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Pulmonary veno-occlusive disease may have a genetic basis. Published reports have indicated fatal occurrences that appeared to possess a familial pattern, more to the point, a germline mutation. [7] The pathophysiology of veno-occlusive disease culminates in occlusion of the pulmonary blood vessels.
Hepatic veno-occlusive disease (VOD) or veno-occlusive disease with immunodeficiency is a potentially life-threatening condition in which some of the small veins in the liver are obstructed. It is a complication of high-dose chemotherapy given before a bone marrow transplant or excessive exposure to hepatotoxic pyrrolizidine alkaloids .
Portal hypertension is defined as increased portal venous pressure, with a hepatic venous pressure gradient greater than 5 mmHg. [3] [4] Normal portal pressure is 1–4 mmHg; clinically insignificant portal hypertension is present at portal pressures 5–9 mmHg; clinically significant portal hypertension is present at portal pressures greater than 10 mmHg. [5]
Chronic venous insufficiency (CVI) is a medical condition characterized by blood pooling in the veins, leading to increased pressure and strain on the vein walls. [1] The most common cause of CVI is superficial venous reflux, which often results in the formation of varicose veins, a treatable condition. [2]
Secondary Budd–Chiari syndrome, which is very rare compared to the primary variant, is due to compression of the hepatic vein by an outside structure (such as a tumor or polycystic kidney disease). [15] Budd–Chiari syndrome is also seen in tuberculosis, congenital venous webs and occasionally in inferior vena caval stenosis.
Pulmonary hypertension (PH or PHTN) is a condition of increased blood pressure in the arteries of the lungs. [7] Symptoms include shortness of breath, fainting, tiredness, chest pain, swelling of the legs, and a fast heartbeat.
Generally speaking the risk for thrombosis increases over the life course of individuals, depending on life style factors like smoking, diet, and physical activity, the presence of other diseases like cancer or autoimmune disease, while also platelet properties change in aging individuals which is an important consideration as well.
Eukaryotic translation initiation factor 2 alpha kinase 4 (E1F2AK4) is mutated causes heritable pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis. [7] Group 1.3 PAH includes disease that is due to drug or toxin exposures.