Bernard-Soulier syndrome, also known as hemorrhagic platelet dystrophy or BSS, is an extremely rare bleeding disorder. BSS is inherited in an autosomal recessive manner. The syndrome itself is classified as one of the so-called plateletopathies. To date, just one hundred cases have been documented; however, the disease course is positive.
What is Bernard-Soulier syndrome?
Bernard-Soulier syndrome – abbreviated as BSS – is an autosomal recessive bleeding disorder that is a hereditary thrombocytophathy. BSS is also fondly referred to as giant platelet syndrome; individuals affected by BSS suffer not only from bleeding but also from extremely enlarged platelets. The name – Bernard Soulier syndrome – comes from two French hematologists. Jean-Pierre Soulier and Jean-Bernard discovered the syndrome and wrote the first notes describing the symptoms of Bernard-Soulier syndrome as early as 1948. Of these, the talk is mainly of the huge platelets and prolonged bleeding.
Causes
BSS is a form of platelet dystrophy. At what age the first symptoms appear is not known. There are always different indications; furthermore, so few people are affected by Bernard-Soulier syndrome that there are about one hundred cases which have actually been documented. The cause of Bernard-Soulier syndrome is a platelet adhesion disorder. This is a hereditary defect of a so-called membrane receptor, which subsequently triggers the syndrome. For this reason, physicians speak of a point mutation, which can also be referred to as a nonsense mutation. The mutation is located on glycoprotein Ib or the coding GPIb. However, the disruption of platelet functionality causes the bleeding. Thereby, the platelet clumping is disturbed or prevented. This is due to the fact that the necessary receptors lack blood clotting. However, there are 30 known or different mutations of the so-called glycoproteins, which subsequently cause Bernard-Soulier syndrome. However, all forms have in common the fact that platelet dysfunction is present.
Symptoms, complaints, and signs
Classic symptoms include hemorrhagic diathesis as well as a tendency to bruise. In hemorrhagic diathesis, the medical profession refers to an extremely strong bleeding tendency. Bleeding can be so severe and prolonged without any particular reason. For this reason, treatment is concentrated on reacting in advance to any blood loss (e.g. during surgery). As a further consequence, hematomas naturally form relatively quickly. Other symptoms and features characteristic of Bernard-Soulier syndrome include: Nosebleeds, purpura, gastrointestinal bleeding, and also spontaneous bleeding (predominantly on the mucous membranes) and markedly prolonged menstrual bleeding in women.
Diagnosis and course of the disease
The physician makes the diagnosis of Bernard-Soulier syndrome in the context of the patient’s medical history, blood values from the laboratory, and visual findings. Of importance to the physician are, for example, how frequently hematomas form or how often the affected person bleeds for no reason and the duration of the bleeding. A blood smear is taken from the patient for the laboratory. The physician primarily focuses on macrothrombocytosis. These are those giant platelets that sometimes bring certainty that the affected person actually suffers from Bernard-Soulier syndrome. Experts also check the number of platelets as part of the complete blood count. Affected individuals show a significantly reduced number here. People affected by Bernard-Soulier syndrome have fewer than 30,000 platelets (measured per microliter); the normal value is between 150,000 and 400,000 platelets. The size of the platelets is between four and 10 micrometers; however, normal or healthy platelets have a size of just one to four micrometers at the most. Furthermore, the affected person also notices that the duration of the bleedings doubles again and again. This is another reason for the physician to be sure that it is Bernard-Soulier syndrome.By means of coagulation diagnostics, the attending physician obtains confirmation of his suspected diagnosis. However, if all cases of the disease and their courses are considered, it can be assumed that the prognosis is favorable.
Complications
In most cases, Bernard-Soulier syndrome can be treated relatively well, resulting in no further complications in the patient. Increased bleeding occurs in the patient, which in many cases is difficult to stop. For this reason, care must always be taken during accidents or surgical procedures to take Bernard-Soulier syndrome into account and to stop the bleeding if necessary. Nosebleeds or bleeding in the gastrointestinal tract also often occur unexpectedly. Women also suffer from a long and heavier menstrual period due to Bernard-Soulier syndrome. The patient is restricted in his everyday life by the heavy bleeding. Usually, there are no particular complications if the bleeding is treated properly and stopped in time. Causal treatment is not possible for Bernard-Soulier syndrome, as the syndrome is still largely unexplored. If there is severe blood loss, it must be compensated. The bleeding can also be limited with the help of medication. Bernard-Soulier syndrome does not usually reduce the patient’s life expectancy. However, physicians must be informed if Bernard-Soulier syndrome is present, otherwise severe and unexpected bleeding may occur during surgical procedures.
When should you see a doctor?
In Bernard-Soulier syndrome, a doctor must be consulted in any case. This can significantly reduce discomfort and further complications, which also significantly increases the life expectancy of the affected person. As a rule, a doctor must be consulted in Bernard-Soulier syndrome when the affected person notices an increased tendency to bleed. Bleeding can also occur spontaneously. Even minor injuries or cuts lead to severe bleeding that cannot be stopped easily. In acute emergencies, an emergency physician must be called or a hospital must be visited. However, the physician must also be informed about Bernard-Soulier syndrome before a surgical intervention, so that these bleedings can be avoided directly. Likewise, frequent nosebleeds or spontaneous bleeding in women are indicative of Bernard-Soulier syndrome, so an examination by a physician should be performed. Bernard-Soulier syndrome can be diagnosed by a general practitioner. In this case, the syndrome can be identified by a blood test. The treatment itself is done with the help of medications. In surgical procedures, physicians should be forewarned to avoid complications.
Treatment and therapy
Normally, physicians aim for symptomatic therapy. This means that medical professionals cannot treat the cause, but predominantly only the symptoms. In certain cases, physicians will also intervene directly in the patient’s organism using platelet concentrates. However, these acute cases and interventions only occur when large blood losses are already possible or imminent. This is the case, for example, before surgical interventions. Here, the patient is given so-called platelet transfusions. Otherwise, physicians try to design the therapy in such a way that the organism is mainly spared. Sometimes, however, the physicians intervene by means of special drugs, even if this is an intraoperative measure. Further treatment can sometimes be intrapartum or prepartum. This means that therapies are carried out even before the birth. However, it sometimes happens that there is also longer as well as heavier bleeding. Particularly, menstrual bleeding (period) as well as injuries are classic examples of why sufferers bleed longer as well as heavier.
Outlook and prognosis
There is no cure for Bernard-Soulier syndrome. The disease is based on a genetic defect that cannot be repaired with existing medical and therapeutic options. In addition, intervention and alterations of human genetics are not permitted for legal reasons. Therefore, the disease is not considered curable so far. In medical care, physicians concentrate on alleviating the symptoms. This works very well for most patients.The platelet concentration in the blood is measured in regular control examinations. If it is too low, platelets are increased via a blood transfusion. This procedure is routine and completed within one treatment. However, since this method is not sustainable, regular transfusions are required. Without the use of transfusions, the patient runs the risk of severe bleeding that cannot be stopped. In severe cases, there is a risk of severe blood loss that can have a fatal outcome without medical care. As a precaution, people with Bernard-Soulier syndrome should have adequate blood transfusions before surgical procedures. If they lose too much blood within an operation because bleeding cannot be stopped, they are at increased risk for complications. Overall, if risky situations with the diseases are avoided, sufferers can achieve a good quality of life.
Prevention
There is no prevention. Because Bernard-Soulier syndrome is hereditary, no measures can be taken to prevent Bernard-Soulier syndrome. However, only about 100 cases have been documented to date; therefore, the likelihood of contracting Bernard-Soulier syndrome is extremely low or very unlikely.
Follow-up
Hereditary Bernard-Soulier syndrome (BSS) is characterized by platelet dysfunction. This requires permanent treatment because bleeding can occur easily. In conditions such as hemorrhagic platelet dystrophy, clotting disorders are present. These may be manifested by frequent bruising or a tendency to bleed, even for trivial reasons. Acute treatment and follow-up usually merge because of the nature of the disease. Due to the hereditary component of Bernard-Soulier syndrome, there is no cure from the symptoms. Follow-up care is so important because the patient must avoid mistakes that increase the tendency to bleed. For example, he should not take acetylsalicylic acid preparations and painkillers. He should also avoid foods such as garlic. These thin the blood and can increase the bleeding tendency. Follow-up care after diagnosis should therefore include nutritional counseling. The risk of bleeding with a diagnosis of Bernard-Soulier syndrome increases when blunt force or accidental trauma affects the body. In the worst cases, massive blood loss and subsequent hypovolemic shock can occur after such impacts. Sufferers must therefore ensure that emergency physicians are immediately informed of the presence of Bernard-Soulier syndrome. However, compared with other bleeding disorders of a similar nature, people with Bernard-Soulier syndrome are not in immediate danger of death. Platelet preparations can be administered in cases of severe bleeding after an accident.
Here’s what you can do yourself
Because Bernard-Soulier syndrome has been shown to be due to a genetic defect, there is no prospect of a cure. Nevertheless, affected individuals who receive medical care manage to achieve a good quality of life and a normal life expectancy. It is important to have the concentration of platelets in the blood measured at regular check-ups. If this is too low, it is increased with the help of blood transfusions. Before upcoming operations or before childbirth, patients should also have transfusions to avoid complications. In everyday life, it is important to avoid risky situations. Extreme sports are strongly discouraged because of the high risk of injury. But team and contact sports always carry the risk of minor and major injuries, which can quickly lead to excessive bleeding in those affected. For women who suffer from increased menstrual bleeding due to the condition, the market offers sufficiently strong and safe hygiene products in various strengths. However, regular medical and laboratory examinations are, above all others, the key to less stressful management of Bernard-Soulier syndrome in daily life. Patients who receive good therapeutic care, however, can go about their daily lives normally with these restrictions and rules of conduct.
