Symptoms
In the case of cancerous (oncological) diseases of the blood, there are often, in addition to subtype-specific signs of disease such as immune deficiency, anaemia or changes in coagulability, so-called general symptoms such as fever, night sweat, weakness, weight loss and fatigue, which could also be an expression of various alternative diseases. Other symptoms such as lymph node swelling and lymph node pain after alcohol consumption in the case of so-called Hodgkin’s lymphoma or bone pain and kidney damage (with its consequences) in the case of so-called multiple myeloma are quite clear clinical pictures that put the experienced physician on the right track quite quickly. There are two subtypes of coagulation disorders with reduced blood coagulability (hemorrhagic diathesis).
If the disease is based on a reduction in the function or number of blood platelets (thrombocytes), it is mainly manifested by so-called thrombocytic bleeding such as pinhead bleeding of the skin (petechiae), nosebleeds (epistaxis) and prolonged menstrual bleeding (menorrhagia). If the problem is a deficiency or malfunction of coagulation factors, so-called plasmatic bleeding such as bruises (haematoma), muscle and joint bleeding (haemarthros) can be expected. Depending on their severity, bleeding in the gastrointestinal tract with blood in or on the stool is also possible.
In the case of coagulation disorders (thrombophilia) with increased coagulability, the symptoms are caused by a clot (thrombus) blocking a vessel and the tissue behind it then not being supplied with oxygen (and other things such as sugar), or only insufficiently so. Tissue damage can also be damaged by the failure to remove metabolic products. If the undersupplied tissue is muscle, pain and cramps are to be expected.
However, a clot (embolus) causes more damage to the heart (myocardial infarction), brain (apoplexy) and lungs (pulmonary embolism). A clot in a larger vein, for example in the leg (leg vein thrombosis) leads to swelling and pain. Depending on the cause of anemia, there are many other possible symptoms, but the anemia itself can lead to fatigue, lack of concentration and muscle weakness, especially when under exertion to breathlessness (dyspnoea), as well as a faster pulse (tachycardia) and can make the heartbeat noticeable (palpitations).Furthermore, patients with anemia are often pale and tend to cool and sometimes bluish discolored limbs (cyanosis).
Also lips and tongue are often so colored. Changes in the blood, which are to be understood as a reaction of the body in the sense of an inflammatory event, can manifest themselves in tiredness, exhaustion and fever. Hematooncological diseases are always based on a misregulation in the formation and multiplication of blood cells.
This misregulation finds its molecular genetic counterpart in a genetic change (mutation), which stimulates the affected cell to multiply abnormally. This mutation can in turn be caused by carcinogenic substances, radiation or an innate predisposition. The development of cancer is always a multi-stage process influenced by numerous factors.
In addition to an increased degenerative tendency of the cancer cell in particular, an ineffective immune system is needed, which does not fulfil its task of identifying degenerating cells and removing them from circulation. If a defense cell degenerates outside the bone marrow (in a lymph node), this is called lymph node cancer (lymphoma), which has many subtypes. If the problem lies in the bone marrow itself, depending on the type, one speaks of a blood cancer (leukemia), or of so-called myelodysplastic or myeloproliferative syndromes, which also include many subtypes.
Congenital genetic changes (mutations) are also possible as a cause, but are very rare. A distinction is made between congenital and acquired coagulation disorders. Congenital coagulation disorders are based on inherited genetic defects, the most common of which are hemophilia A and B and Von Willebrand-Jürgens syndrome among the plasmatic diseases (coagulopathies), the very rare Bernard-Soulier syndrome and the equally rare Glanzmann-Naegeli disease among the thrombocytic diseases (thyrombopathies).
Somewhat more frequent is the hereditary hemorrhagic telangiectasia (Osler’s disease). Acquired disorders of plasmatic coagulation are usually caused by a lack of vitamin K (often caused by medication, but also by malnutrition or absorption disorders). More rarely, an immune reaction of the body against its own coagulation factors or a lack of factors due to excessive consumption is the cause.
Insufficient production (synthesis) of clotting substances in a diseased liver can also explain a lack of clotting factors. The so-called Purpura-Schoenlein-Henoch is probably caused by infections or medication. Important acquired disorders of platelet coagulation are, above all, immune thrombocytopenia, an autoimmune disease that is directed against the body’s own blood platelets, and heparin-induced thrombocytopenia, in which an immune reaction occurs under heparin therapy.
There are two types, with type 2 being the much more dangerous. Another disease that leads to an enlarged spleen (splenomegaly) can also cause a drop in the number of blood platelets (thrombocytes) due to complications (hyperspenism). The intake of acetylsalicylic acid (ASA, aspirin) and related substances of the group of non-steroidal anti-inflammatory drugs (NSAIDs) irreversibly restrict the functionality of the blood platelets.
Only new thrombocytes, which are reproduced over a period of days, are fully functional again. Anemia is a disease with many possible causes. A rough distinction is made between a lack of volume (after actual blood loss), blood destruction (haemolysis) – in which red blood cells (erythrocytes), which contain the carrier protein for oxygen (haemoglobin), are destroyed, a distribution disorder in which the red blood cells collect in an enlarged spleen, and a formation disorder.
Blood destruction, on the other hand, can be caused by defective red blood cells or by infectious diseases, medication, autoimmune diseases, etc. An educational disorder is usually caused by a deficiency (iron, folic acid or vitamin B12), but it can also be caused by chronic renal insufficiency or a cancerous disease (either directly related to the blood-forming system such as aplastic anemia, myelodysplastic syndrome or a tumor). A change in blood count in the sense of an inflammatory reaction can be triggered by an infection, an autoimmune disease, but also by a tumorous disease or injury or surgery.
In addition to the conscientious performance of a medical interview (anamnesis) and examination, haematological diseases usually require laboratory tests of the patient’s blood.In some cases, but especially if a hemato-oncological disease is suspected, a bone marrow examination is necessary. For this purpose, a tissue sample is taken from the hematopoietic bone marrow, usually from the iliac crest, under local anesthesia with a needle and examined under the microscope using various staining techniques. Depending on the cause of the hematological disease, the type and extent of therapeutic measures vary greatly.
While a simple iron deficiency anaemia can usually be cured by the addition of iron preparations, cancerous (oncological) diseases sometimes require complicated combination therapies. For blood cancers (leukaemias), for example, multidrug chemotherapy and stem cell transplantation are the most common options, while lymphomas can also be treated by radiological irradiation and surgery. In general, a consistent distinction must always be made between symptomatic therapies, which do not address the underlying disease, and causal ones, which address the causal problem. For a large number of hereditary diseases in particular, this is still not possible today despite enormous progress in research.