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<p>Primary Hemophagocytic lymphohistiocytosis (HLH) typically presents in childhood but can rarely present later, often leading to a delay in appropriate therapy due to a low index of suspicion. This study describes the clinical features, genetic findings, and outcomes of older patients with primary HLH evaluated at our center. This retrospective study was conducted at a tertiary care centre in North India between 2018 and 2025. Patients aged 12 years and above with a diagnosis of possible primary HLH who underwent genetic screening were reviewed. A custom NGS panel was performed to screen seven genes: <i>PRF1</i>,<i> STX11</i>,<i> STXBP2</i>,<i> UNC13D</i>,<i> XIAP</i>,<i> SH2D1A</i>, and <i>RAB27A</i>. Patients with positive genetic mutations were included in the study. Twenty-six patients were screened, and 12 (46%) had positive genetic mutations. Nine patients had <i>PRF1</i> mutations, with six carrying the recurrent biallelic p.Thr450Met mutation. Two patients had a <i>RAB27A</i> mutation, and one patient had a <i>STXBP2</i> mutation. Perforin flow cytometric expression was markedly reduced in all patients with the <i>PRF1</i> mutation. All patients received high-dose steroids, but only five patients received HLH 2004 protocol-based therapy. None of the patients received an allogeneic transplant. The median follow-up for the patients was 8.5 months, and seven patients (58.3%) succumbed to their illness. Three patients remain on follow-up in remission, of whom two are on long-term cyclosporine maintenance while 2 patients were lost to follow-up. Primary HLH should be considered as a diagnosis in all adolescent and adult patients presenting with HLH without an identifiable cause.</p>

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Clinical Manifestations Genetic Profile and Outcomes of Adolescents and Adults with Primary Hemophagocytic Lymphohistiocytosis

  • 期刊论文

  • 发表日期：

    2026年2月23日

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  • Pooja Chauhan,
  • Charanpreet Singh,
  • Prateek Bhatia,
  • Saniya Sharma,
  • Aditya Jandial,
  • Arihant Jain,
  • Gaurav Prakash,
  • Alka Khadwal,
  • Amit Rawat,
  • Reena Das,
  • Pankaj Malhotra

摘要

Primary Hemophagocytic lymphohistiocytosis (HLH) typically presents in childhood but can rarely present later, often leading to a delay in appropriate therapy due to a low index of suspicion. This study describes the clinical features, genetic findings, and outcomes of older patients with primary HLH evaluated at our center. This retrospective study was conducted at a tertiary care centre in North India between 2018 and 2025. Patients aged 12 years and above with a diagnosis of possible primary HLH who underwent genetic screening were reviewed. A custom NGS panel was performed to screen seven genes: PRF1, STX11, STXBP2, UNC13D, XIAP, SH2D1A, and RAB27A. Patients with positive genetic mutations were included in the study. Twenty-six patients were screened, and 12 (46%) had positive genetic mutations. Nine patients had PRF1 mutations, with six carrying the recurrent biallelic p.Thr450Met mutation. Two patients had a RAB27A mutation, and one patient had a STXBP2 mutation. Perforin flow cytometric expression was markedly reduced in all patients with the PRF1 mutation. All patients received high-dose steroids, but only five patients received HLH 2004 protocol-based therapy. None of the patients received an allogeneic transplant. The median follow-up for the patients was 8.5 months, and seven patients (58.3%) succumbed to their illness. Three patients remain on follow-up in remission, of whom two are on long-term cyclosporine maintenance while 2 patients were lost to follow-up. Primary HLH should be considered as a diagnosis in all adolescent and adult patients presenting with HLH without an identifiable cause.