Werlhof disease, also known as Werlhof disease and immune thrombocytopenia, is an autoimmune disorder. It is characterized by the formation of antibodies against the body’s own blood platelets (thrombocytes) in affected individuals. The disease requires distinct medical treatment and therapy.
What is Werlhof disease?
The general practitioner Paul Gottlieb Werlhof (1699-1767) first described maculosus haemorrhagicus as a disease of the blood in 1735. It was not until 1883 that it was diagnosed that the signs of the disease were generated by a decrease in platelets. Werlhof’s disease, like so many, bears the name of its discoverer, Paul Gottlieb Werlhof. A characteristic feature of the disease is that the body mistakenly attacks its own platelets, leading to their rapid degradation. Therefore, bleeding occurs in the untreated course.
Causes
Werlhof disease belongs to the group of autoimmune diseases:
The immune system forms antibodies against the body’s existing platelets, the thrombocytes. They are components of the white and red blood cells and play an important role in blood clotting because the disc-shaped platelets can close wounds through cross-linking. In Werlhof’s disease, the number of platelets decreases significantly because the platelets, which are overloaded with antibodies, are broken down too quickly in the spleen. While the platelet count in the laboratory averages 140 to 360 thousand/μl, the tendency to bleed increases as the platelet concentration in the blood decreases. Petechiae are the typical appearance. Petechiae are pinhead-sized, punctate hemorrhages from the capillaries of the mucous membranes or skin. At first, petechiae are usually noticeable on the lower leg or ankles. If the lack of platelets is the cause of the bleeding, it is called thrombocytopenic purpura. If the percentage of platelets decreases dramatically, it is called primary immune thrombocythemia. This deficiency can assume life-threatening proportions. In addition, the trigger of primary immune thrombocythemia is not known according to current knowledge. Studies have shown that Werlhof’s disease often has to be diagnosed after infections and/or pregnancies. In children, the disease occasionally occurs spontaneously, to heal just as spontaneously after some time. This pleasing course can also be seen in adulthood, but only in the first year of illness. After one year, Werlhof disease becomes chronic.
Symptoms, complaints, and signs
In Werlhof disease, there is a severe decrease in blood platelets (thrombocytes). As a result, minute injuries in the blood vessels can no longer be closed, causing blood to leak from the arteries and veins. The clinical picture of Werlhof’s disease is correspondingly varied. In the initial phase, small punctate hemorrhages, so-called petechiae, are among the characteristic symptoms. These can occur both on the skin and on the mucous membranes. The resulting skin or mucous membrane hemorrhages are about the size of a pin and are often mistaken for flea bites. If the number of platelets continues to fall, the bleeding can expand and the individual petechiae flow together to form extensive skin manifestations. Even minor injuries result in large bruises (hematomas). Severe nosebleeds and bleeding that is difficult to stop from minor cuts or abrasions also indicate a reduced number of platelets in the blood. In women, bleeding from the vagina may also occur. Similarly, blood may be seen in the stool in both men and women. Pronounced Werlhof disease with bleeding in internal organs such as the spleen, liver, lungs, or kidneys may further result in life-threatening shock.
Diagnosis and course
A steadily and sharply decreasing platelet count results in the inability to re-close injuries to blood vessels. This leakage of blood generates several symptoms:
In the beginning, there are the pinhead-sized petechiae. When they coalesce, areal hemorrhages occur. Bruising, severe nosebleeds, blood in urine and stool, bleeding from the vagina and vomiting blood are typical manifestations. If the bleeding is severe, acute shock symptoms may occur.If the organism is supplied with too little oxygen, and blood loss can be a significant cause in Werlhof’s disease, the body begins to exclude organs that are avoidably unimportant from the oxygen supply. This condition can become life-threatening if left untreated. If the brain, lungs, liver, spleen or other internal organs are affected, massive damage and dysfunction can also occur. Werlhof’s disease can be identified on the basis of the blood count, because the number of platelets is significantly reduced. After examining the bone marrow, on the other hand, the physician will diagnose a clear excess of hematopoietic megakaryocytes. Therefore, in the course of diagnosis, other platelet diseases must be excluded.
Complications
As a result of Werlhof disease, patients experience significant limitations and discomfort in their daily lives. In most cases, there is increased bleeding, which can also occur internally. In this case, without treatment, life expectancy is significantly reduced, as damage to the organs can occur, which is irreversible. It is also not uncommon to experience nosebleeds and a reduced ability to cope with stress in the affected person. The blood can also be found in the stool or urine and can lead to a panic attack or sweating in many people. Furthermore, it is not uncommon for those affected to vomit blood. Likewise, an undersupply of oxygen to the body occurs, and the internal organs can also be irreversibly damaged. The liver and spleen in particular can lead to a life-threatening condition for the patient. The damage to the organs leads to further discomfort and complications. Treatment of this disease takes place acutely with the help of medication. Complications usually do not occur. In severe cases, surgery or organ transplantation may be necessary to keep the affected person alive. This may also reduce the patient’s life expectancy.
When should you see a doctor?
If the affected person suddenly suffers from rapid formation of bruises or discoloration of the skin appearance, there is cause for concern. If there is dizziness, increased blood loss, disturbances in blood circulation or a decrease in physical resilience, a doctor is needed. If there is poor concentration, heavy bleeding from minor injuries, a repeated taste of blood in the mouth, or blood in the excretions, a doctor’s visit is needed. Any internal weakness, general malaise or feeling of illness should be investigated and treated. Bruising, abnormalities of the female cycle or uncontrolled bleeding from the vagina are warning signals of the organism. There is a health disorder that must be diagnosed and treated as soon as possible. In case of changes in the mucous membranes, pallor of the skin or increased sensitivity to cold stimuli, consultation with a physician should be sought. Since the disease can lead to bleeding of the organs and thus to a life-threatening condition, a visit to the doctor is recommended already at the first abnormalities. If an acute health-threatening condition occurs, an ambulance service is required. An emergency physician must be called and in parallel first aid measures must be initiated by persons present to ensure the survival of the affected person.
Treatment and therapy
Once the physician has diagnosed Werlhof’s disease, various treatment methods kick in. Stopping the acute bleeding is the immediate focus first. For this purpose, high-dose corticosteroids are used as part of “first-line therapy.” This shock therapy, which has side effects, ends after a relatively short time and can result in a thorough regression of the disease symptoms after only a few weeks. Children with a mild course of the disease do not necessarily have to undergo this therapy. Werlhof’s disease usually occurs here as a result of viral infections or occasionally after mumps, measles or rubella vaccinations for a short time, and then heals on its own. Chronic courses in adults are further treated with antibodies, so-called immunoglobulins, for example Biological Rituximab or other immunosuppressants. This is intended to combat the autoimmune disease. Manifest disease is treated with surgical removal of the spleen. The advantages of curing Werlhof’s disease must be weighed against the possible complications of surgery.Despite splenectomy, relapses occur and the risk of death is one percent.
Outlook and prognosis
In general, the prognosis for Werlhof disease in adult patients is favorable, and the overall cure rate is between 70 and 80 percent. However, for an accurate prognosis, a distinction must be made between acute and chronic forms of the disease. In acute Werlhof’s disease, complete remission (= reduction of symptoms) occurs in most cases within one month. This is especially true for affected children. In chronic courses, on the other hand, spontaneous remission occurs only in rare cases (in less than 5 percent). Under steroid therapy, this value improves considerably and rises to 25 percent, and even to two-thirds with the addition of further therapeutic measures. About 0.4 percent of adults with severe chronic Werlhof disease before the age of 40 die from intracerebral hemorrhage (bleeding in brain tissue). This likelihood increases with age and is 1.2 percent in those 40 to 60 years of age and 13 percent in those over 60 years of age. In addition, recurrences (recurrence of symptoms) often occur in Werlhof disease. In these cases, specialists often consider surgical removal of the spleen (splenectomy). However, even splenectomy does not completely neutralize the risk of recurrence.
Prevention
Because the exact cause of Werlhof disease is still under investigation and the disease is also an autoimmune disorder, preventive measures are currently unknown.
Follow-up
In most cases, there are no special or direct measures of aftercare available to the affected person in Werlhof disease, so that affected persons should ideally see a doctor very early in the course of this disease in order to prevent the occurrence of other complications and complaints. Since this is a genetic disease, it cannot usually be completely cured. Therefore, affected individuals should seek counseling, especially if they wish to have children, to prevent the disease from recurring in their descendants. As a rule, those affected by Werlhof’s disease are dependent on taking various medications. Proper dosage and likewise regular intake should always be observed, and a doctor should be consulted if there are any questions or if anything is unclear. Many of those affected also depend on regular checks and examinations of the internal organs. In this way, other damage can be detected and treated at an early stage. It is not uncommon that contact with other sufferers of the disease is also very useful, as this can also lead to an exchange of information. This information can make the patient’s daily life easier.
This is what you can do yourself
Werlhof’s disease cannot be treated by the sufferers themselves. However, the symptoms and discomfort of the autoimmune disease can be alleviated through targeted measures and a change in lifestyle. The typical skin changes can be covered up or concealed with the right clothing. This is especially necessary in the later stages of the disease, when the hemorrhages and scarring have already spread to the entire arms and neck. If severe hematomas suddenly appear, they can be cooled with the help of wraps or cold packs. In the long term, sufferers must change their diet. This will make the immune system more resistant to infections. In the case of red eyes, bleeding gums and vomiting blood, natural remedies such as aloe vera, sage, devil’s claw or ginseng can also help, in addition to the medications prescribed by a doctor. If the above measures do not alleviate the symptoms and discomfort of Werlhof’s disease, the doctor must be consulted again. The medication may need to be adjusted or there may be another condition that needs to be diagnosed. Attending a self-help group makes it easier to deal with the disease and can thus contribute to a higher quality of life.
