Molecular Diagnosis - An Indispensable Tool to Clinch the Diagnosis in Familial Haemophagocytic Lymphohistiocytosis ??? A Case Report with Review of Literature

Author(s): Nisha Bhaskar Meshramm1 , Rasika Uday Gadkari2 , Fatema Akbar Kamal3

Haemophagocytic Lympho-Histiocytosis (HLH) includes variety of life-endangering 
conditions caused due to defective immunity and represented as uncontrolled 
hyperinflammatory response. HLH is mostly instigated by infection. Familial form 
is due to genetic defects in cytotoxic T cells & natural killer cells. HLH mostly goes 
unrecognized, and hence has high morbidity and mortality. Prompt diagnosis is 
critical to ensue curative treatment. Diagnosis of familial Haemophagocytic 
Lymphohistiocytosis is ellusive due to variable presentation, coexistence with other 
diseases, & select availability of confirmatory tests. We present a case of a 3-yearold girl child, with organomegaly, fever and pancytopenia diagnosis could not be 
reached for a long period.