Cyclic neutropenia is a rare hematological disorder characterized by regular fluctuations in the number of circulating neutrophils in the blood. Neutrophils are a type of white blood cell that plays a key role in the immune system’s defense against bacterial infections.
In cyclic neutropenia, the number of circulating neutrophils falls to abnormally low levels at regular intervals, typically every 21 to 28 days, and then gradually recovers over the next few days.
The condition is usually diagnosed in childhood or early adulthood and can be inherited in an autosomal dominant pattern, which means that an affected person has a 50% chance of passing on the condition to their children. However, in some cases, it can also occur sporadically without a family history.
Epidemiology
Cyclic neutropenia is a rare hematologic disorder, with an estimated incidence of approximately 1 in 1 million people worldwide. The condition is most commonly diagnosed in childhood or early adulthood, but cases have been reported in people of all ages. Cyclic neutropenia is inherited in an autosomal dominant pattern in about half of all cases.
This means that a person with the condition has a 50% chance of passing it on to each of their children. In the other half of cases, the condition occurs sporadically without a family history. Cyclic neutropenia is more commonly reported in people of Northern European ancestry, but cases have been reported in people of all races and ethnicities.
Because cyclic neutropenia is a rare condition, there is limited data on its global prevalence and incidence. However, it is considered to be one of the primary causes of periodic fever syndrome in children, and it is important for healthcare providers to consider cyclic neutropenia as a potential diagnosis in children with recurrent infections and periodic fevers. Overall, while cyclic neutropenia is a rare condition, its impact on affected individuals can be significant, and early diagnosis and appropriate management are crucial for optimal outcomes.
Anatomy
Pathophysiology
Cyclic neutropenia is a hematologic disorder that is characterized by regular fluctuations in the number of circulating neutrophils in the blood. The pathophysiology of cyclic neutropenia is not fully understood, but it is thought to be related to a genetic mutation that affects the regulation of neutrophil production in the bone marrow. In people with cyclic neutropenia, the number of circulating neutrophils in the blood drops to abnormally low levels every 21 to 28 days and then gradually recovers over the next few days.
This is thought to be due to a decrease in the production of neutrophils in the bone marrow during these periods, followed by a rapid increase in production once the nadir has been reached. The genetic mutation associated with cyclic neutropenia is located in the ELANE gene, which provides instructions for the production of neutrophil elastase, an enzyme that plays a key role in the regulation of neutrophil production. This mutation is thought to result in decreased production of neutrophil elastase, leading to dysregulation of neutrophil production and the characteristic periodic fluctuations in neutrophil counts seen in cyclic neutropenia.
The regular fluctuations in neutrophil count in cyclic neutropenia make affected individuals more susceptible to bacterial infections, particularly during periods of neutropenia. This can result in recurrent infections and fever, as well as an increased risk of sepsis and other serious complications. Overall, while the exact pathophysiology of cyclic neutropenia is not fully understood, research into the genetic and molecular mechanisms underlying the condition is ongoing, and this may lead to improved understanding and treatment options for affected individuals in the future.
Etiology
Cyclic neutropenia is a rare hematologic disorder that is thought to have a genetic etiology, with mutations in the ELANE gene being the most commonly identified genetic cause of the condition. The ELANE gene provides instructions for the production of neutrophil elastase, an enzyme that is involved in the regulation of neutrophil production in the bone marrow.
Mutations in this gene have been identified in approximately 90% of cases of familial cyclic neutropenia and in approximately 50% of cases of sporadic cyclic neutropenia. In addition to genetic mutations, other factors may contribute to the development of cyclic neutropenia, including infections, autoimmune disorders, and exposure to certain drugs or toxins. However, the exact role of these factors in the etiology of the condition has yet to be fully understood, and further research is needed to better understand the pathogenesis of cyclic neutropenia.
Overall, while the etiology of cyclic neutropenia is not fully understood, the condition is thought to have a genetic basis in many cases, with mutations in the ELANE gene playing a key role in the dysregulation of neutrophil production in the bone marrow. Early diagnosis and appropriate management are crucial for optimal outcomes in individuals with cyclic neutropenia, and ongoing research into the underlying causes of the condition may lead to improved understanding and treatment options in the future.
Genetics
Prognostic Factors
The prognosis of cyclic neutropenia varies depending on the severity and frequency of symptoms, as well as the individual’s response to treatment. With appropriate treatment, most individuals with cyclic neutropenia can lead relatively normal lives, although they may experience occasional episodes of neutropenia and associated symptoms.
In some cases, cyclic neutropenia may be associated with an increased risk of infections, particularly during episodes of neutropenia. Therefore, individuals with cyclic neutropenia should take extra precautions to avoid exposure to infectious agents and seek prompt medical attention if they develop signs or symptoms of infection.
In rare cases, cyclic neutropenia may progress to myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML). However, the risk of progression to these more serious conditions is generally low, and regular monitoring of blood counts can help identify any early signs of disease progression.
Clinical History
Clinical history
The clinical history of cyclic neutropenia typically involves recurrent episodes of fever, mouth ulcers, and infections such as pneumonia, skin infections, and abscesses. These episodes tend to occur in a cyclical pattern, with periods of relative health alternating with periods of increased susceptibility to infections. The frequency and severity of these episodes can vary widely between individuals with cyclic neutropenia.
Some individuals may experience symptoms only once every few weeks, while others may have symptoms several times a month or even more frequently. Cyclic neutropenia is typically diagnosed in childhood, although onset may occur at any age. The severity of symptoms tends to be greatest in the first few years of life and may improve somewhat with age. In addition to the symptoms described above, individuals with cyclic neutropenia may also experience other hematologic abnormalities, such as anemia and thrombocytopenia.
Dental and gum infections are also common and can lead to tooth loss if left untreated. Overall, the clinical history of cyclic neutropenia is characterized by recurrent episodes of fever, infections, and mouth ulcers, occurring in a cyclical pattern. Early diagnosis and appropriate management are essential for optimal outcomes in individuals with this condition.
Physical Examination
Physical examination
The physical examination of an individual with cyclic neutropenia may reveal a variety of findings, depending on the severity of the condition and the presence of associated complications. Some possible findings that may be observed during a physical exam include:
Fever: Individuals with cyclic neutropenia may have a fever during episodes of infection, which can be detected by taking their temperature.
Oral ulcers: Mouth ulcers are a hallmark feature of cyclic neutropenia and can be seen on examination of the mouth.
Infections: Individuals with cyclic neutropenia may have signs of infection, such as redness, swelling, and tenderness in affected areas.
Anemia: Cyclic neutropenia can be associated with anemia, which may be detected on physical examination as pallor of the skin, lips, and nail beds.
Splenomegaly: Enlargement of the spleen can occur in some cases of cyclic neutropenia and may be detected on physical examination as a palpable mass in the left upper quadrant of the abdomen.
Lymphadenopathy: Swollen lymph nodes may be present in some cases of cyclic neutropenia and can be detected on physical examination.
Skin findings: Skin infections, abscesses, or other skin lesions may be present in some individuals with cyclic neutropenia and can be seen on physical examination.
Age group
Associated comorbidity
Associated activity
Acuity of presentation
Differential Diagnoses
Differential diagnosis
The symptoms of cyclic neutropenia, such as recurrent infections, fever, and mouth ulcers, can be similar to those of other hematologic disorders and immune system disorders. Therefore, a number of conditions can be considered in the differential diagnosis of cyclic neutropenia. Some of these include:
Aplastic anemia
Acute myeloid leukemia (AML)
Myelodysplastic syndrome (MDS)
Autoimmune disorders such as lupus and rheumatoid arthritis
HIV infection
Additional testing such as blood cell counts, bone marrow biopsy, and genetic testing can help distinguish cyclic neutropenia from other conditions. It is important to have a thorough evaluation by a healthcare provider with expertise in hematologic disorders to establish an accurate diagnosis and appropriate management plan.
Laboratory Studies
Imaging Studies
Procedures
Histologic Findings
Staging
Treatment Paradigm
The treatment of cyclic neutropenia aims to reduce the frequency and severity of symptoms, prevent complications, and improve quality of life. Treatment options may vary depending on the severity of the condition and the individual’s response to therapy. Some common treatment options for cyclic neutropenia include:
Granulocyte-colony stimulating factor (G-CSF): This medication is a type of growth factor that stimulates the production and release of neutrophils from the bone marrow. G-CSF is the mainstay of treatment for cyclic neutropenia and is effective in reducing the frequency and severity of symptoms in most cases.
Antibiotics: Antibiotics may be used to prevent or treat infections that occur during episodes of neutropenia. Prophylactic antibiotics may be recommended for individuals who have frequent or severe infections.
Oral hygiene: Good oral hygiene is essential for individuals with cyclic neutropenia, as mouth ulcers and dental infections are common. Regular brushing, flossing, and dental check-ups are recommended.
Immunoglobulin therapy: In some cases, intravenous immunoglobulin (IVIG) may be used to help prevent infections in individuals with cyclic neutropenia.
Bone marrow transplant: In severe cases of cyclic neutropenia, a bone marrow transplant may be considered as a curative option.
In addition to these treatments, individuals with cyclic neutropenia should be closely monitored for signs of infection and should seek medical attention promptly if they develop symptoms such as fever, chills, cough, or skin lesions. Regular blood tests may also be necessary to monitor neutrophil counts and overall hematologic status.
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References
https://www.ncbi.nlm.nih.gov/books/NBK557396/
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Cyclic neutropenia is a rare hematological disorder characterized by regular fluctuations in the number of circulating neutrophils in the blood. Neutrophils are a type of white blood cell that plays a key role in the immune system’s defense against bacterial infections.
In cyclic neutropenia, the number of circulating neutrophils falls to abnormally low levels at regular intervals, typically every 21 to 28 days, and then gradually recovers over the next few days.
The condition is usually diagnosed in childhood or early adulthood and can be inherited in an autosomal dominant pattern, which means that an affected person has a 50% chance of passing on the condition to their children. However, in some cases, it can also occur sporadically without a family history.
Cyclic neutropenia is a rare hematologic disorder, with an estimated incidence of approximately 1 in 1 million people worldwide. The condition is most commonly diagnosed in childhood or early adulthood, but cases have been reported in people of all ages. Cyclic neutropenia is inherited in an autosomal dominant pattern in about half of all cases.
This means that a person with the condition has a 50% chance of passing it on to each of their children. In the other half of cases, the condition occurs sporadically without a family history. Cyclic neutropenia is more commonly reported in people of Northern European ancestry, but cases have been reported in people of all races and ethnicities.
Because cyclic neutropenia is a rare condition, there is limited data on its global prevalence and incidence. However, it is considered to be one of the primary causes of periodic fever syndrome in children, and it is important for healthcare providers to consider cyclic neutropenia as a potential diagnosis in children with recurrent infections and periodic fevers. Overall, while cyclic neutropenia is a rare condition, its impact on affected individuals can be significant, and early diagnosis and appropriate management are crucial for optimal outcomes.
Cyclic neutropenia is a hematologic disorder that is characterized by regular fluctuations in the number of circulating neutrophils in the blood. The pathophysiology of cyclic neutropenia is not fully understood, but it is thought to be related to a genetic mutation that affects the regulation of neutrophil production in the bone marrow. In people with cyclic neutropenia, the number of circulating neutrophils in the blood drops to abnormally low levels every 21 to 28 days and then gradually recovers over the next few days.
This is thought to be due to a decrease in the production of neutrophils in the bone marrow during these periods, followed by a rapid increase in production once the nadir has been reached. The genetic mutation associated with cyclic neutropenia is located in the ELANE gene, which provides instructions for the production of neutrophil elastase, an enzyme that plays a key role in the regulation of neutrophil production. This mutation is thought to result in decreased production of neutrophil elastase, leading to dysregulation of neutrophil production and the characteristic periodic fluctuations in neutrophil counts seen in cyclic neutropenia.
The regular fluctuations in neutrophil count in cyclic neutropenia make affected individuals more susceptible to bacterial infections, particularly during periods of neutropenia. This can result in recurrent infections and fever, as well as an increased risk of sepsis and other serious complications. Overall, while the exact pathophysiology of cyclic neutropenia is not fully understood, research into the genetic and molecular mechanisms underlying the condition is ongoing, and this may lead to improved understanding and treatment options for affected individuals in the future.
Cyclic neutropenia is a rare hematologic disorder that is thought to have a genetic etiology, with mutations in the ELANE gene being the most commonly identified genetic cause of the condition. The ELANE gene provides instructions for the production of neutrophil elastase, an enzyme that is involved in the regulation of neutrophil production in the bone marrow.
Mutations in this gene have been identified in approximately 90% of cases of familial cyclic neutropenia and in approximately 50% of cases of sporadic cyclic neutropenia. In addition to genetic mutations, other factors may contribute to the development of cyclic neutropenia, including infections, autoimmune disorders, and exposure to certain drugs or toxins. However, the exact role of these factors in the etiology of the condition has yet to be fully understood, and further research is needed to better understand the pathogenesis of cyclic neutropenia.
Overall, while the etiology of cyclic neutropenia is not fully understood, the condition is thought to have a genetic basis in many cases, with mutations in the ELANE gene playing a key role in the dysregulation of neutrophil production in the bone marrow. Early diagnosis and appropriate management are crucial for optimal outcomes in individuals with cyclic neutropenia, and ongoing research into the underlying causes of the condition may lead to improved understanding and treatment options in the future.
The prognosis of cyclic neutropenia varies depending on the severity and frequency of symptoms, as well as the individual’s response to treatment. With appropriate treatment, most individuals with cyclic neutropenia can lead relatively normal lives, although they may experience occasional episodes of neutropenia and associated symptoms.
In some cases, cyclic neutropenia may be associated with an increased risk of infections, particularly during episodes of neutropenia. Therefore, individuals with cyclic neutropenia should take extra precautions to avoid exposure to infectious agents and seek prompt medical attention if they develop signs or symptoms of infection.
In rare cases, cyclic neutropenia may progress to myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML). However, the risk of progression to these more serious conditions is generally low, and regular monitoring of blood counts can help identify any early signs of disease progression.
Clinical history
The clinical history of cyclic neutropenia typically involves recurrent episodes of fever, mouth ulcers, and infections such as pneumonia, skin infections, and abscesses. These episodes tend to occur in a cyclical pattern, with periods of relative health alternating with periods of increased susceptibility to infections. The frequency and severity of these episodes can vary widely between individuals with cyclic neutropenia.
Some individuals may experience symptoms only once every few weeks, while others may have symptoms several times a month or even more frequently. Cyclic neutropenia is typically diagnosed in childhood, although onset may occur at any age. The severity of symptoms tends to be greatest in the first few years of life and may improve somewhat with age. In addition to the symptoms described above, individuals with cyclic neutropenia may also experience other hematologic abnormalities, such as anemia and thrombocytopenia.
Dental and gum infections are also common and can lead to tooth loss if left untreated. Overall, the clinical history of cyclic neutropenia is characterized by recurrent episodes of fever, infections, and mouth ulcers, occurring in a cyclical pattern. Early diagnosis and appropriate management are essential for optimal outcomes in individuals with this condition.
Physical examination
The physical examination of an individual with cyclic neutropenia may reveal a variety of findings, depending on the severity of the condition and the presence of associated complications. Some possible findings that may be observed during a physical exam include:
Fever: Individuals with cyclic neutropenia may have a fever during episodes of infection, which can be detected by taking their temperature.
Oral ulcers: Mouth ulcers are a hallmark feature of cyclic neutropenia and can be seen on examination of the mouth.
Infections: Individuals with cyclic neutropenia may have signs of infection, such as redness, swelling, and tenderness in affected areas.
Anemia: Cyclic neutropenia can be associated with anemia, which may be detected on physical examination as pallor of the skin, lips, and nail beds.
Splenomegaly: Enlargement of the spleen can occur in some cases of cyclic neutropenia and may be detected on physical examination as a palpable mass in the left upper quadrant of the abdomen.
Lymphadenopathy: Swollen lymph nodes may be present in some cases of cyclic neutropenia and can be detected on physical examination.
Skin findings: Skin infections, abscesses, or other skin lesions may be present in some individuals with cyclic neutropenia and can be seen on physical examination.
Differential diagnosis
The symptoms of cyclic neutropenia, such as recurrent infections, fever, and mouth ulcers, can be similar to those of other hematologic disorders and immune system disorders. Therefore, a number of conditions can be considered in the differential diagnosis of cyclic neutropenia. Some of these include:
Aplastic anemia
Acute myeloid leukemia (AML)
Myelodysplastic syndrome (MDS)
Autoimmune disorders such as lupus and rheumatoid arthritis
HIV infection
Additional testing such as blood cell counts, bone marrow biopsy, and genetic testing can help distinguish cyclic neutropenia from other conditions. It is important to have a thorough evaluation by a healthcare provider with expertise in hematologic disorders to establish an accurate diagnosis and appropriate management plan.
The treatment of cyclic neutropenia aims to reduce the frequency and severity of symptoms, prevent complications, and improve quality of life. Treatment options may vary depending on the severity of the condition and the individual’s response to therapy. Some common treatment options for cyclic neutropenia include:
Granulocyte-colony stimulating factor (G-CSF): This medication is a type of growth factor that stimulates the production and release of neutrophils from the bone marrow. G-CSF is the mainstay of treatment for cyclic neutropenia and is effective in reducing the frequency and severity of symptoms in most cases.
Antibiotics: Antibiotics may be used to prevent or treat infections that occur during episodes of neutropenia. Prophylactic antibiotics may be recommended for individuals who have frequent or severe infections.
Oral hygiene: Good oral hygiene is essential for individuals with cyclic neutropenia, as mouth ulcers and dental infections are common. Regular brushing, flossing, and dental check-ups are recommended.
Immunoglobulin therapy: In some cases, intravenous immunoglobulin (IVIG) may be used to help prevent infections in individuals with cyclic neutropenia.
Bone marrow transplant: In severe cases of cyclic neutropenia, a bone marrow transplant may be considered as a curative option.
In addition to these treatments, individuals with cyclic neutropenia should be closely monitored for signs of infection and should seek medical attention promptly if they develop symptoms such as fever, chills, cough, or skin lesions. Regular blood tests may also be necessary to monitor neutrophil counts and overall hematologic status.
https://www.ncbi.nlm.nih.gov/books/NBK557396/
medtigo
Cyclic Neutropenia
Updated :
April 23, 2023
Cyclic neutropenia is a rare hematological disorder characterized by regular fluctuations in the number of circulating neutrophils in the blood. Neutrophils are a type of white blood cell that plays a key role in the immune system’s defense against bacterial infections.
In cyclic neutropenia, the number of circulating neutrophils falls to abnormally low levels at regular intervals, typically every 21 to 28 days, and then gradually recovers over the next few days.
The condition is usually diagnosed in childhood or early adulthood and can be inherited in an autosomal dominant pattern, which means that an affected person has a 50% chance of passing on the condition to their children. However, in some cases, it can also occur sporadically without a family history.
Cyclic neutropenia is a rare hematologic disorder, with an estimated incidence of approximately 1 in 1 million people worldwide. The condition is most commonly diagnosed in childhood or early adulthood, but cases have been reported in people of all ages. Cyclic neutropenia is inherited in an autosomal dominant pattern in about half of all cases.
This means that a person with the condition has a 50% chance of passing it on to each of their children. In the other half of cases, the condition occurs sporadically without a family history. Cyclic neutropenia is more commonly reported in people of Northern European ancestry, but cases have been reported in people of all races and ethnicities.
Because cyclic neutropenia is a rare condition, there is limited data on its global prevalence and incidence. However, it is considered to be one of the primary causes of periodic fever syndrome in children, and it is important for healthcare providers to consider cyclic neutropenia as a potential diagnosis in children with recurrent infections and periodic fevers. Overall, while cyclic neutropenia is a rare condition, its impact on affected individuals can be significant, and early diagnosis and appropriate management are crucial for optimal outcomes.
Cyclic neutropenia is a hematologic disorder that is characterized by regular fluctuations in the number of circulating neutrophils in the blood. The pathophysiology of cyclic neutropenia is not fully understood, but it is thought to be related to a genetic mutation that affects the regulation of neutrophil production in the bone marrow. In people with cyclic neutropenia, the number of circulating neutrophils in the blood drops to abnormally low levels every 21 to 28 days and then gradually recovers over the next few days.
This is thought to be due to a decrease in the production of neutrophils in the bone marrow during these periods, followed by a rapid increase in production once the nadir has been reached. The genetic mutation associated with cyclic neutropenia is located in the ELANE gene, which provides instructions for the production of neutrophil elastase, an enzyme that plays a key role in the regulation of neutrophil production. This mutation is thought to result in decreased production of neutrophil elastase, leading to dysregulation of neutrophil production and the characteristic periodic fluctuations in neutrophil counts seen in cyclic neutropenia.
The regular fluctuations in neutrophil count in cyclic neutropenia make affected individuals more susceptible to bacterial infections, particularly during periods of neutropenia. This can result in recurrent infections and fever, as well as an increased risk of sepsis and other serious complications. Overall, while the exact pathophysiology of cyclic neutropenia is not fully understood, research into the genetic and molecular mechanisms underlying the condition is ongoing, and this may lead to improved understanding and treatment options for affected individuals in the future.
Cyclic neutropenia is a rare hematologic disorder that is thought to have a genetic etiology, with mutations in the ELANE gene being the most commonly identified genetic cause of the condition. The ELANE gene provides instructions for the production of neutrophil elastase, an enzyme that is involved in the regulation of neutrophil production in the bone marrow.
Mutations in this gene have been identified in approximately 90% of cases of familial cyclic neutropenia and in approximately 50% of cases of sporadic cyclic neutropenia. In addition to genetic mutations, other factors may contribute to the development of cyclic neutropenia, including infections, autoimmune disorders, and exposure to certain drugs or toxins. However, the exact role of these factors in the etiology of the condition has yet to be fully understood, and further research is needed to better understand the pathogenesis of cyclic neutropenia.
Overall, while the etiology of cyclic neutropenia is not fully understood, the condition is thought to have a genetic basis in many cases, with mutations in the ELANE gene playing a key role in the dysregulation of neutrophil production in the bone marrow. Early diagnosis and appropriate management are crucial for optimal outcomes in individuals with cyclic neutropenia, and ongoing research into the underlying causes of the condition may lead to improved understanding and treatment options in the future.
The prognosis of cyclic neutropenia varies depending on the severity and frequency of symptoms, as well as the individual’s response to treatment. With appropriate treatment, most individuals with cyclic neutropenia can lead relatively normal lives, although they may experience occasional episodes of neutropenia and associated symptoms.
In some cases, cyclic neutropenia may be associated with an increased risk of infections, particularly during episodes of neutropenia. Therefore, individuals with cyclic neutropenia should take extra precautions to avoid exposure to infectious agents and seek prompt medical attention if they develop signs or symptoms of infection.
In rare cases, cyclic neutropenia may progress to myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML). However, the risk of progression to these more serious conditions is generally low, and regular monitoring of blood counts can help identify any early signs of disease progression.
Clinical history
The clinical history of cyclic neutropenia typically involves recurrent episodes of fever, mouth ulcers, and infections such as pneumonia, skin infections, and abscesses. These episodes tend to occur in a cyclical pattern, with periods of relative health alternating with periods of increased susceptibility to infections. The frequency and severity of these episodes can vary widely between individuals with cyclic neutropenia.
Some individuals may experience symptoms only once every few weeks, while others may have symptoms several times a month or even more frequently. Cyclic neutropenia is typically diagnosed in childhood, although onset may occur at any age. The severity of symptoms tends to be greatest in the first few years of life and may improve somewhat with age. In addition to the symptoms described above, individuals with cyclic neutropenia may also experience other hematologic abnormalities, such as anemia and thrombocytopenia.
Dental and gum infections are also common and can lead to tooth loss if left untreated. Overall, the clinical history of cyclic neutropenia is characterized by recurrent episodes of fever, infections, and mouth ulcers, occurring in a cyclical pattern. Early diagnosis and appropriate management are essential for optimal outcomes in individuals with this condition.
Physical examination
The physical examination of an individual with cyclic neutropenia may reveal a variety of findings, depending on the severity of the condition and the presence of associated complications. Some possible findings that may be observed during a physical exam include:
Fever: Individuals with cyclic neutropenia may have a fever during episodes of infection, which can be detected by taking their temperature.
Oral ulcers: Mouth ulcers are a hallmark feature of cyclic neutropenia and can be seen on examination of the mouth.
Infections: Individuals with cyclic neutropenia may have signs of infection, such as redness, swelling, and tenderness in affected areas.
Anemia: Cyclic neutropenia can be associated with anemia, which may be detected on physical examination as pallor of the skin, lips, and nail beds.
Splenomegaly: Enlargement of the spleen can occur in some cases of cyclic neutropenia and may be detected on physical examination as a palpable mass in the left upper quadrant of the abdomen.
Lymphadenopathy: Swollen lymph nodes may be present in some cases of cyclic neutropenia and can be detected on physical examination.
Skin findings: Skin infections, abscesses, or other skin lesions may be present in some individuals with cyclic neutropenia and can be seen on physical examination.
Differential diagnosis
The symptoms of cyclic neutropenia, such as recurrent infections, fever, and mouth ulcers, can be similar to those of other hematologic disorders and immune system disorders. Therefore, a number of conditions can be considered in the differential diagnosis of cyclic neutropenia. Some of these include:
Aplastic anemia
Acute myeloid leukemia (AML)
Myelodysplastic syndrome (MDS)
Autoimmune disorders such as lupus and rheumatoid arthritis
HIV infection
Additional testing such as blood cell counts, bone marrow biopsy, and genetic testing can help distinguish cyclic neutropenia from other conditions. It is important to have a thorough evaluation by a healthcare provider with expertise in hematologic disorders to establish an accurate diagnosis and appropriate management plan.
The treatment of cyclic neutropenia aims to reduce the frequency and severity of symptoms, prevent complications, and improve quality of life. Treatment options may vary depending on the severity of the condition and the individual’s response to therapy. Some common treatment options for cyclic neutropenia include:
Granulocyte-colony stimulating factor (G-CSF): This medication is a type of growth factor that stimulates the production and release of neutrophils from the bone marrow. G-CSF is the mainstay of treatment for cyclic neutropenia and is effective in reducing the frequency and severity of symptoms in most cases.
Antibiotics: Antibiotics may be used to prevent or treat infections that occur during episodes of neutropenia. Prophylactic antibiotics may be recommended for individuals who have frequent or severe infections.
Oral hygiene: Good oral hygiene is essential for individuals with cyclic neutropenia, as mouth ulcers and dental infections are common. Regular brushing, flossing, and dental check-ups are recommended.
Immunoglobulin therapy: In some cases, intravenous immunoglobulin (IVIG) may be used to help prevent infections in individuals with cyclic neutropenia.
Bone marrow transplant: In severe cases of cyclic neutropenia, a bone marrow transplant may be considered as a curative option.
In addition to these treatments, individuals with cyclic neutropenia should be closely monitored for signs of infection and should seek medical attention promptly if they develop symptoms such as fever, chills, cough, or skin lesions. Regular blood tests may also be necessary to monitor neutrophil counts and overall hematologic status.
https://www.ncbi.nlm.nih.gov/books/NBK557396/
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