cyclic hematopoiesis

Cyclic Hematopoiesis: A Rare Blood Disorder

Cyclic hematopoiesis, also known as cyclic neutropenia, is a rare blood disorder characterized by regular cycles of low levels of certain white blood cells (neutrophils) in the body. This condition affects the production of blood cells, leading to recurring episodes of abnormally low levels of neutrophils.

Key Features:

• Regular Cycles: The condition involves regular cycles of low neutrophil counts, which can last for several days or weeks.
• Low Neutrophil Counts: The neutrophil count falls to low levels, increasing the risk of infection.
• Recurring Episodes: The episodes of low neutrophil counts recur at regular intervals, typically every 3-4 weeks.

Causes and Risk Factors:

• Genetic Disorder: Cyclic hematopoiesis is an inherited genetic disorder, with one copy of the abnormal gene passed down from a parent being enough to cause the disease.
• Increased Infection Risk: The condition increases the risk of infection due to low neutrophil counts.

Symptoms and Complications:

• Frequent Infections: Affected individuals are prone to frequent infections, which can be severe and life-threatening.
• Other Health Problems: Cyclic hematopoiesis can also lead to other health problems, such as anemia and bleeding disorders.

References:

• [1] Cyclic neutropenia is a rare blood disorder characterized by recurrent episodes of abnormally low levels of certain white blood cells (neutrophils) in the body. (Source: 8)
• The condition involves regular cycles of low neutrophil counts, which can last for several days or weeks. (Source: 7)
• Cyclic hematopoiesis is an autosomal dominantly inherited hematologic disorder characterized by regular cycling of the peripheral blood neutrophil count to abnormally low levels. (Source: 6)

Recurring Episodes of Neutropenia

Cyclic hematopoiesis, also known as cyclic neutropenia, is a rare blood disorder characterized by recurring episodes of abnormally low levels of neutrophils in the body. This condition occurs in 1 out of 1 million people globally.

Common Signs and Symptoms:

• Recurring severe decrease in certain white blood cells (neutrophils)
• Episodes of neutropenia recur every 21 days, lasting for three to six days
• Patients experience periodic symptoms such as:
  • Fever [2]
  • Malaise [4]
  • Mucosal ulcers [1]
  • Rarely, life-threatening infections [4]

Additional Symptoms:

• In children with cyclic neutropenia, recurrent infections are a significant concern
• The disorder can also cause symptoms such as:
  • Aphthous ulcers (ulcers in the mouth) [6]
  • Throat inflammation (pharyngitis) [6]
  • Gum inflammation (gingivitis) [6]
  • Skin infections [6]

Citation:

• [1] Symptoms of cyclic neutropenia may include fever, a feeling of poor health, as well as possible ulcers (sores) in the mouth.
• [2] Signs & Symptoms. The primary finding associated with cyclic neutropenia is regularly recurring severe decrease in certain white blood cells (neutrophils).
• [4] The recurrent severe neutropenia causes patients to experience periodic symptoms of fever, malaise, mucosal ulcers, and, rarely, life-threatening infections.
• [6] Symptoms of Cyclic Hematopoiesis in Dogs · Gray hair coat, sometimes mixed with light beige · Light colored nose · Lack of growth · Weakness · Fever · Diarrhea ...

Cyclic hematopoiesis, also known as cyclic neutropenia, can be diagnosed through a combination of clinical evaluation and laboratory tests.

• Blood counts: Blood counts are taken to measure the cyclic fluctuations of blood cell counts, including neutrophils. This is often done every 3-4 days to monitor the cycle of neutropenia [8].
• Complete Blood Cell Count (CBC): A CBC is a common test used to diagnose neutropenia, which includes measuring the levels of different types of blood cells, such as neutrophils, red blood cells, and platelets. This test can help identify the presence of cyclic fluctuations in blood cell counts [6].
• Leukocyte differential count (Diff): A leukocyte differential count is a test that measures the percentage of different types of white blood cells, including neutrophils, in the blood. This test can help confirm the diagnosis of neutropenia and identify any abnormalities in the levels of other white blood cells [6].
• Bone marrow aspiration and biopsy: In some cases, a bone marrow aspiration and biopsy may be performed to evaluate the bone marrow's ability to produce blood cells. This test can provide information on the underlying cause of cyclic hematopoiesis [3].
• Targeted sequence testing: Targeted sequence testing is offered for the detection of mutations in the ELANE and HAX1 genes, which can help confirm a diagnosis of congenital or cyclic neutropenia [5].

It's worth noting that the diagnosis of cyclic hematopoiesis often requires a combination of clinical evaluation and laboratory tests. A detailed patient history and thorough clinical evaluation are essential for making an accurate diagnosis [14].

Cyclic hematopoiesis, also known as cyclic neutropenia, is a rare disorder characterized by recurrent episodes of abnormally low levels of certain white blood cells (neutrophils) in the body. When diagnosing this condition, it's essential to consider other potential causes of similar symptoms.

Differential diagnoses for cyclic hematopoiesis:

• Severe congenital neutropenia: This is a rare inherited disorder that affects the production of neutrophils.
• Cyclic neutropenia: As mentioned earlier, this is a rare syndrome of recurrent neutropenia and associated symptoms.
• Marshall syndrome (MS): A rare disorder characterized by recurrent fever syndrome, which can present similarly to cyclic hematopoiesis.
• Severe chronic neutropenia (SCN; also known as Kostmann syndrome): This condition is caused by heterozygous germline mutations in the ELA2 gene encoding neutrophil elastase.

Other conditions that may be considered in the differential diagnosis:

• Autoimmune diseases: Certain autoimmune disorders, such as lupus or rheumatoid arthritis, can cause neutropenia.
• Drug reactions: Some medications can lead to neutropenia as a side effect.
• Chemotherapy: Cancer treatment can sometimes result in neutropenia.
• Hereditary disorders: Other rare genetic conditions, like dyskeratosis congenita, can also present with neutropenia.

Key points for diagnosis:

• A white blood cell count with a differential count is essential to identify the cause of neutropenia.
• If fever is present, infection should be ruled out as a potential cause.
• Genetic testing may be necessary to confirm the presence of specific mutations associated with cyclic hematopoiesis.

References:

[3] Cyclic hematopoiesis, (CH, or cyclic neutropenia) is a rare disease manifested by transient severe neutropenia that recurs approximately every 21 days. ... The differential diagnosis from other forms of familial neutropenia is reviewed. [5] Differential Diagnosis​​ Rare disorders with a presentation similar to cyclic neutropenia are as follows: Marshall syndrome (MS) is a recurrent fever syndrome ... [7] 7. The differential diagnosis for neutropenia is quite broad and includes severe congenital neutropenia, drug reactions, chemotherapy, and hereditary disorders. [11] Introduction. Cyclic neutropenia (CyN) and severe congenital neutropenia (CN) are autosomal-dominant inherited disorders of hematopoiesis that markedly differ in disease severity. [12] Differential Diagnosis Neutropenia can differentiate from antibody deficiency disorders, where a class or different classes of immunoglobulins are below the normal range or absence.