Causes, laboratory findings, and treatments of conditions associated with neutropenia
| Cause . | Mutations or laboratory recommendations . | Treatment . |
|---|---|---|
| Severe congenital neutropenia | ELANE, HAX1, other less-frequent mutations (G6PC3, CSF3R, GFI1, etc) | Lifelong G-CSF Surveillance for MDS/AML |
| Immunodeficiencies (Shwachman-Diamond syndrome, Chediak-Higashi syndrome, G6PD deficiency, cartilage-hair hypoplasia, GATA2 deficiency, primary humoral deficiencies) | SBDS CHS1 (LYST) G6PD RMRP GATA2 Many mutations | G-CSF if needed Surveillance for myeloid malignancy |
| Cyclic neutropenia | ELANE gene mutation | G-CSF if symptoms |
| Duffy-null associated neutrophil count (DANC) | Duffy antigen blood typing | No treatment required |
| Short telomere syndrome | Obtain telomere length | Surveillance for aplastic anemia, myeloid malignancy Counseling regarding pregnancy |
| Rheumatologic/autoimmune conditions (primary or secondary autoimmune, Felty syndrome [rheumatoid arthritis], Sjogren syndrome, inflammatory bowel disease, granulomatosis with polyangiitis) Autoimmune lymphoproliferative syndrome | ESR, CRP, antibodies as indicated by symptoms FAS, FASLG, CASP10 | Treat underlying cause |
| Medications/toxins (antibiotics such as sulfa drugs, phenothiazine, chemotherapy, rituximab, tyrosine kinase inhibitors, benzene, insecticides, azathioprine, mycophenolate mofetil) | Medication review, can check some drug levels; toxicology blood and urine testing | Drug discontinuation if severe |
| Infection | Hepatitis A, B, and C; HIV, EBV, bacteria, parasites, Rickettsia, tuberculosis | Treat underlying cause G-CSF for fever and neutropenia |
| Malignancy (aplastic anemia, leukemia, MDS, large granular lymphocytic leukemia, hairy cell; can present as pancytopenia) | Flow cytometry; bone marrow | Diagnosis-directed therapy G-CSF for fever and neutropenia |
| Nutritional (ask about diet [vegan] and alcohol consumption; can present as pancytopenia) | Vitamin B12, MMA, homocysteine, folate, copper | Replete nutritional deficiency |
| Chronic idiopathic neutropenia | Diagnosis of exclusion | No treatment required if no symptoms G-CSF for treatment of aphthous ulcers, frequent infections |
| Cause . | Mutations or laboratory recommendations . | Treatment . |
|---|---|---|
| Severe congenital neutropenia | ELANE, HAX1, other less-frequent mutations (G6PC3, CSF3R, GFI1, etc) | Lifelong G-CSF Surveillance for MDS/AML |
| Immunodeficiencies (Shwachman-Diamond syndrome, Chediak-Higashi syndrome, G6PD deficiency, cartilage-hair hypoplasia, GATA2 deficiency, primary humoral deficiencies) | SBDS CHS1 (LYST) G6PD RMRP GATA2 Many mutations | G-CSF if needed Surveillance for myeloid malignancy |
| Cyclic neutropenia | ELANE gene mutation | G-CSF if symptoms |
| Duffy-null associated neutrophil count (DANC) | Duffy antigen blood typing | No treatment required |
| Short telomere syndrome | Obtain telomere length | Surveillance for aplastic anemia, myeloid malignancy Counseling regarding pregnancy |
| Rheumatologic/autoimmune conditions (primary or secondary autoimmune, Felty syndrome [rheumatoid arthritis], Sjogren syndrome, inflammatory bowel disease, granulomatosis with polyangiitis) Autoimmune lymphoproliferative syndrome | ESR, CRP, antibodies as indicated by symptoms FAS, FASLG, CASP10 | Treat underlying cause |
| Medications/toxins (antibiotics such as sulfa drugs, phenothiazine, chemotherapy, rituximab, tyrosine kinase inhibitors, benzene, insecticides, azathioprine, mycophenolate mofetil) | Medication review, can check some drug levels; toxicology blood and urine testing | Drug discontinuation if severe |
| Infection | Hepatitis A, B, and C; HIV, EBV, bacteria, parasites, Rickettsia, tuberculosis | Treat underlying cause G-CSF for fever and neutropenia |
| Malignancy (aplastic anemia, leukemia, MDS, large granular lymphocytic leukemia, hairy cell; can present as pancytopenia) | Flow cytometry; bone marrow | Diagnosis-directed therapy G-CSF for fever and neutropenia |
| Nutritional (ask about diet [vegan] and alcohol consumption; can present as pancytopenia) | Vitamin B12, MMA, homocysteine, folate, copper | Replete nutritional deficiency |
| Chronic idiopathic neutropenia | Diagnosis of exclusion | No treatment required if no symptoms G-CSF for treatment of aphthous ulcers, frequent infections |
AML, acute myeloid leukemia; CRP, C-reactive protein; EBV, Epstein-Barr virus; ESR, erythrocyte sedimentation rate; MDS, myelodysplastic syndrome; MMA, methylmalonic acid.