Bleeding disorder
introduction
Around one in 5,000 people worldwide has a bleeding disorder. In technical terms, a coagulation disorder is called Coagulopathy. A bleeding disorder can develop in two directions. On the one hand, excessive coagulation can occur. The blood becomes thicker, so there is a risk of blood clots, i.e. the formation of Thrombosis or Embolismsresulting from the carry-over of clots is increased. On the other hand, the blood clotting can be too weak, so that Increased risk of bleeding is. Worldwide, over one percent of the population suffers from a bleeding disorder with an increased risk of bleeding.
In the Coagulation / hemostasis it is a complex function chain. At the beginning there is a narrowing of local blood vessels to minimize bleeding. Platelets then pool together to quickly close the wound. The platelet complex is then stabilized again by fibrin threads. The fibrin threads result from the interaction of a total of 12 coagulation factors. Blood coagulation is based on many different components, each of which is individually susceptible to defects, so errors can arise in various places. In the end, many different diseases can result in a bleeding disorder.
Also read: Blood clotting
Symptoms
Patients with a coagulation disorder are mainly affected by the frequent occurrence of bruises (Hematomas) on. A bruise can appear on them even with a slight bump. The bruises often appear in more unusual places, such as the upper arms or on the back. In addition to the bruises, there are other signs of bleeding on the skin. These include above all the so-called Petechiae. These are very small punctiform hemorrhages in the skin or in the mucous membranes that characteristically occur in people with a bleeding disorder. Sometimes the skin hemorrhages can be larger and resemble a rash. In this case one speaks of Purpura.
Furthermore, bleeding, for example from a small cut, takes longer because the body is unable to stop the bleeding as quickly as it is in a healthy person due to the coagulation disorder. Secondary bleeding often occurs when the actual bleeding has already stopped. It is also typical for people with a coagulation disorder that there is frequent nosebleeds or bleeding gums. Patients with a coagulation disorder are therefore often noticed during dental treatment by excessive bleeding that is difficult to stop. In women, increased and prolonged menstrual periods can also be noticed. Serious complications can arise due to the increased tendency to bleed, for example there is an increased risk of cerebral haemorrhage or joint bleeding. The appearance of the symptoms varies widely and depends on the type of disease and the severity of its severity. For example, some patients do not experience symptoms until they have had an accident or the like, while others experience symptoms in everyday life.
This article might also interest you: Hemostasis - The quickest way to stop bleeding
Do you have an increased tendency to bleed? Do you have punctiform hemorrhages in the skin? Maybe Werlhof's disease is behind your complaints. Read more about this at: Werlhof's disease - is it curable?
If there is too much blood clotting, symptoms usually only appear when one is already thrombosis has formed. Thromboses usually arise in the veins of the lower leg. The blood clot restricts blood flow and causes pain in the leg. As the pain progresses, the intensity of the pain increases and the leg swells and becomes warm. In the case of increased blood coagulation, a so-called clot spread into the vessels of the lungs can also occur Pulmonary embolism come. Typical symptoms are breathlessness and chest pain, similar to a heart attack. As a rule, the clots arise in the venous vessel bed, but can also occur in the arterial system. In this case, clot formation can also lead to a heart attack or stroke.
Bruises
Bruises (so-called Hematomas) arise after a shock or impact. A small blood vessel is damaged, so that blood leaks out and collects in the surrounding tissue and coagulates there. A bruise remains. In healthy people, this stain should be completely gone after two to three weeks. If the blood coagulation is reduced, even slight bumps lead to severe bruising. If there is bleeding, the bleeding will take longer and more blood can build up in the tissues, making the bruise look more serious.
causes
Among the diseases associated with reduced coagulation there are diseases whose cause is a malfunction of the blood platelets (Platelets) is. Functional platelets form the basis of the first part of the coagulation of the blood, the bleeding is restricted by the accumulation of cells. In platelet disorders, there may be a malfunction or a lack of platelets. Usually it is a deficiency that can be congenital or autoimmune, for example. Special drugs can also trigger it. Typical for the presence of a blood platelet coagulation disorder is the occurrence of small punctiform skin and mucous membrane hemorrhages (Petechiae).
In addition to a lack of blood platelets, a lack of coagulation factors is also known to trigger a coagulation disorder. This can be a congenital or acquired form. If there is a lack of coagulation factors, there is usually an increased incidence of bruises and even bleeding into the muscles. Since the liver is responsible for the production of coagulation factors, liver diseases can also lead to a lack of coagulation factors. As vitamin K is also required by the liver to produce certain coagulation factors, a deficiency in vitamin K, for example due to a reduced intake of vitamin K with food, leads to an increased tendency to bleed. The effect of vitamin K can also be neutralized by drugs or diseases.
The two hemophilia diseases are generally known for a congenital factor deficiency (Hemophilia A and B), in which factor 8 (XIII) or factor 9 (IX) is missing. Compared to other coagulation disorders, however, this is a rare disease. Haemophilia A is much more common compared to haemophilia B. Both forms of hemophilia are associated with a high risk of bleeding, so that patients have to adapt their lifestyle to the disease in order to avoid life-threatening situations. Often the missing coagulation factor has to be replaced (substituted). Due to the type of inheritance (X-linked recessive), it mainly affects boys. Girls / women very rarely get the disease, but they are often carriers (so-called Conductors) the disease. The most common congenital coagulation disorder, which occurs in around one percent of the population, is von Willebrand syndrome. In this disease, no coagulation factor is missing, but the so-called von Willebrand factor, which is important for the accumulation of blood platelets. In contrast to hemophilia patients (hemophilia), those affected are less restricted in their way of life.
There are many acquired causes of excessive clotting (thrombophilia) that leads to clot formation. These are causes that can usually be changed by changing your lifestyle. The risk factors for increased coagulation include the use of hormonal contraceptives, pregnancy, long immobilization due to being bedridden or a long flight, high nicotine consumption and obesity. If there are risk factors and a thrombosis has already occurred, thrombosis prophylaxis, such as Marcumar, is often prescribed. Genetic diseases can also trigger an increased tendency to thrombosis. These diseases include the factor V Leiden mutation, antithrombin deficiency, and protein C and protein S deficiencies.
You might also be interested in the following topic: hemophilia
Factor 5 (V)
The coagulation factor 5 (V) promotes the development of thrombin. Thrombin in turn is important for the formation of the fibrin scaffold, which stabilizes the blood platelets that attach to the wound in the vessel wall. Protein C inhibits its active form. If there is a mutation in the factor 5 gene, the disease develops "Factor 5 ailment". This is a hereditary disease that is inherited in a dominant mode of inheritance.
(The word “suffering” in the name of the disease does not come from the verb “suffering”, by the way, but from the Dutch city of Leiden, where the disease was discovered). The mutation changes the structure of the coagulation factor 5 (V) minimally so that its counterpart, protein C, which normally binds to factor 5 (V) and inhibits excessive coagulation, can no longer interact properly with factor 5. As a result, the blood clumps (coagulates) more easily, so that the Increased risk of thrombosis is. The thromboses usually arise in venous vesselsthat transport the deoxygenated blood back to the heart. How severe the disease is depends on whether you have received the diseased gene from both parents and thus a so-called gene homozygous carrier is or only from one parent (so-called heterozygous carrier). If you are only a heterozygous carrier, the risk of thrombosis is increased by around 10%, while homozygous carriers have a 50-100 times greater risk.
How is the disease diagnosed? The patients are usually conspicuous by the fact that it is above average for them often to thrombosis comes. Thromboses also occur at a young age. In these cases, a factor V Leiden mutation should always be ruled out by a hematologist (a doctor who studies blood). Furthermore, there are mostly others Members of the family also fell illso in this case a early clarification makes sense. The mutation is determined by determining the clotting time. Normally, clotting should be inhibited by adding activated protein C. This is not the case with Factor V Leiden. If this examination is positive, a genetic examination follows. Permanent drug therapy is in principle not necessary. Thrombosis prophylaxis is only prescribed in the event of a thrombosis or if the risk of thrombosis is increased by other circumstances, such as a long-haul flight.
Further information on this topic can be found at: Factor 5 suffering
Protein S deficiency
The Protein S is an important factor in the coagulation system. It takes over within the coagulation cascade Task of a cofactor and activates protein C.. Together the two proteins form one complexwho activated the Coagulation factors V and VIII inactivated. It then follows that less fibrin will be produced. So the coagulation is weakened.Missing protein S due to a genetic defect or if too little is produced in the liver, this affects the entire coagulation system. Since the protein S Vitamin K dependent can be a defect due to too little Vitamin K arise. Liver disease like Inflammation or chronic malfunction can lead to it. Others too genetic types of diseases are possible. So the total protein S can be in normal limits, but not function properly. Because of the Protein S deficiency will that Protein C not activated and this can then the Factors V and VIII do not deactivate. The coagulation then runs logically reinforced which makes the blood more prone to Blood clots to develop. Because of the patients' increased tendency to form blood clots, they have to vary according to age and situation blood-thinning drugs take for prevention.
Further information on this topic can be found at: Protein S deficiency
Factor 7 (VII)
The coagulation factor 7 (VII) is also known as proconvertin and plays an important role in the coagulation cascade. A deficiency of factor 7 (VII) is called Hypoproconvertinemia designated. The disease has an increased tendency to bleed, with symptoms similar to haemophilia (blood disease). A lack of factor 7 (VII) can, but does not have to be, inherited. The mode of inheritance of factor 7 (VII) deficiency is recessive, which means that a defective gene must be inherited from each parent in order for the disease to break out. Since factor 7 (VII) is one of the coagulation factors that the liver produces depending on vitamin K, a vitamin K deficiency can also lead to a deficiency of factor 7 (VII). The activity of this factor can be increased during surgery, leading to increased coagulation.
Diagnosis: tests
If the patient describes typical symptoms associated with coagulation disorders to the doctor, can various tests be initiated. In any case, blood must be drawn and examined for this.
In the blood can then Number of platelets (Platelets) can be determined. This is a standard value that is actually routinely checked with every blood sample. Often a bleeding disorder only becomes apparent as part of a Routine blood test accidentally recognized.
In addition to determining blood platelets, you can still special coagulation tests be performed. In this context, the INR value, the PTT and the PTZ time are determined, which ultimately is largely the Clotting time corresponds. For example, these examinations are carried out as standard before operations or other interventions. If there are deviations, this is the first indication of a blood coagulation disorder, but the exact cause cannot yet be clearly assigned due to a conspicuous value. The cause can already be narrowed down, depending on which value is increased. In order to be able to determine exactly which coagulation factor is deficient or whether there is a dysfunction of the blood platelets, further blood tests must be carried out in a specialized coagulation laboratory. In order to conclude that there is a congenital disease, a genetic test must also be arranged. Sometimes a Bone marrow aspiration may be necessary if the doctor suspects that the production of platelets in the bone marrow is impaired. This can occur, for example, in the context of leukemia, a blood cancer.
Desire to have children with a bleeding disorder
An existing blood coagulation disorder in the sense of an increased Thrombosis Risk increases the risk of miscarriage in the first trimester of pregnancy. This is especially the case if it is an undetected blood coagulation disorder that is accordingly not treated. Even under normal conditions, the risk of thrombosis is increased due to the hormonal changes during pregnancy. If there is also a bleeding disorder, the probability is even higher that there will be small blood clots within the blood vessels of the Mother cake, the placenta, comes. The clots prevent the embryo from receiving proper nutrition and miscarriage.
If a woman has already had a miscarriage two or three times, around a quarter of all cases have a bleeding disorder. This is often one Factor V Leiden Mutation. If a bleeding disorder is known beforehand, a Thrombosis prophylaxis be taken. For pregnant women, for example, heparin, which has to be injected daily, is suitable. Marcumar, which is otherwise often prescribed, may from Not pregnant women be taken because the active ingredient can pass through the placenta on the child and can lead to malformations. Adequate exercise and wearing compression stockings naturally reduce the risk of thrombosis.
Blood clotting disorders in children
If blood clotting disorders occur in children, it is often a congenital disorder, such as hemophilia or the much more common von Willebrand syndrome. Especially when children frolic, bruises and bumps can develop more quickly in children with a coagulation disorder. Often, bruises also form in unfamiliar places, such as on the back or stomach, feet or hands. Children with a coagulation disorder are also noticeable because of the formation of bruises after vaccinations or because they often do it on both sides Epistaxis.
In addition to congenital diseases, children who have an infection / cold can also develop a vascular inflammation in which coagulation is restricted and extensive skin bleeding (a Purpura) train. The disease is called Henoch-Schönlein purpura describes and usually arises in children between two and eight years of age. The cause of the disease is an overreaction of the immune system. The idiopathic thrombocytopenic purpura (ITP) also occurs through an overreaction of the immune system after infections in children. The disease is very similar to that Henoch-Schönlein purpura. However, it comes with the ITP to the destruction of blood platelets and consequently to an increased tendency to bleed. Both diseases are only temporary diseases and not chronic diseases like hemophilia.
Blood coagulation disorders in the sense of increased coagulation, which are associated with an increased risk of thrombosis, do not usually occur in children. The risk of thrombosis tends to increase in old age.
