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Budd–Chiari Syndrome
Budd–Chiari syndrome is a condition when an occlusion or obstruction in the hepatic veins prevent normal outflow of blood from the liver. The symptoms are non-specific and vary widely, but it may present with the classical triad of abdominal pain, ascites, and liver enlargement. Untreated Budd-Chiari syndrome can result in liver failure. It is usually seen in younger adults, with the median age at diagnosis between 35 and 40 years, and it has a similar incidence in males and females. It is a very rare condition, affecting one in a million adults. The syndrome can be fulminant, acute, chronic, or asymptomatic. Subacute presentation is the most common form. Patients with hypercoagulable disorders, polycythemia vera, and hepatocellular carcinoma are at a higher risk of having Budd-Chiari syndrome. Signs and symptoms The acute syndrome presents with rapidly progressive and severe upper abdominal pain, yellow discoloration of the skin and whites of the eyes, liver e ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hepatology
Hepatology is the branch of medicine that incorporates the study of liver, gallbladder, biliary tree, and pancreas as well as management of their disorders. Although traditionally considered a sub-specialty of gastroenterology, rapid expansion has led in some countries to doctors specializing solely on this area, who are called hepatologists. Diseases and complications related to viral hepatitis and alcohol are the main reason for seeking specialist advice. More than two billion people have been infected with hepatitis B virus at some point in their life, and approximately 350 million have become persistent carriers. Up to 80% of liver cancers can be attributed to either hepatitis B or hepatitis C virus. In terms of Mortality rate, mortality, the former is second only to smoking among known agents causing cancer. With more widespread implementation of vaccination and strict Screening (medicine), screening before blood transfusion, lower infection rates are expected in the futur ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Splenomegaly
Splenomegaly is an enlargement of the spleen. The spleen usually lies in the left upper quadrant (LUQ) of the human abdomen. Splenomegaly is one of the four cardinal signs of ''hypersplenism'' which include: some reduction in number of circulating blood cells affecting granulocytes, erythrocytes or platelets in any combination; a compensatory proliferative response in the bone marrow; and the potential for correction of these abnormalities by splenectomy. Splenomegaly is usually associated with increased workload (such as in hemolytic anemias), which suggests that it is a response to hyperfunction. It is therefore not surprising that splenomegaly is associated with any disease process that involves abnormal red blood cells being destroyed in the spleen. Other common causes include congestion due to portal hypertension and infiltration by leukemias and lymphomas. Thus, the finding of an enlarged spleen, along with caput medusae, is an important sign of portal hypertension ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Protein S Deficiency
Protein S deficiency is a disorder associated with increased risk of venous thrombosis. Protein S, a vitamin K-dependent physiological anticoagulant, acts as a nonenzymatic cofactor to activate protein C in the degradation of factor Va and factor VIIIa. Decreased (antigen) levels or impaired function of protein S leads to decreased degradation of factor Va and factor VIIIa and an increased propensity to venous thrombosis. Some risk factors for deep vein thrombosis or pulmonary embolism in patients with protein S deficiency include pregnancy, older age, hormonal therapy, consumption of birth control pills, recent surgery, trauma, and physical inactivity. Protein S circulates in human plasma in two forms: approximately 60 percent is bound to complement component C4b Beta chain, β-chain while the remaining 40 percent is free, only free protein S has activated protein C cofactor activity Signs and symptoms Among the possible presentation of protein S deficiency are: Cause In terms ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Protein C Deficiency
Protein C deficiency is a rare genetic trait that predisposes to thrombotic disease. It was first described in 1981. The disease belongs to a group of genetic disorders known as thrombophilias. Protein C deficiency is associated with an increased incidence of venous thromboembolism (relative risk 8–10), whereas no association with arterial thrombotic disease has been found. Presentation Symptoms People with a mild protein C deficiency often do not exhibit any symptoms, even into adulthood. However, they are at higher risk for venous thromboembolism, especially deep vein thrombosis. Babies with severe protein C deficiency may experience symptoms within hours or days of their birth. Some symptoms include blood clots primarily in the blood vessels of the limbs ( purpura fulminans, disseminated intravascular coagulation), abnormal bleeding into affected areas, and large purple patches or spots anywhere on the body. Complications Protein C is vitamin K-dependent. Patients with Pro ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Factor II Mutation
Prothrombin G20210A is a genotypic trait that provides a prompter coagulation response. It increases the risk of blood clots including from deep vein thrombosis, and of pulmonary embolism. One copy of the mutation increases the risk of a blood clot from 1 in 1,000 per year to 2.5 in 1,000. Two copies increases the risk to up to 20 in 1,000 per year. Most people never develop a blood clot in their lifetimes. It is due to a specific gene mutation in which a guanine is changed to an adenine at position 20210 of the DNA of the prothrombin gene. Other blood clotting pathway mutations that increase the risk of clots include factor V Leiden. Prothrombin G20210A was identified in the 1990s. About 2% of Caucasians carry the variant, while it is less common in other populations. It is estimated to have originated in Caucasians about 24,000 years ago. Signs and symptoms The variant causes elevated plasma prothrombin levels ( hyperprothrombinemia), possibly due to increased pre-mRNA stab ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Factor V Leiden
Factor V Leiden (rs6025 or ''F5'' p.R506Q) is a variant (mutated form) of human factor V (one of several substances that helps blood clot), which causes an increase in blood clotting (hypercoagulability). Due to this mutation, protein C, an anticoagulant protein that normally inhibits the pro-clotting activity of factor V, is not able to bind normally to factor V, leading to a hypercoagulable state, i.e., an increased tendency for the patient to form abnormal and potentially harmful blood clots. Factor V Leiden is the most common hereditary hypercoagulability (prone to clotting) disorder amongst ethnic Europeans. It is named after the Dutch city of Leiden, where it was first identified in 1994 by Rogier Maria Bertina under the direction of (and in the laboratory of) Pieter Hendrik Reitsma. Despite the increased risk of venous thromboembolisms, people with one copy of this gene have not been found to have shorter lives than the general population. It is an autosomal dominant genetic ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Paroxysmal Nocturnal Hemoglobinuria
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, acquired, life-threatening disease of the blood characterized by destruction of red blood cells by the complement system, a part of the body's innate immune system. This destructive process occurs due to deficiency of the red blood cell surface protein DAF, which normally inhibits such immune reactions. Since the complement cascade attacks the red blood cells within the blood vessels of the circulatory system, the red blood cell destruction (hemolysis) is considered an ''intravascular'' hemolytic anemia. There is ongoing research into other key features of the disease, such as the high incidence of venous blood clot formation. Research suggests that PNH thrombosis (a blood clot) is caused by both the absence of GPI-anchored complement regulatory proteins (CD55 and CD59) on PNH platelets and the excessive consumption of nitric oxide (NO). PNH is the only hemolytic anemia caused by an ''acquired'' (rather than inherited) intr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Antiphospholipid Syndrome
Antiphospholipid syndrome, or antiphospholipid antibody syndrome (APS or APLS), is an autoimmune, hypercoagulable state caused by antiphospholipid antibodies. APS can lead to blood clots (thrombosis) in both arteries and veins, pregnancy-related complications, and other symptoms like low platelets, kidney disease, heart disease, and rash. Although the exact etiology of APS is still not clear, genetics is believed to play a key role in the development of the disease. Diagnosis is made based on symptoms and testing, but sometimes research criteria are used to aid in diagnosis. The research criteria for definite APS requires one clinical event (i.e. thrombosis or pregnancy complication) and two positive blood test results spaced at least three months apart that detect lupus anticoagulant, anti-apolipoprotein antibodies, and/or anti-cardiolipin antibodies. Antiphospholipid syndrome can be primary or secondary. • Primary antiphospholipid syndrome occurs in the absence of any ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Myeloproliferative Disorders
Myeloproliferative neoplasms (MPNs) are a group of rare blood cancers in which excess red blood cells, white blood cells or platelets are produced in the bone marrow. ''Myelo'' refers to the bone marrow, ''proliferative'' describes the rapid growth of blood cells and ''neoplasm'' describes that growth as abnormal and uncontrolled. The overproduction of blood cells is often associated with a somatic mutation, for example in the JAK2, CALR, TET2, and MPL gene markers. In rare cases, some MPNs such as primary myelofibrosis may accelerate and turn into acute myeloid leukemia. Classification MPNs are classified as blood cancers by most institutions and organizations. In MPNs, the neoplasm (abnormal growth) starts out as benign and can later become malignant. As of 2016, the World Health Organization lists the following subcategories of MPNs: * Chronic myeloid leukemia (CML) * Chronic neutrophilic leukemia (CNL) * Polycythemia vera (PV) * Primary myelofibrosis (PMF) ** PMF, pr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cirrhosis
Cirrhosis, also known as liver cirrhosis or hepatic cirrhosis, chronic liver failure or chronic hepatic failure and end-stage liver disease, is a chronic condition of the liver in which the normal functioning tissue, or parenchyma, is replaced with scar tissue (fibrosis) and regenerative nodule (medicine), nodules as a result of chronic liver disease. Damage to the liver leads to repair of liver tissue and subsequent formation of scar tissue. Over time, scar tissue and nodules of regenerating hepatocytes can replace the parenchyma, causing increased resistance to blood flow in the liver's capillaries—the hepatic sinusoids—and consequently portal hypertension, as well as impairment in other aspects of liver function. The disease typically develops slowly over months or years. Stages include compensated cirrhosis and decompensated cirrhosis. Early symptoms may include Fatigue (medicine), tiredness, Asthenia, weakness, Anorexia (symptom), loss of appetite, weight loss, unexpla ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Caudate Lobe Of Liver
In human anatomy, the liver is divided grossly into four parts or lobes: the right lobe, the left lobe, the caudate lobe, and the quadrate lobe. Seen from the front – the diaphragmatic surface – the liver is divided into two lobes: the right lobe and the left lobe. Viewed from the underside – the visceral surface – the other two smaller lobes, the caudate lobe and the quadrate lobe, are also visible. The two smaller lobes, the caudate lobe and the quadrate lobe, are known as superficial or accessory lobes, and both are located on the underside of the right lobe. The falciform ligament, visible on the front of the liver, makes a superficial division of the right and left lobes of the liver. From the underside, the two additional lobes are located on the right lobe. A line can be imagined running from the left of the vena cava and all the way forward to divide the liver and gallbladder into two halves. This line is called Cantlie's line and is used to mark the division b ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lactic Acidosis
Lactic acidosis refers to the process leading to the production of lactate by anaerobic metabolism. It increases hydrogen ion concentration tending to the state of acidemia or low pH. The result can be detected with high levels of lactate and low levels of bicarbonate. This is usually considered the result of illness but also results from strenuous exercise. The effect on pH is moderated by the presence of respiratory compensation. Lactic acidosis is usually the result of tissue hypoxia which is not the same as arterial hypoxia. Adequate circulation of blood and perfusion of metabolizing tissue to meet demand is necessary to prevent tissue hypoxia. Lactic acidosis can also be the result of illnesses, medications, poisonings or inborn errors of metabolism that interfere directly with oxygen utilization by cells. The symptoms are generally attributable to the underlying cause, but may include nausea, vomiting, shortness of breath, and generalised weakness. The diagnosis is made ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
