Poster Presentation Indian Ocean Rim Laboratory Haematology Congress 2019

Haemophagocytic Lymphohistiocytosis In Two Siblings: A Case Report In Sabah, East Malaysia (#59)

Mimi Azreen Abdullah 1 , Yee Ern Chua 1 , Intan Juliana Abd Hamid 2 , Hafizuddin Mohamed Fauzi 2
  1. Pathology And Transfusion Medicine Department, Sabah Women And Children Hospital, Kota Kinabalu, Malaysia
  2. Primary Immunodeficiency Diseases Group, Regenerative Medicine Cluster, Institut Perubatan Dan Pergigian Termaju (IPPT), Universiti Sains Malaysia, Kepala Batas, Malaysia

Primary haemophagocytic lymphohistiocytosis (HLH)  is a rare primary immunodeficiency disease (PID) disease which affects 1.2 per million children worldwide. It is an immune dysregulatory disorder that is characterised by uncontrolled proliferation and activities of histiocytes that may lead to death. It has several genes linked to it, and many associated conditions may trigger the disease. We reported two siblings from a consanguineous marriage, presented at different time points over seven years apart. The diagnosis of HLH is made based on the fulfilment at least five out of eight diagnostic criteria in the HLH-2004 trial. The first sibling presented at two months old and the second sibling at one year old. Both share a similar presentation with fever, splenomegaly, cytopenia, high serum ferritin level, hypertriglyceridemia and hypofibrinogenemia. Marrow examination in the second child showed prominent haemophagocytic activities, but the first siblings did not have this feature. Both children treated for HLH with HLH Protocol 2004. However, the clinical conditions deteriorate fast, and both succumbed to the disease. As a lesson, a high index of suspicion for the diagnosis of HLH is crucial in those presented with a family history of HLH and consanguineous parent.  In future, it is recommended that molecular genetic sequencing performed for the family involved so that counselling on the future pregnancy can be done much earlier and tailored therapeutic intervention instituted.