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Neutropenia

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Description: Neutropenia is a condition characterized by an abnormally low number of neutrophils, a type of white blood cell crucial for fighting infections.
Type: Neutropenia can be classified into several types, including congenital, cyclic, and acquired neutropenia.

For the type of genetic transmission:
- Congenital neutropenia often involves autosomal recessive or autosomal dominant inheritance patterns.
- Cyclic neutropenia typically follows an autosomal dominant inheritance pattern.

Acquired neutropenia is not typically associated with genetic transmission, as it is usually due to external factors such as infections, medications, or autoimmune conditions.
Signs And Symptoms: Signs and symptoms of neutropenia include fever, painful swallowing, gingival pain, skin abscesses, and otitis. These symptoms may exist because individuals with neutropenia often have infection.Children may show signs of irritability and poor feeding. Hypotension has also been observed in individuals with this condition.
Prognosis: If left untreated, people with fever and absolute neutrophil count <500 have a mortality of up to 70% within 24 hours. The prognosis of neutropenia depends on the cause. Antibiotic agents have improved the prognosis for individuals with severe neutropenia. Neutropenic fever in individuals treated for cancer has a mortality of 4–30%.
Onset: The onset of neutropenia can vary depending on its cause. Acute neutropenia can develop within a few hours to days, often resulting from infections, certain medications, or chemotherapy. Chronic neutropenia develops more slowly, over months or years, and can be due to underlying conditions such as autoimmune disorders or bone marrow abnormalities. Nan stands for nanogram, a unit of measurement often used in medical testing, but it is not specific to neutropenia.
Prevalence: Neutropenia is characterized by an abnormally low count of neutrophils, a type of white blood cell crucial for fighting infections. The prevalence of neutropenia varies depending on the population and underlying causes. Generally, it can affect both children and adults, with certain populations at higher risk, such as those undergoing chemotherapy, individuals with autoimmune diseases, or those with certain genetic disorders. In specific populations like cancer patients receiving chemotherapy, the prevalence can be significant, affecting up to 50% or more. For the general population, it’s less common, but exact prevalence rates can vary widely.
Epidemiology: Neutropenia is usually detected shortly after birth, affecting 6% to 8% of all newborns in neonatal intensive care units (NICUs). Out of the approximately 600,000 neonates annually treated in NICUs in the United States, 48,000 may be diagnosed as neutropenic. The incidence of neutropenia is greater in premature infants. Six to fifty-eight percent of preterm neonates are diagnosed with this auto-immune disease. The incidence of neutropenia correlates with decreasing birth weight. The disorder is seen up to 38% in infants that weigh less than 1000g, 13% in infants weighing less than 2500g, and 3% of term infants weighing more than 2500 g. Neutropenia is often temporary, affecting most newborns in only first few days after birth. In others, it becomes more severe and chronic indicating a deficiency in innate immunity.Furthermore, the prevalence of chronic neutropenia in the general public is rare. In a study conducted in Denmark, over 370,000 people were assessed for the presence of neutropenia. Results published demonstrated only 1% of those evaluated were neutropenic, and were commonly seen in those with HIV, viral infections, acute leukemias, and myelodysplastic syndromes. The study concluded the presence of neutropenia is an ominous sign that warrants further investigation and follow-up.
Intractability: Neutropenia itself is not necessarily intractable. The condition, characterized by an abnormally low concentration of neutrophils in the blood, can often be managed and treated depending on its underlying cause. Treatment options may include medications to stimulate white blood cell production, antibiotics to prevent or treat infections, and addressing the root cause if known, such as adjusting the treatment for cancer patients receiving chemotherapy. The effectiveness of treatment varies, but many cases can be managed successfully.
Disease Severity: Disease_severity: Neutropenia can range from mild to severe. Mild neutropenia often has minimal symptoms and can be managed with regular monitoring. Severe neutropenia significantly increases the risk of infections and may require urgent medical intervention, such as medications to stimulate white blood cell production or hospitalization.
Healthcare Professionals: Disease Ontology ID - DOID:1227
Pathophysiology: The pathophysiology of neutropenia can be divided into congenital and acquired. The congenital neutropenia (severe and cyclic type) is autosomal dominant, with mutations in the ELA2 gene (neutrophil elastase) as the most common genetic reason for this condition. Acquired neutropenia (immune-associated neutropenia) is due to anti-neutrophil antibodies that target neutrophil-specific antigens, ultimately altering neutrophil function. Furthermore, emerging research suggests neutropenia without an identifiable etiology (idiopathic neutropenia) may be the result of a low-grade, chronic inflammatory process with an abnormal excessive production of myelosuppressive cytokines in a study conducted in the island of Crete.Neutropenia fever can complicate the treatment of cancers. Observations of children noted that fungal infections are more likely to develop in those with neutropenia. Mortality increases during cancer treatments if neutropenia is also present.
Congenital neutropenia is determined by blood neutrophil counts (absolute neutrophil counts or ANC) < 0.5 × 109/L and recurrent bacterial infections beginning very early in childhood. Congenital neutropenia is related to alloimmunization, sepsis, maternal hypertension, twin-to-twin transfusion syndrome, and Rh hemolytic disease.
Carrier Status: Neutropenia is not typically discussed in terms of "carrier status" because it is a condition characterized by an abnormally low level of neutrophils, a type of white blood cell, rather than a trait that one can be a carrier of. Instead, it's often considered in the context of its causes, such as infections, medications, bone marrow problems, or genetic conditions.
Mechanism: ### Mechanism:
Neutropenia is a condition characterized by an abnormally low number of neutrophils, a type of white blood cell essential for fighting infections. The condition can result from a variety of mechanisms, including decreased production of neutrophils in the bone marrow, increased destruction of neutrophils in the bloodstream, or abnormal distribution within the body. Causes include infections, certain medications, autoimmune diseases, and bone marrow disorders such as leukemia or aplastic anemia.

### Molecular Mechanisms:
1. **Genetic Mutations:**
- Mutations in genes such as ELANE (encoding neutrophil elastase), HAX1, and G6PC3 can lead to congenital neutropenia.
- These mutations often disrupt normal neutrophil development and function.

2. **Bone Marrow Suppression:**
- Chemotherapy and radiation therapy can damage bone marrow cells, leading to reduced production of neutrophils.
- Certain medications (e.g., antipsychotics, antibiotics) and toxins can similarly impair bone marrow function.

3. **Immune-Mediated Destruction:**
- Autoimmune disorders can produce antibodies against neutrophils or their precursors (e.g., Felty's syndrome, systemic lupus erythematosus), leading to their destruction.
- Infections (viral or bacterial) can trigger the immune system to destroy neutrophils.

4. **Apoptosis Regulation:**
- Dysregulation of proteins that control apoptosis (programmed cell death) such as Bax and Bcl-2 can result in increased neutrophil death.
- In severe congenital neutropenia, defects in neutrophil elastase can activate the unfolded protein response, leading to increased apoptosis.

5. **Cytokine Imbalance:**
- Abnormal levels of cytokines and growth factors (e.g., G-CSF, GM-CSF, IL-6) can impair neutrophil production and survival.

Understanding these mechanisms can help in diagnosing the underlying cause of neutropenia and guide appropriate treatment strategies.
Treatment: A fever, when combined with profound neutropenia (febrile neutropenia), is considered a medical emergency and requires broad spectrum antibiotics. An absolute neutrophil count less than 200 is also considered a medical emergency and almost always requires hospital admission and initiation of broad spectrum antibiotics with selection of specific antibiotics based on local resistance patterns.Precautions to avoid opportunistic infections in those with chronic neutropenia include maintaining proper soap and water hand hygiene, good dental hygiene and avoiding highly contaminated sources that may contain a large fungal reservoirs such as mulch, construction sites and bird or other animal waste.Neutropenia can be treated with the hematopoietic growth factor granulocyte-colony stimulating factor (G-CSF). These are cytokines that are present naturally in the body. The factors promote neutrophil recovery following anticancer therapy or in chronic neutropenia. Recombinant G-CSF factor preparations, such as filgrastim can be effective in people with congenital forms of neutropenia including severe congenital neutropenia and cyclic neutropenia; the amount needed (dosage) to stabilize the neutrophil count varies considerably (depending on the individual's condition). Guidelines for neutropenia regarding diet are currently being studied. Those who have chronic neutropenia and fail to respond to G-CSF or who have an increased risk of developing MDS or AML (due to increased dosage requirements of G-CSF or having abnormal precursor cells in the bone marrow) often require hematopoietic stem cell transplantation as a treatment.Most cases of neonatal neutropenia are temporary. Antibiotic prophylaxis is not recommended because of the possibility of encouraging the development of multidrug-resistant bacterial strains.These are cytokines that are present naturally in the body. The factors promote neutrophil recovery following anticancer therapy.The administration of intravenous immunoglobulins (IVIGs) has had some success in treating neutropenias of alloimmune and autoimmune origins with a response rate of about 50%. Blood transfusions have not been effective.Patients with neutropenia caused by cancer treatment can be given antifungal drugs. A Cochrane review found that lipid formulations of amphotericin B had fewer side effects than conventional amphotericin B, though it is not clear whether there are particular advantages over conventional amphotericin B if given under optimal circumstances. Another Cochrane review was not able to detect a difference in effect between amphotericin B and fluconazole because available trial data analysed results in a way that disfavoured amphotericin B.
Trilaciclib, a CDK4/6 inhibitor, administered approximately thirty minutes before chemotherapy, has been shown in three clinical trials to significantly reduce the occurrence of chemotherapy-induced neutropenia and the associated need for interventions such as the administration of G-CSF's. The drug was approved in February 2021 by the FDA for use in patients with extensive-stage small cell lung cancer.In November 2023, FDA approved efbemalenograstim alfa.
Compassionate Use Treatment: Neutropenia, a condition characterized by an abnormally low count of neutrophils, can be managed through several treatment approaches, some of which may be considered compassionate use, off-label, or experimental.

1. **Compassionate Use Treatment**:
- When FDA-approved treatments are not available or unsuitable, compassionate use may allow access to investigational drugs. For neutropenia, granulocyte colony-stimulating factor (G-CSF) analogs like filgrastim (Neupogen) or pegfilgrastim (Neulasta) might be provided under compassionate use in specific circumstances.

2. **Off-Label Treatments**:
- Glucocorticoids (such as prednisone) might be prescribed off-label to manage certain autoimmune types of neutropenia.
- Certain immunosuppressive drugs used off-label, such as cyclosporine or mycophenolate mofetil, can be utilized in the treatment of chronic or severe neutropenia.
- Antibiotics may be used off-label for neutropenic patients to prevent or treat infections, depending on individual risk factors and presentations.

3. **Experimental Treatments**:
- Experimental therapies for neutropenia might include the use of novel biologics or gene therapy approaches that are currently in clinical trials.
- Stem cell transplantation is being studied as a potential treatment for severe congenital neutropenia and other chronic forms.

These approaches are considered based on individual patient needs, underlying causes of neutropenia, and the available evidence from ongoing research and clinical trials.
Lifestyle Recommendations: For neutropenia, here are some lifestyle recommendations to help manage the condition:

1. **Avoid Infection**:
- Practice good hand hygiene by washing hands thoroughly with soap and water.
- Avoid crowded places and contact with sick individuals.
- Wear a mask in high-risk areas or during flu season.

2. **Food Safety**:
- Follow a strict food safety regimen, including thoroughly washing fruits and vegetables and cooking meat to safe temperatures.
- Avoid raw or undercooked foods like sushi, eggs, and certain cheeses.

3. **Personal Hygiene**:
- Maintain good oral hygiene, but avoid procedures that might cause gum bleeding.
- Keep cuts and scrapes clean and covered until healed.

4. **Pet Care**:
- Avoid handling pet waste directly and wash hands after contact with pets.
- Have someone else handle cleaning of fish tanks, bird cages, and litter boxes.

5. **Environmental Precautions**:
- Wear gloves when gardening to avoid soil-borne infections.
- Avoid activities that could lead to cuts or abrasions.

6. **Healthy Diet**:
- Focus on a balanced diet to support the immune system.
- Consult with a nutritionist if needed to ensure all dietary needs are met.

7. **Regular Medical Follow-Up**:
- Attend regular check-ups and follow your healthcare provider’s advice.
- Stay up to date with vaccinations as recommended by your doctor.

These lifestyle changes can help reduce infection risk and improve overall health for individuals with neutropenia.
Medication: Neutropenia is a condition characterized by an abnormally low count of neutrophils, a type of white blood cell important for fighting infections. Medications commonly used to treat neutropenia include:

1. **Granulocyte Colony-Stimulating Factors (G-CSFs)**: These stimulate the bone marrow to produce more neutrophils. Examples include filgrastim (Neupogen) and pegfilgrastim (Neulasta).

2. **Granulocyte-Macrophage Colony-Stimulating Factor (GM-CSF)**: Similar to G-CSF, this medication also stimulates white blood cell production. An example is sargramostim (Leukine).

3. **Antibiotics and Antifungals**: Used to prevent or treat infections in patients with neutropenia, as they are more susceptible to infections.

4. **Immunosuppressive Therapy**: In cases where neutropenia is caused by an autoimmune process, medications like corticosteroids may be used.

No specific information is found under "nan" as it does not correlate to any recognized treatment or medication for neutropenia.
Repurposable Drugs: Repurposable drugs for neutropenia include:
1. Granulocyte colony-stimulating factor (G-CSF) analogs like filgrastim and pegfilgrastim, which are primarily used to stimulate the production of white blood cells.
2. Antibiotics and antifungals may be repurposed as prophylactic agents to prevent infections in neutropenic patients.
3. Immunomodulatory drugs such as lenalidomide have shown potential in certain types of hematologic conditions and may be explored for neutropenia management.
Metabolites: Neutropenia is a condition characterized by an abnormally low count of neutrophils, a type of white blood cell crucial for fighting infections. Metabolites associated with neutropenia can include those related to folate and vitamin B12 metabolism, as deficiencies in these nutrients can contribute to the condition. Elevated levels of certain cytokines and chemokines, such as granulocyte colony-stimulating factor (G-CSF), may also be observed as the body attempts to compensate for the low neutrophil count. These metabolic disturbances can impact the production, maturation, and survival of neutrophils in the bone marrow and bloodstream.
Nutraceuticals: Neutropenia is a condition characterized by an abnormally low count of neutrophils, a type of white blood cell that is essential for fighting infections. Nutraceuticals, which are products derived from food sources with extra health benefits in addition to their basic nutritional value, might be considered to support overall immune health in neutropenic patients. Examples include:

1. **Vitamin C**: Known to enhance immune function.
2. **Vitamin E**: Acts as an antioxidant and immune system booster.
3. **Zinc**: Essential for immune cell function and development.
4. **Omega-3 Fatty Acids**: Possess anti-inflammatory properties and may support immune health.
5. **Probiotics**: Can help in maintaining gut flora balance and may modulate the immune system.

Regarding nanotechnology (nan), there is ongoing research exploring its applications in diagnosing, monitoring, and treating neutropenia. Potential applications include:

1. **Nanocarriers for Drug Delivery**: Targeted delivery of growth factors like granulocyte colony-stimulating factor (G-CSF) to stimulate neutrophil production.
2. **Nanodiagnostics**: Enhanced detection and monitoring of infections that neutropenic patients are prone to using nanosensors.
3. **Nanoparticles for Antimicrobial Therapy**: Providing novel approaches to manage infections via targeted antimicrobial delivery systems.

These innovations aim to improve the efficacy and safety of treatments associated with neutropenia.
Peptides: Neutropenia is characterized by an abnormally low count of neutrophils, which are a type of white blood cell essential for fighting infections. Therapeutically, peptides such as granulocyte colony-stimulating factor (G-CSF) can be utilized to stimulate the production of white blood cells. Nanotechnology, particularly the use of nanoparticles, is an emerging area in the treatment and management of neutropenia, enabling targeted drug delivery and potentially enhancing the effectiveness of treatments such as G-CSF.