The circulatory system of a human being is dependent on a fine equilibrium of blood constituents red blood cells (RBCs), white blood cells (WBCs), and platelets to maintain a smooth operation. There are some disorders that will interfere with this equilibrium, with dire consequences following. Two such disorders are Polycythemia Vera and Thrombocytopenia. Though they affect various blood constituents, both are able to cause significant health consequences and in most instances require emergency medical attention. Let us examine these disorders more closely, together with their causes, symptoms, diagnosis, and treatment.
Polycythemia Vera: A Blood Thickening Disorder
Polycythemia Vera (PV) is a rare, long-term blood cancer that falls under myeloproliferative disorders. The excess thickens the blood, leading to its reduced flow and predisposing it to clotting, strokes, and heart attacks.
Causes and Risk Factors
The primary cause of PV is a JAK2 gene mutation. While PV is not inherited in the majority of cases, it does come on more frequently in people over age 60 and somewhat more frequently in men.
Symptoms and Signs
Patients may be asymptomatic at an early stage, but as the illness advances, some or all of the following may ensue:
- Headaches and dizziness
- Blurred vision
- Elevated blood pressure
- Ruddy skin, especially of the face
- Fatigue
- Enlarged spleen (splenomegaly)
- Clotting disorders, such as deep vein thrombosis (DVT) or stroke, are the most serious of the complications.
Diagnosis
Diagnosis begins with a complete blood count (CBC), which in most instances is increased in red blood cell mass, hematocrit, and hemoglobin. Other tests are:
- JAK2 mutation test
- Bone marrow biopsy
- Measurement of level of erythropoietin (usually low in PV)
Treatment
Although PV cannot be cured, it can be effectively controlled. The most crucial aim of treatment is blood thinning and prevention of clotting. Treatment modalities are:
Phlebotomy – Regular removal of blood for reduction of red cell mass
- Low-dose aspirin – For prevention of blood clots
- Cytoreductive therapy – With the use of medications like hydroxyurea or interferon to maintain a check on the bone marrow
- Ruxolitinib – A JAK inhibitor for refractory patients
Lifestyle changes such as drinking lots of water, not smoking, and exercising regularly can also contribute towards treatment.
Thrombocytopenia: Dangerously Low Platelet Counts
Thrombocytopenia is an illness that leads to an abnormally low platelet count. Platelets are very important for blood clotting, and their lack can lead to serious bleeding, bruising, and impaired healing of wounds.
Causes and Types
Thrombocytopenia can be caused by a variety of factors and is classified into three types based on the cause of its occurrence:
- Decreased production of platelets – Due to disease of the bone marrow, leukemia, certain infections (like HIV or hepatitis C), or chemotherapy.
- Excess destruction of platelets – As in autoimmune conditions like immune thrombocytopenic purpura (ITP), lupus, or due to side effects of certain medications (like heparin).
- Sequestration – Normally due to enlargement of the spleen sequestering the platelets.
- Other causative factors include alcohol abuse, pregnancy, or genetic conditions.
Symptoms
Depending on severity, symptoms are:
- Easy or unexplained bruising
- Prolonged bleeding from cuts
- Heavy menstrual bleeding
- Bleeding in urine or stool
- Fatigue in severe cases due to blood loss
Diagnosis
A CBC test is the first step to determine low platelet count. Other tests can be:
- Peripheral blood smear
- Bone marrow biopsy
- Antibody testing for autoimmune-related thrombocytopenia
- Liver and spleen imaging
Treatment
Treatment depends on the underlying cause and severity:
- Mild cases do not require treatment and are reviewed on a regular basis.
- Drug-induced cases are managed by the withdrawal of the offending drug.
- Autoimmune causes are managed with corticosteroids, intravenous immunoglobulin (IVIG), or splenectomy in fatal cases.
- Platelet transfusions are administered in severe cases of bleeding.
- In chronic cases like ITP, thrombopoietin receptor agonists like eltrombopag may be administered to boost platelet production.
Conclusion:
Diseases of the blood like Polycythemia Vera and Thrombocytopenia may appear lightyears apart, but both disrupt the critical equilibrium of the blood system. Early detection, focused therapy, and vigilant monitoring are imperative in managing these diseases and preventing complications. With continuous advances in genetic and immunological research, the future holds more specific and effective treatments for both.