Nov 30, 2018
Volume 9 issue 2 November 2018
I hope you have enjoyed Diwali with family, friends and less noise pollution!In India we always look forward to so many festivals and events as opposed to western countries where only Christmas and Easter are celebrated in a big way! This was one of the reasons for meto come back from UK.
I bring to you one case where I was involved unfortunately late.
55 year old female presented to her general practioner with abdominal pain for 2 weeks with intermittent response to antacids and baclofen. She then saw her physician who noticed no new clinical findings apart from splenomegaly and hence ordered an ultrasound.The USG showed splenomegaly 20 cm with 2 areas of ?abscess or infarction in splenic periphery. CT scan was done which confirmed the USG findings with no lymphadenopathy. She was started on IV antibiotics after admission for 7 days with no major change in her clinical presentation.
Initial investigations: CBC: Hb: 15.9, wbc: 19,200 (80% neutrophils), platelets were 6.91 lakhs. LFT and creatinine were normal. ESR was 48 mm at end of 1 hour.
Further course:She was then given another course of IV antibiotics for 5 days (linezolid) with no change in splenic lesions. Tumor markers were done which were negative. She was then referred to a surgeon in a superspeciality hospital (she had cashless insurance!) who decided to do splenectomy as the ultimate treatment option. It was done and the post operative period was uneventful.
Post operative course: She complained of slight giddiness and heavy headed 2 weeks later. She went to her GP who happened to be her distant relative also. CBC was done which showed Hb: 15.7 wbc: 46,200 and platelets of 16.20 lakhs! No hepatomegaly or signs of stroke were observed. It was thought to be sepsis and hence again antibiotics were given. After 1 week the counts did not change much and hence she was referred to me by her GP.
After going through her case history and her presenting counts I had following unanswered questions:
- Why did she have splenic infarcts?
- Why did she have splenomegaly in first place?
- Why her initial wbc and platelets (also her Hb was slightly on higher side) were high (pre operatively)?
- Why did she undergo splenectomy?
- Why her wbc and platelets shoot up after splenectomy?
What is the unifying diagnosis?If we try and answer all the above questions chronologically we can reach a diagnosis.
Diagnosis: JAK 2 positive Myeloproliferative disorder (polycythemia vera)
Question 1: splenic infarcts are due to vascular occlusion and can be micro-vascular hence may not be seen on radiological investigations.
Question 2: Splenomegaly suggests either infiltration or over activity.
Question 3: High Hb with high wbc and platelets should alert us of myelo-proliferative disorder (not malignancy but a marrow disease with increased production).
So she underwent a bone marrow examination with a molecular test called JAK2 mutation analysis. It was positive.JAK2 is a gene which controls cell production in bone marrow and when it is “Mutated” it leads to uncontrolled cell production called “ Myelo-proliferative disorder” in scientific term.
Question 4 and 5: Unfortunately splenectomy is not the answer for this problem and post splenectomy there is no “ storage” left for excessive WBC and platelets hence their number go up post surgery. This can lead to stroke and ischemic heart disease (our patient had giddiness). Post splenectomy the liver enlarges and leads to hepatomegaly as the extra cells need some “space” in the body to settle.
Treatment given: She was started on hydroxyurea and anti platelet therapy and her wbc and platelets came down. She will need this therapy life long. We could have started this at the initial presentation if the diagnosis would have made earlier prior to splenectomy. A new drug called “ Jakavi” is now available to treat such patients who have JAK2 positivity.
Take home message:
- Any splenomegaly needs investigations and “blind” splenectomy should be avoided.
- Any leukocytosis need to have an underlying cause and we should not presume it to be secondary to infection.
- In any patient we need to “establish” a diagnosis before contemplating therapy otherwise it may lead to unnecessary treatment and may be medico-legal problems.