Porto-Sinusoidal Vascular Disease and Downhill Varices: Separate Clinical Entities?

Introduction: Porto-sinusoidal vascular disease (PSVD) is an entity characterized by the absence of histologic liver cirrhosis and the detection of specific or non-specific histological findings, irrespective of the presence of portal hypertension (PHT). The pathogenesis remains poorly understood. Pulmonary arterial hypertension (PAH), independently of the presence of PHT, can be associated with an increase in central venous pressure, which can rarely lead to the development of downhill varices in the proximal esophagus. Case Presentation: A 53-year-old woman, with an unremarkable medical and pharmacological history, presented with a 3-day history of melena, epigastric pain and hematemesis. Physical examination revealed bilateral peripheral edema of the legs. Laboratory findings included severe anemia, normal hepatic enzymology, and NT-proBNP 1,748 pg/mL. Endoscopy showed large proximal esophageal varices and mild hypertensive gastropathy. A complete liver disease etiology panel was negative. Ultrasound showed an irregular liver surface, splenomegaly, and dilated supra-hepatic veins and inferior vena cava. Echocardiogram revealed significant cardiac valve and cavity abnormalities, especially on the right side, as well as moderate to severe PAH. Diuretics therapy was started with clinical improvement. Beta-blockers were suspended due to intolerance. There were no images suggestive of portosystemic collateralization on angiography. Re-evaluation endoscopy showed large but reduced esophageal varices, without red spots. Cardiopulmonary hemodynamic assessment revealed moderate PAH (40 mm Hg). Liver hemodynamic study revealed non-clinically significant sinusoidal PHT. Transjugular liver biopsy revealed nodular regenerative hyperplasia suggestive of PSVD. Discussion/Conclusion: The case was complex and presented diagnostic challenges, illustrating the uncommonly reported association between PSVD and porto-pulmonary hypertension and the importance of the transjugular liver biopsy and pressure measurements to confirm both diagnoses. Introdu & ccedil;& atilde;o: A doen & ccedil;a vascular porto-sinusoidal (PSVD) & eacute; uma entidade caracterizada pela aus & ecirc;ncia histol & oacute;gica de cirrose hep & aacute;tica e pela detec & ccedil;& atilde;o de achados histol & oacute;gicos espec & iacute;ficos ou inespec & iacute;ficos, independentemente da presen & ccedil;a de hipertens & atilde;o portal (PHT). A sua fisiopatologia permanece pouco compreendida. A hipertens & atilde;o arterial pulmonar (PAH), independentemente da presen & ccedil;a de PHT, pode estar associada ao aumento da press & atilde;o venosa central, o que, raramente, pode levar ao desenvolvimento de varizes downhill no es & oacute;fago proximal.Caso cl & iacute;nico: Mulher de 53 anos, sem antecedentes pessoais e farmacol & oacute;gicos de relevo, com quadro de melenas, epigastralgia e hematemeses com 3 dias de evolu & ccedil;& atilde;o. O exame f & iacute;sico revelou edema perif & eacute;rico bilateral dos membros inferiores. Os achados laboratoriais revelaram anemia grave, enzimologia hep & aacute;tica normal e NT-proBNP 1748 pg/mL. A endoscopia mostrou varizes esof & aacute;gicas proximais grandes e gastropatia hipertensiva ligeira. Foi realizado um painel completo de etiologia de doen & ccedil;a hep & aacute;tica, que n & atilde;o revelou altera & ccedil;& otilde;es. A ultrassonografia mostrou uma superf & iacute;cie hep & aacute;tica irregular, esplenomeg & aacute;lia e veias supra-hep & aacute;ticas e veia cava inferior dilatadas. O ecocardiograma revelou altera & ccedil;& otilde;es significativas nas v & aacute;lvulas e cavidades card & iacute;acas, especialmente no lado direito, bem como PAH moderada a grave. A doente iniciou terap & ecirc;utica diur & eacute;tica com melhoria cl & iacute;nica. A terap & ecirc;utica com beta-bloqueantes foi suspensa por intoler & acirc;ncia. N & atilde;o se verificaram imagens sugestivas de colateraliza & ccedil;& atilde;o portossist & eacute;mica na angiografia. A endoscopia de reavalia & ccedil;& atilde;o mostrou varizes esof & aacute;gicas grandes, mas reduzidas em rela & ccedil;& atilde;o ao exame anterior, sem red spots. A avalia & ccedil;& atilde;o hemodin & acirc;mica cardiopulmonar revelou PAH moderada (40 mm Hg). O estudo hemodin & acirc;mico hep & aacute;tico revelou PHT sinusoidal n & atilde;o clinicamente significativa. A bi & oacute;psia hep & aacute;tica transjugular revelou hiperplasia regenerativa nodular sugestiva de PSVD.Discuss & atilde;o/Conclus & atilde;o: Este caso apresentou elevada complexidade e m & uacute;ltiplos desafios diagn & oacute;sticos, ilustrando a associa & ccedil;& atilde;o incomumente relatada entre PSVD e hipertens & atilde;o porto-pulmonar e a import & acirc;ncia da bi & oacute;psia hep & aacute;tica transjugular e medi & ccedil;& otilde;es de press & atilde;o para confirmar ambos os diagn & oacute;sticos.Palavras ChaveDoen & ccedil;a vascular porto-sinusoidal, Varizes downhill, Hipertens & atilde;o arterial pulmonar, Estudo hemodin & acirc;mico hep & aacute;tico, Bi & oacute;psia hep & aacute;tica transjugular