What is Glanzmann Disease?
Glanzmann Disease is an extremely rare genetic pathological disorder which is characterized by abnormal functioning of the platelets resulting in a coagulation disorder. Platelets are an essential part when it comes to clotting of blood and any abnormality in the platelets results in impairment of blood clotting.
The primary presenting feature of Glanzmann Disease is the presence of abnormal bleeding which may be excessive at times. If Glanzmann Disease is left untreated for a long period of time then it may lead to certain life threatening complications due to the continuous hemorrhaging caused by Glanzmann Disease.
What are the Causes of Glanzmann Disease?
Glanzmann Disease follows an autosomal recessive pattern of inheritance meaning that two copies of the defective gene, one from each parent, is required for the development of this condition. The gene responsible for development of Glanzmann Disease is the GPIIb/IIIa gene.
A defect in this gene results in preventing the platelets from appropriately clotting 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 development of Glanzmann Disease.
What are the Symptoms of Glanzmann Disease?
The symptoms of Glanzmann Disease can be seen right at the time of birth or shortly after the birth of the child. The main presenting feature is the presence of easy bruising and bleeding in the child. The bleeding at times may be excessive.
The profuse bleeding can occur if the child 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 associated with Glanzmann Disease are bleeding gums, gastrointestinal bleeding, and erythematous spots on the skin as a result of bleeding.
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 cases of Glanzmann Disease.
The severity of the symptoms caused by Glanzmann Disease are significantly variable where one child or individual may have significantly less symptoms compared to another child or individual who may have significant bleeding due to Glanzmann Disease.
How is Glanzmann Disease Diagnosed?
In order to confirm a diagnosis of Glanzmann Disease a platelet aggregation study may be done. In this study the ability of the platelets to clump together when stimulated is studied. In cases of Glanzmann Disease, this test is abnormal indicating towards a diagnosis of Glanzmann Disease.
Once this condition is suspected then specialized tests to check whether there is a deficiency of aIIbb3 receptor is done which will obviously be abnormal in cases of Glanzmann Disease. A molecular test to check for the mutation of the gene virtually confirms the diagnosis of Glanzmann Disease.
How is Glanzmann Disease Treated?
The most preferred treatment for Glanzmann Disease is platelet transfusions. These transfusions may be required throughout the life of the affected individual. Transfusions may be required before delivery of a child in females or prior to a surgical procedure as this is when the bleeding is extremely severe in individuals with Glanzmann Disease. For nosebleeds, nasal packing may be done as form of treatment to prevent bleeding from occurring. Regular dental screening is also required to prevent any bleeding from the gums in individuals affected with Glanzmann Disease.
For heavy bleeding during menstrual periods, hormonal therapy can be used as a mode of treatment of females affected with Glanzmann Disease. Other than this, the treatment is purely supportive and symptomatic for Glanzmann Disease.