Glanzmann thrombasthenia is one of the rarer blood clotting disorders. In its more severe form, it can even be fatal if the patient is not treated with the right medication in time. It occurs as a hereditary and acquired disorder and – depending on its form and symptoms – can be a great psychological burden for the person affected. Since children have a higher risk of injury anyway due to their behavior, they are particularly at risk when it comes to accidents.
What is Glanzmann’s thrombasthenia?
Glanzmann thrombasthenia was named after its discoverer, Swiss pediatrician Eduard Glanzmann. The hereditary form of the very rare platelet clotting disorder is also known as hereditary thrombasthenia, GT, Glanzmann-Naegeli syndrome, and Glanzmann Naegeli disease. Platelet disease is inherited in an autosomal recessive manner and skips several generations before recurring. The parents of the newborn often do not know that they are carriers because they do not notice any symptoms in themselves. Patients have an increased tendency to bleed, which can range from milder manifestations of the disease (pinpoint skin under-bleeding) to fatal complications during surgical procedures. Therefore, it is very risky for those affected to have even minor surgical procedures performed if they themselves and/or the operating physician are unaware of the disease. It is not possible to determine exactly how widespread the blood disorder is among the population. What is certain, however, is that it occurs with equal frequency in men and women. Women who are carriers can carry their child to term normally, but they should seek advice before planning a pregnancy. In addition to the hereditary form of Glanzmann’s thrombasthenia, there is also the acquired form.
Causes
In the inherited form of Glanzmann thrombasthenia, the disease occurs in the child only if both parents are carriers of the genetic defect. If only one parent is a carrier or has the disease themselves, then the statistical probability is 50 percent that the child will become ill themselves. If the parents are related, the child’s risk of developing Glanzmann’s thrombasthenia is very high. The disease affects the glycoprotein receptor GPIIb/GPIIIa (alpha-2b/beta-3 integrin) on chromosome 17, which is either completely absent or malfunctions. The receptor on the gene ensures that the platelets clump together where the blood vessel is injured (blood clotting, aggregation). If the receptor is not fully functional, the fibrinogen, Von Willebrand factor and fibronectin that clump the platelets together cannot dock there. Bleeding cannot be stopped at all or only with a long delay. Acquired Glanzmann thrombasthenia occurs in the context of malignant diseases (Hodgkin’s lymphoma, multiple myeloma, leukemia). In this form of the disease, the body forms autoantibodies against the GPIIb/IIIa receptor. Hodgkin’s lymphoma is a malignant tumor of the lymph glands. In multiple myeloma, the malignant cancer cells in the bone marrow grow to such an extent that bone fractures occur. The resulting platelet deficiency also increases the risk of bleeding.
Symptoms, complaints, and signs
Patients who have Glanzmann’s thrombasthenia have an increased tendency to bleed. They are stopped only after a prolonged bleeding period or no clots form at all. The first symptoms occur even before the age of 5. However, the disease is usually diagnosed late in life. The mild form of platelet dysfunction manifests itself in minor skin bleeding (punctate, small-spotted), bleeding from the gums and nose, excessive menstruation in women, and multiple skin bleeding (purpura). They occur in the context of injuries, but also often spontaneously. Larger hematoma-like skin subcutaneous hemorrhages have a conspicuous cherry-red color. In severe cases, there is bloody vomiting, gastrointestinal bleeding (tarry stools), blood in the urine, and severe life-threatening bleeding during surgical procedures and hemorrhage. Hypovolemic shock may occur during childbirth. Most sufferers have the mild form of Glanzmann-Naegeli syndrome.
Diagnosis
Glanzmann Naegeli disease is diagnosed on the basis of the findings of skin hypohemorrhages (type and extent) and the absence of platelet aggregation accompanied by normal platelet count and shape. With the help of flow cytometry, the physician can determine the nature of the genetic defect. If the disease is detected early, the prognosis for the patient is favorable.
Complications
Without treatment, Glanzmann thrombasthenia can lead to death. In most cases, in addition to the physical symptoms, there is also severe psychological distress and, in most cases, depression. Those affected have an increased tendency to bleed in different parts of the body. This can lead to an increased risk of injury, especially in children, so that they are particularly affected by the disease. For the patient, this leads to considerable restrictions in everyday life. The bleeding occurs mainly on the gums or nose. In women, there is increased bleeding during the period. This can lead to considerable mood swings. It is not uncommon for the blood to also appear in the urine or stool, which primarily leads to a panic attack in many patients. However, internal bleeding in this case can be life-threatening, so urgent treatment is necessary for the patient. A complete cure and causal treatment are not possible for Glanzmann’s thrombasthenia. However, the symptoms and duration of bleeding can be limited to the extent that there is no decreased lifespan.
When should you see a doctor?
Adults or children who experience unusually intense bleeding from even minor injuries should see a doctor. If bleeding from open wounds cannot be stopped or can only be stopped after a very large amount of blood loss, a doctor’s visit is necessary. There is a threat of a life-threatening condition that must be medically examined and clarified. If dizziness occurs due to blood loss, or if there is unsteadiness of gait or lightheadedness, caution is advised. To avoid an increased risk of accidents, the affected person should rest. A doctor should then be consulted. If frequent nose or gum bleeding occurs during physical activity, a physician should be consulted. Women and sexually mature girls who suffer from very heavy menstrual bleeding must consult a doctor. If dizziness, decreased performance or fatigue occurs during menstruation, medical care should be sought. If there is blood in the stool, bloody urine or a bloody discharge, consultation with a physician is necessary. If blood is also spit up during vomiting, there is cause for concern. If persistent bleeding results in impaired consciousness or loss of consciousness, an emergency physician must be called. Until the ambulance arrives, follow the instructions of medical personnel and try to stop the bleeding.
Treatment and therapy
Glanzmann’s thrombasthenia is treated with the help of anticoagulant medications and with the hemostatic agent desmopressin (DDAVP) to avert life-threatening consequences from the affected person. Hemostatic drugs act on the release of the malfunctioning receptor. If the affected person cannot be helped with this, platelet concentrates are transfused. This is also done during surgery. However, 15 to 30 percent of patients treated in this way develop antibodies. Today, recombinant coagulation factor VIIa (human fibrinogen) is often given as an alternative. Removal of the spleen, previously considered less effective, also improves the patient’s disease state. Even sufferers with no clot formation no longer develop severe symptoms and have increased platelet counts. It can also reduce the duration of bleeding.
Outlook and prognosis
The genetic disorder is not curable. Due to legal requirements, human genetics must not be altered. For this reason, symptomatic treatment is given to sufferers of Glanzmann’s thrombasthenia. In severe cases, the blood clotting disorder can have a fatal course. Sufferers tend to bleed more than they normally do. If timely medical care is not provided, the affected person may bleed to death and die prematurely.The birth process poses a particular risk. Here, there is a risk of sudden death of the newborn. Due to the complaints and their consequences, it is absolutely necessary to seek medical care in case of abnormalities as well as in case of an increased bleeding tendency in the course of life. It influences to a considerable extent the further development and thus the prognosis. Although there is no curability in Glanzmann’s thrombasthenia, an elementary improvement within the organism of the affected person can be achieved in a long-term therapy as well as in an immediate action in case of occurring irregularities. Injuries should be treated immediately by a doctor so that bleeding can be stopped as soon as possible. Provided that the administration of medicines is successful, there is a significant improvement in the health condition. The overall incidence of bleeding is reduced. In addition, in the case of injuries, the loss of blood is documented to a lesser extent.
Prevention
Prevention is not possible with Glanzmann thrombasthenia because it is either inherited or occurs syndromically as part of certain diseases acquired later in life. The only way to reduce the occurrence of bleeding, at least in terms of quantity, is to avoid injury if possible. Spontaneous nosebleeds, for example, can be prevented by avoiding violent head movements, and gum bleeding can be prevented by gentle careful tooth brushing.
Aftercare
In general, no direct options for follow-up care are possible or necessary in Glanzmann’s thrombasthenia. The focus is on early detection and treatment of symptoms to prevent further complications. Since Glanzmann’s thrombasthenia is a hereditary disease, genetic counseling should be performed if the patient wishes to have children in order to prevent inheritance of the disease. In general, those affected by Glanzmann’s thrombasthenia need to take extra precautions in case of injury or bleeding. An identification card should also be worn, which indicates the disease, in order to guarantee quick and proper care by a doctor. Also in the case of medical examinations or surgical interventions, the doctors must be informed about Glanzmann’s thrombasthenia to avoid further complications. In many cases the disease can be treated by a surgical intervention, whereby this intervention must be performed several times in order to permanently alleviate the symptoms. After the operation, the affected person should always rest and take care of his body. Further measures are usually not necessary. The patient’s life expectancy is also usually not reduced by Glanzmann’s thrombasthenia if severe bleeding is avoided.
Here’s what you can do yourself
As a rule, Glanzmann’s thrombasthenia can be treated or supported only to a very limited extent by self-help measures. Patients depend primarily on symptomatic treatment by a physician. In general, bleeding must always be avoided. This is especially the case with children, as they can easily injure themselves. In this case, parents must pay particular attention to children to avoid any bleeding. Spontaneous nosebleeds should also be avoided in this case by the person concerned not making any violent or jerky head movements. The same is true for gum bleeding, although this can be avoided by proper and regular care of the teeth and by using a mouth rinse. In case of surgery, the doctor must always be informed about Glanzmann’s thrombasthenia to avoid complications. Children should always be fully informed about the disease. This includes informing them about the risks and complications that can occur with heavy bleeding. Contact with other sufferers can lead to an exchange of experiences, which may have a positive effect on the patient’s daily life and quality of life.
