Polycythemia is a rare blood disorder in which the bone marrow produces excessive red blood cells than the usual amount and thereby thickens the blood. Polycythemia along with red blood cells may also increase white cells and platelets count. Polycythemia occurs due to a gene mutation called as JAK2V617F. The cause of this mutation is still not identified. Patients with Polycythemia condition show increased levels of hematocrit (the ratio of the volume of red blood cells to the total volume of blood) or hemoglobin (RBC count).
Primary Polycythemia is congenital and is known to occur due to a defective mechanism developed in the bone marrow. Though research is not able to pin point the exact cause of the impairment, specific gene mutation in bone marrow is said to be causing primary Polycythemia.
Secondary Polycythemia is an acquired condition, normally developed by people living in high altitude region. As these areas have poor oxygen levels, the body produces more blood cells to make up for oxygen. Smoking, lung infections, kidney tumors and cysts also lead to Polycythemia.
Symptoms of Polycythemia
Polycythemia develops gradually and may not show any symptoms initially. It may be present in the body for years and bearer may not be aware of the condition. Most often it is revealed during the blood tests carried on for some other condition. However following symptoms indicate the presence of Polycythemia:
1. Itching following a bath with warm water and redness of the skin.
2. Headache, tiredness and dizziness.
3. Breathing difficulty especially in a lying posture.
4. Enlarged spleen and bloated stomach.
5. Tingling sensation in arms and legs.
6. Excessive sweating.
Treatment of polycythemia
Polycythemia requires prompt treatment, else it may lead to blood clots and increased risk of stroke. Most often Phlebotomy (removal of small amounts of blood) is the first step in treating polycythemia. The frequency of the Phlebotomy depends upon the severity of polycythemia. Along with Phlebotomy, patient may be put on medication (hydroxyurea or anagrelide) to reduce the bone marrow ability to produce excess red blood cells. Sometimes doctor may also prescribe aspirin to prevent blood clots and aspirin will also take care of the burning sensation in the extremities.
The first report of Paraneoplastic syndrome is attributed to a French physician, M Auche, who described the involvement in a peripheral nervous system in cancer patients in 1890. This syndrome is a group of signs and symptoms caused by a substance that is produced by a tumor, or in reaction to a tumor. Paraneoplastic syndrome is defined as a rare disorder triggered by a response to neoplasm of an immune system that is altered. These are clinical syndromes produced by tumor although they occur remotely from the tumor itself.
The symptoms may be of any nature – endocrine, neuromuscular or musculoskeletal, cardiovascular, cutaneous, hematologic, gastrointestinal, renal or miscellaneous. Fever is the most common sign. Other clinical symptoms may be benign but syndromes could be varied; from a malignant carcinoid syndrome to Cushing syndrome. In cancer patients, the central nervous system involvement can be detected and it is a prominent manifestation of cancer.
Because of their protean manifestations, Paraneoplastic syndromes are managed by a medical team of physicians, including medical oncologists, surgeons, radiation oncologists, endocrinologists, hematologists, neurologists and dermatologists.
This syndrome can be due to a number of causes, including hormones or biologically active products, made by tumor, which blocks normal hormone, autoimmunity, immune-complex production and immune suppression. But, this is not caused by the primary tumor itself, or by its metastases, or by compression, infection, nutritional deficiency, or treatment of tumor.
Patients with family history of malignancies are at an increased risk and should be screened for cancer. Paraneoplastic syndromes occur typically among middle-aged to older patients. They are mostly diagnosed with cancers of the lung, breast, ovaries, or lymphatic system or lymphoma.
These symptoms sometimes appear before the diagnosis of a malignancy. When the tumor breaks immune tolerance and begins to attack the normal tissue expressing that protein, this syndrome become prominent.
Types of Paraneoplastic Syndrome
Due to the complexity of this syndrome, its clinical presentations may vary greatly. Hence, Paraneoplastic syndromes is divided into four main categories - endocrine, neurological, mucocutaneous, and hematological syndromes as well as a host of others including rheumatologic, renal, gastrointestinal, Cutaneous and miscellaneous.
Fever, dysgeusia, anorexia, and cachexia are included under miscellaneous category. Fever is associated with lymphomas, acute leukemias, sarcoma and carcinomas.
Rheumatologic syndrome includes polyarthritis, particularly in patients with myelomas, lymphomas, acute leukemia, malignant tumors of the colon, pancreas, prostrate. Scleroderma may precede the evidence of tumor. Widespread form of malignancies of breast, uterus and lung can be observed.
Renal syndrome is characterized by hypokalemic nephropathy, and it occurs in 50% of individuals with ACTH secreting tumors of the lung. Nephrotic syndrome is observed in patients with Hodgkin lymphoma, non Hodgkin lymphoma, malignancies of lung, thyroid, colon, breast, ovary and pancreatic head.
Watery diarrhea and electrolyte imbalance, leads to asthenia, confusion and exhaustion, all characteristic of gastrointestinal syndromes. Severe prostaglandins lead to malabsorption and unavailability of nutrients.
Hematologic syndromes are related to anemia, thrombocytosis, disseminated intravascular coagulation, and leukemoid reactions from several types of cancers. Leukemoid reactions due to immature white blood cells in the blood stream are accompanied by hypereosinophilia and itching.
Cutaneous syndromes are manifested by itching and flushes, alopecia, or hypertrichosis. Blackish pigmentation of the skin usually occurs in patients with metastatic melanomas or pancreatic tumors.
Endocrine syndromes resemble common endocrine disorders. Increased serum and urine cortisol concentrations are common examples of this malignancy.
Neurologic or neuromuscular syndromes relate to cancers and such disorders affect 6% of all patients with cancer. Neuromuscular symptoms mimic common neurological conditions. Myasthenia gravis is a common Paraneoplastic syndrome in patients with thymoma, a malignancy arising from epithelial cells of the thymus.
Paraneoplastic limbic encephalitis is characterized by depression, seizures, irritability and short term memory loss and neurologic symptoms rapidly resemble dementia.
Paraneoplastic cerebellar degeneration causes gait difficulties, dizziness, nausea and diplopia. Sensory neuropathy affects lower and upper extremities and there is progressive memory loss, either symmetric or asymmetric.
As Paraneoplastic syndromes may evolve over weeks to months, they usually stabilize regardless whether the patient's underlying condition improves or worsens. Since this is the first manifestation of cancer, patients should undergo investigation for cancer. Other diagnoses are membrane disease, dementia, encephalopathy, encephalitis, myelitis, anemia, bone marrow failure, chronic fatigue syndrome, mixed connective tissue disease, polycythemia vera and polymyalgia rheumatica among others.
Complete laboratory tests in blood, urine, cerebrospinal fluid, protein electrophoresis, assays for auto antibodies, Endoscopy and imaging studies including whole body scans and FDG-PET scans are prescribed to detect extremely small tumors especially useful for patients with neurologic diseases.
Treatment of Paraneoplastic Syndrome
Treatment for this syndrome varies depending upon the type and location of tumors. The first option of treatment of the underlying tumor is by therapeutic protocols, a combination of surgery, radiation, chemotherapy. Second therapeutic option is for patients with clearly identifiable antibodies by intravenous immunoglobulins, steroids, or plasma exchange.
Surgical treatment is typically directed toward the underlying neoplasm although some Paraneoplastic disorders may resolve rapidly without surgery on the primary tumor.
Pruritus is a skin disease associated with conditions pertaining to autoimmune disorders and other advanced complications like liver cirrhosis. Pruritus cases vary from mild to complex as the symptoms associated with the condition generally aggravate with age. Untreated pruritus can be a big hindrance to an individual's normal life as it interferes with sleep patterns leading to irritability and stress. In some cases the causative agent for this disease is the Hepatitis C virus which accounts in 20% of the population.
Pruritus occurs mostly in the wrist and ankles as a scratch. The intensity of the itch facilitates other factors such as eczema, impetigo and induced urticaria. The immune response releases histamines causing allergic reactions. The association of pruritus with allergic reactions is identified by the presence of serotonin. The serotonin release caused because of pruritus occurs in case of preexisting medical conditions such as polycythemia, lymphoma and cholestasis.
The identification and diagnosis of pruritus is closely associated with the evaluation of dermatological condition of the patient. Progressive pruritus is noticed with contact dermatitis, urticaria, scabies, pediculous infections of the genital region, folliculitis and xerotic eczema.The factors associated with the respective causes along with pruritus are fomites, dust, bites, chemicals and photosensitivity. Atopic dermatitis induces aggressive form of pruritus. The intense forms of atopic dermatitis associated pruritus usually occur in pregnant women, infants and veterans. Systemic causes of pruritus involve preexisting conditions such as Hodgkin's lymphoma, HIV, scleroderma, multiple myeloma, chronic renal failure and many other conditions.
Pruritus diagnosis involves meticulous procedures in examining the exact history of the patient to rule out other forms of allergic reactions. The information pertaining to the patient history includes several factors such as travel zones, food and occupation. Differentiation of non-septic and septic forms is done to identify systemic involvement of the disease. Secondary infections and malignancies associated have to be identified. Specific sites are identified on the skin reaction to respective drug therapy is carefully monitored.
Avoid stress which delays the healing process. Topical creams are prescribed for allergic forms of pruritus. Skin cleansing is an important step. It is predominantly done to prevent secondary infections and conditions such as psoriasis. Patients who have history of sunburn and sensitivity to extreme temperatures need to relieve the stress upon immune system that reacts immediately to such conditions. Hydration of the skin helps in the restoration of the skin cells to facilitate the process of healing. Change of diet and lifestyle is prescribed to patients who are sensitive foods such as nuts, seafood etc. Patients with a history of contact dermatitis are advised to use skin safe deodorants, shampoos and bubble bath solutions. Oral antihistamines are recommended to ease the immune system's reactivity. Hot water bath and tight clothing are to be avoided in case of pruritus as it may aggravate the condition. Topical creams containing corticosteroids are recommended during the onset of a pruritic reaction. In case of secondary infections associated with pruritus, antibiotics are given.
Bibliography / Reference
Collection of Pages - Last revised Date: January 20, 2019