What is Glanzmann Disease?
Glanzmann Disease is an extremely rare genic diseased disorder which is characterise by abnormal operation of the platelet result in a clotting disorderliness . platelet are an essential part when it comes to clotting of lineage and any irregularity in the platelets results in handicap of blood curdling .
The primary presenting lineament of Glanzmann Disease is the mien of abnormal bleeding which may be excessive at fourth dimension . If Glanzmann Disease is left untreated for a long period of time then it may lead to sure life threatening complication due to the continuous hemorrhaging stimulate by Glanzmann Disease .
What are the Causes of Glanzmann Disease?
Glanzmann Disease follow an autosomal recessive normal of inheritance meaning that two copies of the defective factor , one from each parent , is required for the ontogenesis of this condition . The gene creditworthy for development of Glanzmann Disease is the GPIIb / IIIa factor .
A blemish in this gene results in prevent the platelet from suitably coagulate the blood whenever an injury occurs . This gene is present on chromosome 17 . There have been various abnormalities found in this gene which have been responsible for the exploitation of Glanzmann Disease .
What are the Symptoms of Glanzmann Disease?
The symptoms of Glanzmann Disease can be encounter flop at the meter of birth or before long after the parturition of the nipper . The main presenting feature of speech is the presence of gentle bruising and shed blood in the child . The bleeding at time may be excessive .
The profuse hemorrhage can occur if the shaver undergoes a surgical procedure of some kind . Frequent nosebleeds are something that is also seen in children with Glanzmann Disease .
Some of the other symptoms that are associate with Glanzmann Disease are run gums , GI hemorrhage , and erythematous spots on the cutis as a result of hemorrhage .
Females with Glanzmann Disease tend to have heavier than normal menstrual periods along with irregular uterine bleeding and excessive bleeding during childbirth . Hematuria is also seen in some fount of Glanzmann Disease .
The inclemency of the symptom due to Glanzmann Disease are significantly variable where one fry or individual may have importantly less symptom compared to another child or individual who may have significant bleeding due to Glanzmann Disease .
How is Glanzmann Disease Diagnosed?
so as to confirm a diagnosis of Glanzmann Disease a platelet assembling work may be done . In this written report the ability of the blood platelet to clump together when stimulated is studied . In cases of Glanzmann Disease , this test is unnatural indicating towards a diagnosing of Glanzmann Disease .
Once this condition is suspected then specialized trial to check whether there is a lack of aIIbb3 receptor is done which will obviously be unnatural in cases of Glanzmann Disease . A molecular mental testing to check for the variation of the gene virtually reassert the diagnosis of Glanzmann Disease .
How is Glanzmann Disease Treated?
The most preferred intervention for Glanzmann Disease is platelet transfusions . These transfusions may be required throughout the life of the affected individual . Transfusions may be required before saving of a kid in females or prior to a surgical operation as this is when the bleeding is extremely severe in individuals with Glanzmann Disease . For nosebleeds , nasal packing material may be done as manikin of intervention to foreclose bleed from occurring . steady dental viewing is also want to prevent any haemorrhage from the gums in individuals affected with Glanzmann Disease .
For expectant haemorrhage during catamenial stop , hormonal therapy can be used as a mode of treatment of female affect with Glanzmann Disease . Other than this , the intervention is strictly supportive and diagnostic for Glanzmann Disease .
