What are the signs and symptoms of Hepato-Pulmonary Syndrome (HPS)?

From the Guidelines

Hepatopulmonary syndrome typically presents with symptoms such as progressive shortness of breath, particularly when standing or sitting, and decreased oxygen levels that worsen in upright positions, and is characterized by a triad of liver disease, abnormal pulmonary gas exchange, and intrapulmonary vascular dilations. The most common symptoms include progressive shortness of breath (dyspnea), particularly when standing or sitting (platypnea), and decreased oxygen levels that worsen in upright positions (orthodeoxia) 1. Patients often experience fatigue, clubbing of fingers, cyanosis (bluish discoloration of skin), and spider angiomas on the skin. Individuals may report decreased exercise tolerance and frequent breathlessness during routine activities. As the condition progresses, patients might experience hypoxemia (low blood oxygen) that doesn't respond well to supplemental oxygen. Other symptoms can include hemoptysis (coughing up blood), chest pain, and signs of underlying liver disease such as jaundice, ascites, and portal hypertension.

Key Symptoms

• Progressive shortness of breath (dyspnea)
• Platypnea (shortness of breath when standing or sitting)
• Orthodeoxia (decreased oxygen levels that worsen in upright positions)
• Fatigue
• Clubbing of fingers
• Cyanosis (bluish discoloration of skin)
• Spider angiomas on the skin
• Decreased exercise tolerance
• Frequent breathlessness during routine activities
• Hypoxemia (low blood oxygen)
• Hemoptysis (coughing up blood)
• Chest pain
• Jaundice
• Ascites
• Portal hypertension The condition occurs because liver dysfunction leads to increased production of vasodilators and impaired clearance of pulmonary vasodilators, causing abnormal dilation of pulmonary blood vessels, as noted in a study published in the Journal of Hepatology 1. This creates a ventilation-perfusion mismatch where blood passes through the lungs too quickly to be properly oxygenated, resulting in the characteristic hypoxemia. According to the most recent guidelines, pulse oximetry is the screening tool for HPS in adult patients, and a PaO2 lower than 80 mmHg and or an alveolar-arterial oxygen gradient (P[A-a]O2) ≥15 mmHg while breathing ambient air, should lead to further investigations 1.

From the Research

Signs and Symptoms of Hepato-Pulmonary Syndrome

The signs and symptoms of hepato-pulmonary syndrome (HPS) include:

• Dyspnea, which is shortness of breath, particularly when in a standing position 2
• Orthodeoxia, which is an increase in dyspnea and hypoxemia when standing up, with an improvement in symptoms when lying down 2
• Platypnea-orthodeoxia, a condition where there is an increase in shortness of breath and a decrease in oxygen levels when sitting up or standing, and an improvement when lying down 3
• Hypoxemia, which is a condition where there is an abnormally low level of oxygen in the blood 4, 2

Diagnostic Features

Diagnostic features of HPS include:

• Intrapulmonary vascular dilatations and shunts, which can be detected using contrast-enhanced echocardiography, perfusion lung scanning, or pulmonary arteriography 5, 4
• An elevated alveolar-arterial gradient, which indicates impaired gas exchange in the lungs 6
• Abnormal blood flow distribution to the lungs, which can be detected using microbubble-contrast echocardiography or technetium-99m macroaggregated albumin scintigraphy 3

Clinical Presentation

HPS can be asymptomatic, but it can also present with significant symptoms, including:

• Progressive dyspnea, which can be exacerbated by underlying chronic lung disease 3
• Impaired quality of life due to hypoxemia and dyspnea 4
• Increased mortality risk, particularly if left untreated 6, 5