scholarly journals Dilemmas in the diagnosis and pathogenesis of atypical late‐onset familial haemophagocytic lymphohistiocytosis

2021 ◽  
Vol 10 (7) ◽  
Author(s):  
Adrian Minson ◽  
Ilia Voskoboinik ◽  
Andrew Grigg
Keyword(s):  
Late Onset ◽  
Haemophagocytic Lymphohistiocytosis ◽  
Familial Haemophagocytic Lymphohistiocytosis

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

2020 ◽  
Vol 7 (43) ◽  
pp. 2503-2507
Author(s):  
Nisha Bhaskar Meshramm ◽  
Rasika Uday Gadkari ◽  
Fatema Akbar Kamal
Keyword(s):  
Cytotoxic T Cells ◽  
High Morbidity ◽  
Haemophagocytic Lymphohistiocytosis ◽  
Girl Child ◽  
Familial Form ◽  
Confirmatory Tests ◽  
Indispensable Tool ◽  
Familial Haemophagocytic Lymphohistiocytosis ◽  
Variable Presentation ◽  
Prompt Diagnosis

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.

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