Pelger Huet Anomaly Pictures, Symptoms, Causes, Treatment
It is a rare blood disorder. It is an inherited blood condition and an autosomal dominant disorder in which nucleus of different types of White Blood Cells have unusual shape ( dumbbel or biloped shape) and lumpy structure with coarse chromatin specially of neutrophil cell. It is a benign disorder but the individual having PHA are healthy. This is the heterozygous form. Neutrophils differentiation occurs by the decrease in amount or mutation in Lamin B receptor. It does not cause an increase in neutrophils, but may cause false increase in band forms. The overall cell size, appearance of cytoplasm and staining quality of granules in PHA cells are similar to normal mature neutrophils. Cells with this type of abnormality have a normal life, proper killing function, biomedical, metabolic, bactericidal activity,motility and response to chemotactic stimuli. In infection cases, toxic changes of granulocytes are also seen.
When neutrophilic leukocytes stained with Leishman stain, it may be divided into three types: type A (normal), type B (intermediate) and type C (typical Pelger–Huet). PHA must be differentiated from psedu-pelger huet anomaly which is found in patients having certain types of leukemia. Differentiation from aplastic anemia is also necessary in which abnormal blood cells are produced in bone marrow.
Symptoms vary from person to person. No physical symptoms are shown . Abnormal neutrophils with bilobed nuclei appear in peripheral blood smear test. Patients feel fatigue, weight loss, malaise and shortness of breath. White Blood count is normal in some cases but increase in bands is observed. Patients also suffer from seizures, convulsions.
According to the Human Phenotype Ontology, mostly people show symptoms due to abnormal chromosome aggregation. Some individuals have abnormality of dentition, abnormal teeth, dental problem, depressed nasal bridge due to low nasal root or flat bridge of nose, eczema and failed to lose weight rapidly.
This disorder may caused by Inadequate oxygen supply to brain. It can occur after respiratory or cardiac arrest (anorexia), infectious disease like encephalitis- meningitis- brain abscess, and ingestion of toxins like mercury- carbon monoxide are also reported causes. Other causes include tumors of brain, head injury or trauma, metabolic disorders, thrombosis and embolism.
It also may also be caused by mutation in LRB gene (this gene product is essential for maintaining shape and structure of neutrophils), bone marrow disorder, acute leukemia, HIV, tuberculosis, mycoplamsa, myelopoliferative disease, drug interactions and acute enteritis.
The most common drugs used are phenitoin, carbamezapine, phenobarbitol, gabapentin, primidone (for tonic clonic seizures), Gabapentin and felbamate. Anti convulsants drugs are used but should be closely monitored for toxic signs like ataxia, lethargy, dizziness, drowsiness, slurred speech, nausea, vomiting. Valporic acid , ibuprofen, docetaxel and Chemical ingestion benzene are also used.
If patients do not respond to drug therapy then surgery is recommended. Surgery is performed by removing focal lesions to stop the seizures. Family screening of this disorder is recommended to identify the affected individuals of family.
When neutrophilic leukocytes stained with Leishman stain, it may be divided into three types: type A (normal), type B (intermediate) and type C (typical Pelger–Huet). PHA must be differentiated from psedu-pelger huet anomaly which is found in patients having certain types of leukemia. Differentiation from aplastic anemia is also necessary in which abnormal blood cells are produced in bone marrow.
Pelger Huet Anomaly Pictures
Pelger Huet Anomaly Symptoms
Symptoms vary from person to person. No physical symptoms are shown . Abnormal neutrophils with bilobed nuclei appear in peripheral blood smear test. Patients feel fatigue, weight loss, malaise and shortness of breath. White Blood count is normal in some cases but increase in bands is observed. Patients also suffer from seizures, convulsions.
According to the Human Phenotype Ontology, mostly people show symptoms due to abnormal chromosome aggregation. Some individuals have abnormality of dentition, abnormal teeth, dental problem, depressed nasal bridge due to low nasal root or flat bridge of nose, eczema and failed to lose weight rapidly.
Pelger Huet Anomaly Causes
This disorder may caused by Inadequate oxygen supply to brain. It can occur after respiratory or cardiac arrest (anorexia), infectious disease like encephalitis- meningitis- brain abscess, and ingestion of toxins like mercury- carbon monoxide are also reported causes. Other causes include tumors of brain, head injury or trauma, metabolic disorders, thrombosis and embolism.
It also may also be caused by mutation in LRB gene (this gene product is essential for maintaining shape and structure of neutrophils), bone marrow disorder, acute leukemia, HIV, tuberculosis, mycoplamsa, myelopoliferative disease, drug interactions and acute enteritis.
Pelger Huet Anomaly Treatment
The most common drugs used are phenitoin, carbamezapine, phenobarbitol, gabapentin, primidone (for tonic clonic seizures), Gabapentin and felbamate. Anti convulsants drugs are used but should be closely monitored for toxic signs like ataxia, lethargy, dizziness, drowsiness, slurred speech, nausea, vomiting. Valporic acid , ibuprofen, docetaxel and Chemical ingestion benzene are also used.
If patients do not respond to drug therapy then surgery is recommended. Surgery is performed by removing focal lesions to stop the seizures. Family screening of this disorder is recommended to identify the affected individuals of family.
Pelger Huet Anomaly Pictures, Symptoms, Causes, Treatment
Reviewed by Simon Albert
on
April 11, 2018
Rating:
Reviewed by Simon Albert
on
April 11, 2018
Rating:
