A long-standing hindrance in flow as in chronic PVT, also known as portal cavernoma, can cause an increase in the hepatic venous pressure gradient (portal hypertension) and increased blood flow through subsidiary veins. This may lead to ascites or bleeding from varices.An infected thrombus may become septic, known as pylephlebitis; if blood cultures are positive for growth at this time, the most common organism is Bacteroides. Diagnosis
The diagnosis of portal vein thrombosis is usually made with imaging confirming a clot in the portal vein; ultrasound is the least invasive method and the addition of Doppler technique shows a filling defect in blood flow. PVT may be classified as either occlusive or nonocclusive based on evidence of blood flow around the clot. An alternative characterization based on site can be made: Type 1 is limited to the main portal vein, Type 2 involves only a portal vein branch (2a, or 2b if both branches are affected), and Type 3 if clot is found throughout both areas. Determination of condition severity may be derived via computed tomography (CT) with contrast, magnetic resonance imaging (MRI), or MR angiography (MRA). Those with chronic PVT may undergo upper endoscopy (esophagogastroduodenoscopy, EGD) to evaluate the presence of concurrent dilated veins (varices) in the stomach or esophagus. Other than perhaps slightly elevated transaminases, laboratory tests to evaluate liver function are typically normal.
Currently, BHC is diagnosed through the identification of the phenotypic symptoms with a genetic test to confirm the mutation in the TITF-1 gene. Management
There are no cures for benign hereditary chorea, but there are several medications that have been shown to treat the symptoms of the disorder. Levodopa has been shown to improve the effects of chorea on a patients gait within 6 weeks of starting treatments. However, this medication did have the side effect of "dose-dependent dyskinesia." Methylphenidate has also been used to improve chorea symptoms. Steroids have been used to treat BHC, but due to the presence of dystonia, it is questionable whether these patients actually had BHC. Epidemiology
In 1978, BHC was reported to have a frequency of 1:500,000 within a Welsh population, but due to how some symptoms are hard to distinguish, it was concluded that the number is underrespresentative of actual clinical cases. Results for correlation between sex and distribution of the disorder are inconclusive. See also
Chorea
Huntingtons disease

References


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