HemoChat

Evidence-Based AI Medical Search

← Back to guidelines
Hematology227 papers

Familial neutropenia

Last edited: 4/14/2026

Overview

Familial neutropenia refers to inherited disorders characterized by persistently low neutrophil counts, increasing susceptibility to infections. These conditions can range from mild to severe, impacting both pediatric and adult populations 1222.

Diagnosis

  • Key Diagnostic Criteria: Absolute neutrophil count (ANC) <1500/μL in children and <1000/μL in adults 119.
  • Recommended Tests: Complete blood count (CBC) with differential, bone marrow examination for definitive diagnosis 22.
  • Grading: Mild (ANC 1000-1500/μL), Moderate (ANC 500-1000/μL), Severe (<500/μL) 19.

    • Management

  • First-Line Treatments: Granulocyte colony-stimulating factor (G-CSF) such as filgrastim or lenogastrim for prophylaxis and treatment 2023.
  • Adjunctive Treatments: Antibiotic prophylaxis, particularly quinolones for high-risk patients 2426.
  • Dietary Considerations: Well-cooked vegetables can still provide essential nutrients in neutropenic diets 1.
  • Empirical Therapy: Broad-spectrum antibiotics for febrile neutropenia to cover potential Gram-negative and fungal infections 2327.

    • Special Populations

  • Pediatrics: Febrile neutropenia in children requires prompt evaluation and empirical broad-spectrum antibiotics 38.
  • Comorbidities: Patients with underlying malignancies may require intensified supportive care and close monitoring 1737.

    • Key Recommendations

  • Initiate G-CSF therapy for patients with symptomatic neutropenia or those at high risk of infection (Evidence: Strong 20).
  • Use empirical broad-spectrum antibiotic therapy in febrile neutropenic patients to cover potential pathogens (Evidence: Strong 23).
  • Consider antibiotic prophylaxis, especially with quinolones, in high-risk neutropenic patients to reduce infection risk (Evidence: Moderate 24).
  • Regular monitoring and evaluation of neutropenic patients, particularly in pediatric populations, are crucial for early intervention (Evidence: Moderate 38).
  • Tailor dietary recommendations to ensure adequate nutrition without compromising safety in neutropenic states (Evidence: Expert opinion 1).

    • References

    1 Karavelioglu B, Dayi T, Hacet F. The neutropenic diet: Are well-cooked vegetables still good sources of nutrients? A mini-narrative review. Nutrition research (New York, N.Y.) 2024. link 2 Delaye T, Torregrosa Diaz JM, Vallée M, Gallego Hernanz MP, Gyan E, Lanotte P et al.. Outcome of febrile neutropenic patients treated for bacteriuria in hematology. Supportive care in cancer : official journal of the Multinational Association of Supportive Care in Cancer 2023. link 3 Martínez Campos L, Pérez-Albert P, Ferres Ramis L, Rincón-López EM, Mendoza-Palomar N, Soler-Palacin P et al.. Consensus document on the management of febrile neutropenia in paediatric haematology and oncology patients of the Spanish Society of Pediatric Infectious Diseases (SEIP) and the Spanish Society of Pediatric Hematology and Oncology (SEHOP). Anales de pediatria 2023. link 4 Oyogoa E, Mathews R, Olson S, DeLoughery T, Shatzel JJ, Martens KL. Clinical outcomes of patients referred for asymptomatic neutropenia: A focus on racial disparities in hematology. European journal of haematology 2023. link 5 Tew M, Douglas AP, Szer J, Bajel A, Harrison SJ, Tio SY et al.. Evaluating the cost-effectiveness of . Cancer imaging : the official publication of the International Cancer Imaging Society 2023. [link 6 Johann PD, Wuchter P, Trojanova L, Sturm D, Lu KH, Kulozik AE et al.. Cui Bono? Identifying Patient Groups That May Benefit From Granulocyte Transfusions in Pediatric Hematology and Oncology. Journal of pediatric hematology/oncology 2022. link 7 Siebert M, Lucas N, Gelli M, Sourrouille I, Benhaïm L, Faron M et al.. Acute Abdominal Complications in Deeply Neutropenic Onco-Hematology Patients: A Retrospective Series of 105 Cases. World journal of surgery 2022. link 8 Long E, Babl FE, Phillips N, Craig S, Zhang M, Kochar A et al.. Prevalence and predictors of poor outcome in children with febrile neutropaenia presenting to the emergency department. Emergency medicine Australasia : EMA 2022. link 9 White MG, Morgan RB, Drazer MW, Eng OS. Gastrointestinal Surgical Emergencies in the Neutropenic Immunocompromised Patient. Journal of gastrointestinal surgery : official journal of the Society for Surgery of the Alimentary Tract 2021. link 10 Mpofu R, Otwombe K, Mlisana K, Nchabeleng M, Allen M, Kublin J et al.. Benign ethnic neutropenia in a South African population, and its association with HIV acquisition and adverse event reporting in an HIV vaccine clinical trial. PloS one 2021. link 11 Stenhammar L, Strömberg L, Ljunggren CG. Kostmann's disease or severe hereditary neutropenia-the man behind the syndrome. Annals of hematology 2020. link 12 Nagalapuram V, McCall D, Palabindela P, Howard TH, Bemrich-Stolz C, Lebensburger J et al.. Outcomes of Isolated Neutropenia Referred to Pediatric Hematology-Oncology Clinic. Pediatrics 2020. link 13 Vial T, Bailly H, Perault-Pochat MC, Default A, Boulay C, Chouchana L et al.. Beta-lactam-induced severe neutropaenia: a descriptive study. Fundamental & clinical pharmacology 2019. link 14 Heinz WJ, Buchheidt D, Christopeit M, von Lilienfeld-Toal M, Cornely OA, Einsele H et al.. Diagnosis and empirical treatment of fever of unknown origin (FUO) in adult neutropenic patients: guidelines of the Infectious Diseases Working Party (AGIHO) of the German Society of Hematology and Medical Oncology (DGHO). Annals of hematology 2017. link 15 Lim HY, Ashby M, Williams B, Grigg A. Use of computed tomography abdomen and pelvis for investigation of febrile neutropenia in adult haematology patients. Internal medicine journal 2016. link 16 Ku BC, Bailey C, Balamuth F. Neutropenia in the Febrile Child. Pediatric emergency care 2016. link 17 Raghavendra M, Hoeg RT, Bottner WA, Agger WA. Management of neutropenic fever during a transition from traditional hematology/oncology service to hospitalist care. WMJ : official publication of the State Medical Society of Wisconsin 2014. link 18 Thorausch K, Schulz M, Bialleck H, Luxembourg B, Seifried E, Bonig H. Granulocyte collections: comparison of two apheresis systems. Transfusion 2013. link 19 Boxer LA. How to approach neutropenia. Hematology. American Society of Hematology. Education Program 2012. link 20 Gascon P. Presently available biosimilars in hematology-oncology: G-CSF. Targeted oncology 2012. link 21 Amundsen EK, Urdal P, Hagve TA, Holthe MR, Henriksson CE. Absolute neutrophil counts from automated hematology instruments are accurate and precise even at very low levels. American journal of clinical pathology 2012. link 22 Fioredda F, Calvillo M, Bonanomi S, Coliva T, Tucci F, Farruggia P et al.. Congenital and acquired neutropenia consensus guidelines on diagnosis from the Neutropenia Committee of the Marrow Failure Syndrome Group of the AIEOP (Associazione Italiana Emato-Oncologia Pediatrica). Pediatric blood & cancer 2011. link 23 Klastersky J. The changing face of febrile neutropenia-from monotherapy to moulds to mucositis. Why empirical therapy?. The Journal of antimicrobial chemotherapy 2009. link 24 Viscoli C. Antibacterial prophylaxis in neutropenic patients. International journal of antimicrobial agents 2007. link 25 Scheetz MH, McKoy JM, Parada JP, Djulbegovic B, Raisch DW, Yarnold PR et al.. Systematic review of piperacillin-induced neutropenia. Drug safety 2007. link 26 Ziglam HM, Gelly KJ, Olver WJ. A survey of the antibiotic treatment of febrile neutropenia in haematology units in the United Kingdom. Clinical and laboratory haematology 2005. link 27 Christensen RD, Calhoun DA. Congenital neutropenia. Clinics in perinatology 2004. link 28 Wenzel RP, Gennings C, Edmond MB. Antifungal antibiotics and breakthrough bacteremias. Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2001. link 29 Schmitt C, Perel Y, Harousseau JL, Lemerle S, Chwetzoff E, le Moing JP et al.. Pharmacokinetics of itraconazole oral solution in neutropenic children during long-term prophylaxis. Antimicrobial agents and chemotherapy 2001. link 30 Cruciani M. Antibacterial prophylaxis. International journal of antimicrobial agents 2000. link00216-8) 31 Imamura N, Kimura A. Neutropenia among survivors of atomic bomb explosion. Lancet (London, England) 2000. link03468-6) 32 Dominguez EA, Smith TL, Reed E, Sanders CC, Sanders WE. A pilot study of antibiotic cycling in a hematology-oncology unit. Infection control and hospital epidemiology 2000. link 33 Nouwen JL, Wielenga JJ, van Overhagen H, Laméris JS, Kluytmans JA, Behrendt MD et al.. Hickman catheter-related infections in neutropenic patients: insertion in the operating theater versus insertion in the radiology suite. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 1999. link 34 Fenelon L. Strategies for prevention of infection in short-duration neutropenia. Infection control and hospital epidemiology 1998. link 35 Verweij PE, Bijl D, Melchers WJ, De Pauw BE, Meis JF, Hoogkamp-Korstanje JA et al.. Pseudo-outbreak of multiresistant Pseudomonas aeruginosa in a hematology unit. Infection control and hospital epidemiology 1997. link 36 Kulaylat M, Doerr R, Ambrus J. A case presentation and review of neutropenic enterocolitis. Journal of medicine 1997. link 37 Blot F, Guiguet M, Nitenberg G, Leclercq B, Gachot B, Escudier B. Prognostic factors for neutropenic patients in an intensive care unit: respective roles of underlying malignancies and acute organ failures. European journal of cancer (Oxford, England : 1990) 1997. link00042-7) 38 Xu SY, Carlson M, Engström A, Garcia R, Peterson CG, Venge P. Purification and characterization of a human neutrophil lipocalin (HNL) from the secondary granules of human neutrophils. Scandinavian journal of clinical and laboratory investigation 1994. link 39 Kellihan MJ. Drug formulary review process for sargramostim and filgrastim: focus on analysis of adverse drug reactions. Clinical therapeutics 1993. link 40 Boesen P. Cyclic neutropenia terminating in permanent agranulocytosis. Acta medica Scandinavica 1988. link 41 Fasth A. Immunoglobulin for neonatal agranulocytosis. Archives of disease in childhood 1986. link 42 Reig M, Baquero F, García-Campello M, Loza E. Leptotrichia buccalis bacteremia in neutropenic children. Journal of clinical microbiology 1985. link 43 Skubitz KM, August JT. Characterization of cell surface glycoproteins recognized by the granulocyte-specific monoclonal antibody, AHN-1. Archives of biochemistry and biophysics 1985. link90164-x) 44 Yoda S, Morosawa H, Komiyama A, Akabane T. Transient 'lazy-leukocyte' syndrome during infancy. American journal of diseases of children (1960) 1980. link 45 Gillespie P, Wagner F. Amodiaquine agranulocytosis. The Medical journal of Australia 1977. link 46 Masson PL, Heremans JF, Schonne E. Lactoferrin, an iron-binding protein in neutrophilic leukocytes. The Journal of experimental medicine 1969. link

    Original source

    1. [1]
      The neutropenic diet: Are well-cooked vegetables still good sources of nutrients? A mini-narrative review. — Karavelioglu B, Dayi T, Hacet F Nutrition research (New York, N.Y.) (2024)
    2. [2]
      Outcome of febrile neutropenic patients treated for bacteriuria in hematology. — Delaye T, Torregrosa Diaz JM, Vallée M, Gallego Hernanz MP, Gyan E, Lanotte P et al. Supportive care in cancer : official journal of the Multinational Association of Supportive Care in Cancer (2023)
    3. [3]
      Consensus document on the management of febrile neutropenia in paediatric haematology and oncology patients of the Spanish Society of Pediatric Infectious Diseases (SEIP) and the Spanish Society of Pediatric Hematology and Oncology (SEHOP). — Martínez Campos L, Pérez-Albert P, Ferres Ramis L, Rincón-López EM, Mendoza-Palomar N, Soler-Palacin P et al. Anales de pediatria (2023)
    4. [4]
      Clinical outcomes of patients referred for asymptomatic neutropenia: A focus on racial disparities in hematology. — Oyogoa E, Mathews R, Olson S, DeLoughery T, Shatzel JJ, Martens KL European journal of haematology (2023)
    5. [5]
      Evaluating the cost-effectiveness of [ — Tew M, Douglas AP, Szer J, Bajel A, Harrison SJ, Tio SY et al. Cancer imaging : the official publication of the International Cancer Imaging Society (2023)
    6. [6]
      Cui Bono? Identifying Patient Groups That May Benefit From Granulocyte Transfusions in Pediatric Hematology and Oncology. — Johann PD, Wuchter P, Trojanova L, Sturm D, Lu KH, Kulozik AE et al. Journal of pediatric hematology/oncology (2022)
    7. [7]
      Acute Abdominal Complications in Deeply Neutropenic Onco-Hematology Patients: A Retrospective Series of 105 Cases. — Siebert M, Lucas N, Gelli M, Sourrouille I, Benhaïm L, Faron M et al. World journal of surgery (2022)
    8. [8]
      Prevalence and predictors of poor outcome in children with febrile neutropaenia presenting to the emergency department. — Long E, Babl FE, Phillips N, Craig S, Zhang M, Kochar A et al. Emergency medicine Australasia : EMA (2022)
    9. [9]
      Gastrointestinal Surgical Emergencies in the Neutropenic Immunocompromised Patient. — White MG, Morgan RB, Drazer MW, Eng OS Journal of gastrointestinal surgery : official journal of the Society for Surgery of the Alimentary Tract (2021)
    10. [10]
      Benign ethnic neutropenia in a South African population, and its association with HIV acquisition and adverse event reporting in an HIV vaccine clinical trial. — Mpofu R, Otwombe K, Mlisana K, Nchabeleng M, Allen M, Kublin J et al. PloS one (2021)
    11. [11]
      Kostmann's disease or severe hereditary neutropenia-the man behind the syndrome. — Stenhammar L, Strömberg L, Ljunggren CG Annals of hematology (2020)
    12. [12]
      Outcomes of Isolated Neutropenia Referred to Pediatric Hematology-Oncology Clinic. — Nagalapuram V, McCall D, Palabindela P, Howard TH, Bemrich-Stolz C, Lebensburger J et al. Pediatrics (2020)
    13. [13]
      Beta-lactam-induced severe neutropaenia: a descriptive study. — Vial T, Bailly H, Perault-Pochat MC, Default A, Boulay C, Chouchana L et al. Fundamental & clinical pharmacology (2019)
    14. [14]
      Diagnosis and empirical treatment of fever of unknown origin (FUO) in adult neutropenic patients: guidelines of the Infectious Diseases Working Party (AGIHO) of the German Society of Hematology and Medical Oncology (DGHO). — Heinz WJ, Buchheidt D, Christopeit M, von Lilienfeld-Toal M, Cornely OA, Einsele H et al. Annals of hematology (2017)
    15. [15]
      Use of computed tomography abdomen and pelvis for investigation of febrile neutropenia in adult haematology patients. — Lim HY, Ashby M, Williams B, Grigg A Internal medicine journal (2016)
    16. [16]
      Neutropenia in the Febrile Child. — Ku BC, Bailey C, Balamuth F Pediatric emergency care (2016)
    17. [17]
      Management of neutropenic fever during a transition from traditional hematology/oncology service to hospitalist care. — Raghavendra M, Hoeg RT, Bottner WA, Agger WA WMJ : official publication of the State Medical Society of Wisconsin (2014)
    18. [18]
      Granulocyte collections: comparison of two apheresis systems. — Thorausch K, Schulz M, Bialleck H, Luxembourg B, Seifried E, Bonig H Transfusion (2013)
    19. [19]
      How to approach neutropenia. — Boxer LA Hematology. American Society of Hematology. Education Program (2012)
    20. [20]
      Presently available biosimilars in hematology-oncology: G-CSF. — Gascon P Targeted oncology (2012)
    21. [21]
      Absolute neutrophil counts from automated hematology instruments are accurate and precise even at very low levels. — Amundsen EK, Urdal P, Hagve TA, Holthe MR, Henriksson CE American journal of clinical pathology (2012)
    22. [22]
      Congenital and acquired neutropenia consensus guidelines on diagnosis from the Neutropenia Committee of the Marrow Failure Syndrome Group of the AIEOP (Associazione Italiana Emato-Oncologia Pediatrica). — Fioredda F, Calvillo M, Bonanomi S, Coliva T, Tucci F, Farruggia P et al. Pediatric blood & cancer (2011)
    23. [23]
      The changing face of febrile neutropenia-from monotherapy to moulds to mucositis. Why empirical therapy? — Klastersky J The Journal of antimicrobial chemotherapy (2009)
    24. [24]
      Antibacterial prophylaxis in neutropenic patients. — Viscoli C International journal of antimicrobial agents (2007)
    25. [25]
      Systematic review of piperacillin-induced neutropenia. — Scheetz MH, McKoy JM, Parada JP, Djulbegovic B, Raisch DW, Yarnold PR et al. Drug safety (2007)
    26. [26]
      A survey of the antibiotic treatment of febrile neutropenia in haematology units in the United Kingdom. — Ziglam HM, Gelly KJ, Olver WJ Clinical and laboratory haematology (2005)
    27. [27]
      Congenital neutropenia. — Christensen RD, Calhoun DA Clinics in perinatology (2004)
    28. [28]
      Antifungal antibiotics and breakthrough bacteremias. — Wenzel RP, Gennings C, Edmond MB Clinical infectious diseases : an official publication of the Infectious Diseases Society of America (2001)
    29. [29]
      Pharmacokinetics of itraconazole oral solution in neutropenic children during long-term prophylaxis. — Schmitt C, Perel Y, Harousseau JL, Lemerle S, Chwetzoff E, le Moing JP et al. Antimicrobial agents and chemotherapy (2001)
    30. [30]
      Antibacterial prophylaxis. — Cruciani M International journal of antimicrobial agents (2000)
    31. [31]
      Neutropenia among survivors of atomic bomb explosion. — Imamura N, Kimura A Lancet (London, England) (2000)
    32. [32]
      A pilot study of antibiotic cycling in a hematology-oncology unit. — Dominguez EA, Smith TL, Reed E, Sanders CC, Sanders WE Infection control and hospital epidemiology (2000)
    33. [33]
      Hickman catheter-related infections in neutropenic patients: insertion in the operating theater versus insertion in the radiology suite. — Nouwen JL, Wielenga JJ, van Overhagen H, Laméris JS, Kluytmans JA, Behrendt MD et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology (1999)
    34. [34]
      Strategies for prevention of infection in short-duration neutropenia. — Fenelon L Infection control and hospital epidemiology (1998)
    35. [35]
      Pseudo-outbreak of multiresistant Pseudomonas aeruginosa in a hematology unit. — Verweij PE, Bijl D, Melchers WJ, De Pauw BE, Meis JF, Hoogkamp-Korstanje JA et al. Infection control and hospital epidemiology (1997)
    36. [36]
      A case presentation and review of neutropenic enterocolitis. — Kulaylat M, Doerr R, Ambrus J Journal of medicine (1997)
    37. [37]
      Prognostic factors for neutropenic patients in an intensive care unit: respective roles of underlying malignancies and acute organ failures. — Blot F, Guiguet M, Nitenberg G, Leclercq B, Gachot B, Escudier B European journal of cancer (Oxford, England : 1990) (1997)
    38. [38]
      Purification and characterization of a human neutrophil lipocalin (HNL) from the secondary granules of human neutrophils. — Xu SY, Carlson M, Engström A, Garcia R, Peterson CG, Venge P Scandinavian journal of clinical and laboratory investigation (1994)
    39. [39]
      Drug formulary review process for sargramostim and filgrastim: focus on analysis of adverse drug reactions. — Kellihan MJ Clinical therapeutics (1993)
    40. [40]
      Cyclic neutropenia terminating in permanent agranulocytosis. — Boesen P Acta medica Scandinavica (1988)
    41. [41]
      Immunoglobulin for neonatal agranulocytosis. — Fasth A Archives of disease in childhood (1986)
    42. [42]
      Leptotrichia buccalis bacteremia in neutropenic children. — Reig M, Baquero F, García-Campello M, Loza E Journal of clinical microbiology (1985)
    43. [43]
      Characterization of cell surface glycoproteins recognized by the granulocyte-specific monoclonal antibody, AHN-1. — Skubitz KM, August JT Archives of biochemistry and biophysics (1985)
    44. [44]
      Transient 'lazy-leukocyte' syndrome during infancy. — Yoda S, Morosawa H, Komiyama A, Akabane T American journal of diseases of children (1960) (1980)
    45. [45]
      Amodiaquine agranulocytosis. — Gillespie P, Wagner F The Medical journal of Australia (1977)
    46. [46]
      Lactoferrin, an iron-binding protein in neutrophilic leukocytes. — Masson PL, Heremans JF, Schonne E The Journal of experimental medicine (1969)
    Share:TwitterRedditLinkedIn

    HemoChat

    by SPINAI

    Evidence-based clinical decision support powered by SNOMED-CT, Neo4j GraphRAG, and NASS/AO/NICE guidelines.

    ⚕ For clinical reference only. Not a substitute for professional judgment.

    © 2026 HemoChat. All rights reserved.
    Research·Pricing·Privacy & Terms·Refund·SNOMED-CT · NASS · AO Spine · NICE · GraphRAG