LATE ONSET PRIMARY HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS in AN INDIAN ADOLESCENT BOY during A PEAK of POST COVID-19 MULTISYSTEM INFLAMMATORY SYNDROME
Annals of the Rheumatic Diseases
; 81:1736, 2022.
Artigo
em Inglês
| EMBASE | ID: covidwho-2009026
ABSTRACT
Background:
Familial Hemophagocytic lymphohistiocytosis (fHLH) categorized as FHL2 (PRF1), FHL3 (UNC13D), FHL4 (STX11), and FHL5 (STXBP2) encoding for Perforin, Munc13-4, Syntaxin11, and Syntaxin binding protein 2, respectively. There is limited information available about the clinical and mutational spectrum of FHL patients in Indian population.Objectives:
To delineate clinical and laboratory features of late onset familial Hemophagocytic Lymphohistiocytosis.Methods:
A 12-years-old well nourished sick looking boy, born to a non-consanguineous parents with normal birth, development and immunization history with uneventful past presented to us with 6 days history of high fever, cough, breathing difficulty and severe headache. He had occasional vomiting, abdominal pain, polyarthragia & chest pain from last 10 days. Mother also had given history of throat pain, backache & some non-specifc papular rashes over face before the onset of fever. His vitals were normal. Examination revealed faint diffuse fxed erythematous rash all over the body, pallor, icterus and hepatos-plenomegaly. Musculoskeletal examination was unremarkable. Lab evaluation revealed HB 8.9gm%, TLC 4700/cumm with neutrophils 40% and lymphocytes 56% with 8-9% activated lympocytes. Further evaluation showed low ESR 6mm/hr, fbrinogen 97mg% and albumin 2.2 gm% with elevated CRP 40mg/L, ferritin 2000ng/ml, LDH 658IU/L, SGPT 110IU/L, SGOT 221 IU/L, total bilirubin 6mg%, D-dimer 4355 ngEFU/ml and Triglycerides 441mg%. His blood, urine, CSF and bone marrow cultures were sterile for endemic bacterial and viral infections in our area. His EBV PCR, CoVID RT PCR and CoVID antibody (Total & IgG) test were negative. His immunoglobulin leves were normal. HRCT Chest showed bilateral mild-moderate plural effusions, mild interstitial thickening in both the lower lobes, few fbrotic opacities & old areas of consolidation bilaterally. 2D echo showed mild pericardial effusion. Bone marrow examination showed Hypercellular marrow with iron depletion and occasional hemophagocytosis with CD8 T lymphocytes proliferation (55.2%) and double positive CD4 & CD8 (1.2%). He was initially commenced on supportive therapy, oxygen & intravenous antibiotics. In view of most probable non-infectious, non-malignant hemophagocytic lymphohistiocytosis, he was fnally given intravenous immunoglobulin (2gm/kg) and intravenous pulse methylprednisolone (30mg/kg). He responded well to above regimen within 3 days. He was discharged with tapering steroids over few weeks. Clinical exome by NGS revealed Homozygous Mutation in STXBP2 gene Intron 14, c.1280-1G>C (3' Splice Site) His parents has been counselled for hematopoietic stem cell transplantation and their decision is still pending.Results:
We compared our patietnt with a reference to the largest Indian series of pediatric HLH1.Conclusion:
Primary HLH type 5 can present frst time during childhood and adolescence. Any child presenting with unexplained HLH features should undergo genetic analysis irrespective of person's past and family history.
albumin; antibiotic agent; aspartate aminotransferase; bilirubin; CD4 antigen; CD8 antigen; D dimer; endogenous compound; ferritin; human immunoglobulin; immunoglobulin; immunoglobulin G; methylprednisolone; oxygen; silibinin; triacylglycerol; abdominal pain; adolescence; adolescent; alanine aminotransferase blood level; backache; bacterial infection; bone marrow; bone marrow culture; bone marrow examination; cerebrospinal fluid; child; childhood; conference abstract; controlled study; coronavirus disease 2019; coughing; drug therapy; dyspnea; erythema; erythrophagocytosis; exome; family history; female; fever; gene frequency; gene mutation; genetic analysis; genetic association; headache; hematopoietic stem cell transplantation; hemophagocytic syndrome; homozygosity; human; human cell; human tissue; immunization; Indian; intravenous drug administration; intron; iron depletion; jaundice; lymphocyte; lymphocyte proliferation; male; neutrophil; pallor; papular rash; pericardial effusion; school child; sore throat; surgery; systemic inflammatory response syndrome; T lymphocyte; thorax pain; two dimensional echocardiography; vomiting
Texto completo:
Disponível
Coleções:
Bases de dados de organismos internacionais
Base de dados:
EMBASE
Tópicos:
Covid persistente
Idioma:
Inglês
Revista:
Annals of the Rheumatic Diseases
Ano de publicação:
2022
Tipo de documento:
Artigo
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