Storage pool disease is a hereditary disease of the platelets that leads to an increased tendency to bleed. It thus belongs to the large group of thrombocytopathies. Both mild cases with little need for treatment and severe cases with a high tendency to bleed are observed.
What is storage pool disease?
Storage pool disease is an English term and means “collective storage disease”. It affects the storage of blood coagulation factors in the granules of the platelets. This very rare disease is only known by its English name. For everything about bloom syndrome, please visit foodezine.com.
The hallmark of storage pool disease is the lack or even the absence of certain granules within the platelets. These are the alpha or delta granules, the absence of which disrupts platelet activation. These granules contain important coagulation factors, acute phase proteins or active ingredients that regulate the blood coagulation process.
Due to the lack of storage of these substances in the context of storage pool disease, the blood coagulation process is disturbed in the case of bleeding and injuries. The thrombocytes represent the so-called blood platelets. They form from the megakaryocytes of the bone marrow. Megakaryocytes are large cells with multiple nuclei that belong to the blood-forming cells.
Several hundred to a thousand thrombocytes pinch off from their branches. Platelets are blood components that form a thrombus during bleeding and injury to seal the open bleeding site. Although they are blood cells, they do not contain a cell nucleus. The function of the platelets is exclusively focused on stopping bleeding.
Causes
Storage pool disease is a special form of thrombocytopathy. For genetic reasons, there is a deficiency or even an absence of alpha or delta granules. Both granules can be affected at the same time. The alpha granules contain so-called adhesion factors such as von Willebrand factor, fibronectin, P-selectin, certain coagulation factors (factor V) and growth factors.
The delta granules contain primarily aggregation-promoting factors such as ADP, serotonin and calcium. When adhesion factors, aggregation-promoting factors, or both are absent, the platelet activation process is disrupted. Platelet activation consists of the four sub-steps adhesion, shape change, aggregation and release reaction.
During adhesion, the thrombocytes bind to the injured part of the vessel wall through the action of the von Willebrand factor and other coagulation factors. During the shape change, the platelets swell into a spherical shape. In the aggregation phase, they cluster together, particularly due to the influence of ADP. The receptor glycoprotein IIb/IIIa binds to fibrinogen.
During the release reaction, various substances are released from the granules of the thrombocytes, which lead to the coagulation of the blood and to increased activation of the thrombocytes. However, the process of platelet activation can be disrupted at several points. In the case of storage pool disease, this affects adhesion or aggregation.
There are also forms of the disease where both processes are disturbed. Platelet adhesion to the vessel wall is impaired by the lack or absence of alpha granules. Important factors such as the von Willebrand factor are no longer sufficiently available. In the absence of delta granules, there is a lack of ADP.
This supports aggregation of the platelets and contributes to increasing platelet activation. In very rare cases, neither alpha granules nor delta granules are present. This leads to even more serious bleeding tendencies. The disease is hereditary. In the case of a lack of alpha granules, the NBEAL2 gene, among others, is affected by a mutation. The genetic defect is inherited in an autosomal recessive manner.
Symptoms, Ailments & Signs
Storage pool disease can be very mild without major bleeding. In this case, there is a normal life expectancy. In more severe cases, mucosal bleeding, subcutaneous skin bleeding, prolonged menstrual bleeding and increased tendency to hematoma occur.
Complications from large blood loss can occur during surgery, trauma, tooth extraction, or childbirth. This can lead to hypovolemic shock.
Diagnosis & course of disease
The diagnosis of a storage pool disease is made by determining the bleeding time, determining the platelet count, by platelet function diagnostics and by determining the granules using an electron microscope. Bleeding time is always increased in storage pool disease.
There are no deviations in the platelet count with a lack of delta granules, while it is slightly reduced with a lack of alpha granules. The collagen-induced platelet aggregation is examined as part of platelet diagnostics. It does not take place in the case of a storage pool disease. Electron microscopic examination of the granules can provide definitive evidence of the existence or exclusion of a storage pool disease.
Complications
Storage pool disease does not necessarily result in symptoms or serious complications. In many cases, those affected can lead an ordinary life and are not restricted in their everyday life. However, most people affected by this disease have a very high tendency to bleed. Even minor injuries can lead to heavy bleeding that cannot be easily stopped.
The menstrual period in women is usually heavier than usual and lasts longer. Furthermore, patients often suffer from swelling or bruising due to storage pool disease. In the case of surgical interventions, an assessment of the risk is necessary and all interventions must be avoided if an alternative treatment can be given. Heavy bleeding can often occur, especially during dental treatment. Those affected also often suffer from nosebleeds.
Treatment is only necessary if bleeding needs to be stopped. However, the symptoms can also be treated preventively with the help of medication. There are no particular complications. The life expectancy of the affected person is usually not reduced if the treatment is successful.
When should you go to the doctor?
In the case of storage pool disease, the person affected is dependent on treatment by a doctor. It is a serious illness that, in the worst case, can lead to significant complications or even death for the person affected. To prevent these complications, a doctor should be consulted at the first sign.
Early diagnosis always has a positive effect on the further course of the disease. A doctor should be consulted if the affected person shows heavy bleeding, which occurs mainly on the skin. The tendency to bleed is significantly increased, so that even minor injuries can lead to severe bleeding. In many cases, the bleeding lasts for a relatively long time. In women, heavy and very long menstrual bleeding can also indicate storage pool disease and should also be examined and treated by a doctor.
As a rule, the disease can be well treated by a general practitioner . However, this disease should always be pointed out in medical examinations.
Treatment & Therapy
Treatment of storage pool disease is often unnecessary when the disease is mild. In the case of combined storage pool disease, however, therapy is necessary. However, a causal treatment is not possible due to the genetic condition of the disease.
The drug desmopressin is usually used to stop bleeding. The artificially produced desmopressin is structurally related to the hormone vasopressin, which acts as an antidiuretic in the body. It lowers the elimination of water from the body. Desmopressin works in a similar way.
It also promotes the secretion of von Willebrand factor, which together with factor VIII increases platelet adhesion. In this way, the bleeding time can be shortened in the case of heavy bleeding. Persons with more severe forms of storage pool disease must have platelet concentrates injected prophylactically before any surgery in order to avoid life-threatening bleeding.
Prevention
Prevention of a storage pool disease is not possible due to the genetic cause. However, human genetic counseling is offered to people who wish to have children and whose family has already had cases of storage pool disease. Prenatal testing for an NBEAL2 mutation can also be performed.
Aftercare
In most cases, the measures and the options for direct aftercare in the case of a storage pool disease prove to be relatively difficult. Those affected must consult a doctor at an early stage so that other complications or other symptoms do not occur later on. Since the disease is a congenital malformation, it cannot be completely cured.
If they wish to have children, they should undergo genetic testing and counseling to prevent storage pool disease from reoccurring. Most patients with storage pool disease require surgical intervention, which can relieve the symptoms permanently. Strict bed rest should always be maintained after such a procedure, also avoiding exertion or physical and stressful activities.
Most patients also depend on psychological support, which can prevent depression in particular. It is also very important to support those affected in their everyday lives in order to improve their quality of life. Even after a successful intervention, regular check-ups and examinations by a doctor are very important in order to monitor the current status of the storage pool disease. As a rule, this disease does not reduce the patient’s life expectancy.
You can do that yourself
Mild forms of storage pool disease do not require treatment. If the symptoms are severe, medical treatment with the administration of desmopressin is required. The treatment of the individual symptoms can be supported by those affected.
Mucosal bleeding must be stopped quickly. The affected area must be disinfected with a gentle agent recommended by the doctor. It is important to protect hematomas. In addition, the affected areas should be observed so that medical advice can be obtained quickly if the hematoma intensifies. In the case of skin bleeding, the blood must first be removed. Minor bleeding can be treated with a plaster or bandage. In the event of extensive bleeding, the doctor responsible should be informed. The same applies to severe physical complaints such as malaise or cardiovascular problems.
The storage pool disease should clear up within a few days to weeks. The patients then have to rest for a few days. The diet should be as rich in iron, folic acid and vitamin B1 as possible, as the body needs important nutrients and minerals as a result of anemia. Which measures are useful in detail in the case of storage pool disease depends on the severity of the disease. Patients should primarily follow the doctor’s instructions.
