. REFERENCES 1) S. Walker, P Wein & B Ihle. Severe folate deficiency masquerading as the syndrome of haemolysis, elevated liver enzymes, and low platelets. Obstetrics and Gynaecology 1997;Vol. 90, No.4 Part 2:655-6 2) Van de Velde et al.Folate and Vitamin B12 Deficiency presenting as pancytopenia in pregnancy. European Journal of Obstetrics and Gynaecology and Reproductive Biology 2002;100: 251-254 3) S. Papaionnou, J. Davies, I. Grant & E. Osei Folate deficiency in pregnancy presenting as acute megaloblastic crisis. 2002; Vol. 20 4) R. Varma, R. Wallace & C. Barton. Successful outcome following preterm abruption complicated by pancytopenia secondary to folate deficiency: important learning points. Journal of Maternal - Fetal & Neonatal Medicine 2004;15:138 5) C. Stella et al. HELLP syndrome: an atypical presentation. American Journal of Obstetrics and Gynaecology 2008 May;185(5):e6-8 Table 1 – Comparing the clinical picture of HELLP and severe folate/vitamin B12 deficiency
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Figure 2 – Blood film of a patient with megaloblastic anaemia showing neutrophil hypersegmentation. Figure 1 – Blood film of a patient with HELLP syndrome showing signs of red cell fragmentation. - PowerPoint PPT Presentation
Transcript of CASE SUMMARY BACKGROUND
Megaloblastic anaemia mimicking as HELLP syndromeK.Ma1, A. Khanapure1, D. Davies1, R. Corser2
1 – Department of Obstetrics, Queen Alexandra Hospital, Portsmouth 2- Department of Haematology, Queen Alexandra Hospital, Portsmouth
CASE SUMMARY
BACKGROUND
Vitamin B12 and folate requirements are increased in pregnancy and deficiency is common, complicating up to 30% of all pregnancies1. However severe deficiency leading to megaloblastic crisis is rare. The resulting clinical picture of haemolytic anaemia, thrombocytopenia and mildly raised liver enzymes may be misinterpreted as the syndrome of HELLP (haemolysis, elevated liver enzymes and thrombocytopenia)2,3,4 associated with pre-eclampsia.
CASE SUMMARY
A 21 year old woman, Gravida 3 Para 1 (previous caesarean section), presented at 34 weeks gestation with 14 days history of nausea, vomiting, blurred vision, intermittent abdominal pain and severe bilateral leg cramps.
Blood pressure was within normal limits, proteinuria was absent and CTG was normal. Blood tests revealed macrocytic anaemia (Hb6.4g/dL, MCV 104.2ft), thrombocytopenia (platelet count 63x109/L), deranged liver function (AST 54iu/L) and possible haemolysis (LDH >2500iu/L).
There was initial debate whether the diagnosis was atypical presentation of HELLP syndrome or severe B12 deficiency and the potential need of pre-term delivery in the presence of low platelets if the diagnosis was HELLP syndrome. Subsequently vitamin B12 and folate levels were found to be low (B12 93ng/L, Folate 1.2ng/L) and blood film analysis revealed features pathognomonic of vitamin B12 deficiency including poikilocytosis and neutrophil hypersegmentation. This confirmed the diagnosis of megaloblastic crisis secondary to severe folate/B12 deficiency.
Pre-eclampsia complicated by HELLP syndrome
Severe Folate +Vitamin B12
deficiencySymptoms Headaches, visual
disturbances, oedema, upper abdominal pain
Headaches, limb weakness, nausea,
constipationSigns Raised blood pressure
Proteinuria
+/- Hyper-reflexia, papilloedema
Normotensive, no proteinuria
+/- Signs of peripheral
neuropathyHaematologic
al / Biochemical
changes
Normocytic anaemia
Thrombocytopenia
Deranged liver function
Raised Lactate dehydrogenase (LDH)
Macrocytic anaemia
+/- Thrombocytopenia
+/- Deranged liver function
Raised Lactate dehydrogenase
(LDH)Features on blood film analysis
Schistocytes (fragmented red cells
Macrocytosis, poikilocytosis,
neutrophil hypersegmentation
Figure 1 – Blood film of a patient with HELLP syndrome showing signs of red cell fragmentation
Figure 2 – Blood film of a patient with megaloblastic anaemia showing neutrophil hypersegmentation
Treatment was conservative with replacement of B12 and folate. Symptomatic anaemia was corrected with red cell transfusion. Improvement was seen on blood film from Day 5 and by Day 10 haemoglobin and platelet count had recovered within the normal range. Pregnancy subsequently progressed to an uneventful delivery at 39 weeks.
DISCUSSION
We demonstrate a case of severe megaloblastic anaemia accompanied by thrombocytopenia, abnormal liver enzymes and raised LDH mimicking HELLP syndrome.
The distinguishing factors include the absence of hypertension and proteinuria, but atypical presentation of HELLP without either features have been reported5. Macrocytosis was a clue towards B12/folate deficiency which was confirmed by further investigations. In addition involvement of haematology specialists and analysis of the blood film confirmed the diagnosis. Accurate diagnosis and appropriate management avoided a high risk preterm delivery in the presence of low platelets with good maternal and fetal outcome.
Although severe B12/folate deficiency resulting in megaloblastic crisis is rare in developed countries this case helps to highlight the importance of this diagnosis and its differences in management from HELLP syndrome.
REFERENCES1) S. Walker, P Wein & B Ihle. Severe folate deficiency masquerading as the syndrome of
haemolysis, elevated liver enzymes, and low platelets. Obstetrics and Gynaecology 1997;Vol. 90, No.4 Part 2:655-6
2) Van de Velde et al.Folate and Vitamin B12 Deficiency presenting as pancytopenia in pregnancy. European Journal of Obstetrics and Gynaecology and Reproductive Biology 2002;100: 251-254
3) S. Papaionnou, J. Davies, I. Grant & E. Osei Folate deficiency in pregnancy presenting as acute megaloblastic crisis. 2002; Vol. 20
4) R. Varma, R. Wallace & C. Barton. Successful outcome following preterm abruption complicated by pancytopenia secondary to folate deficiency: important learning points. Journal of Maternal - Fetal & Neonatal Medicine 2004;15:138
5) C. Stella et al. HELLP syndrome: an atypical presentation. American Journal of Obstetrics and Gynaecology 2008 May;185(5):e6-8
Table 1 – Comparing the clinical picture of HELLP and severe folate/vitamin B12 deficiency
