Although commonly associated with liver problems, jaundice can be a symptom of many different conditions, including rare blood diseases such as nocturnal paroxysmal haemoglobinuria (PNH). Understanding what jaundice actually is, what its causes and symptoms are, and what the diagnosis is, can be key to effective treatment and minimising the risk of health complications. Let's take a closer look at what yellow colouring of the skin and eyes means, and why this symptom should not be ignored.
Jaundice is a condition in which the skin, mucous membranes and whites of the eyes take on a yellow tinge. It is caused by an excessive concentration of bilirubin in the blood - a bile pigment that is formed by the breakdown of the haemoglobin contained in red blood cells. Jaundice is not a disease, but a symptom that can result from a variety of causes, including problems with the liver, bile ducts and even the blood.
- Jaundice is a symptom that should not be underestimated - on the contrary, it always requires diagnosis, as it may be the first sign of disease. The exception is, for example, physiological jaundice in newborns as a result of enzymatic immaturity of the liver. The management varies depending on the cause (aetiology) of jaundice. For example, in Gilbert's syndrome (not so rare, occurring in approximately 5-10% of the Caucasian population), it comes down to avoiding factors that exacerbate hyperbilirubinaemia, i.e. prolonged starvation, excessive stress, physical activity or certain drugs - explains Dr Patryk Lipinski of the Saventic Foundation.
Causes of symptoms
Jaundice is divided into three main types, depending on its causes. The first type, pre-hepatic (haemolytic) jaundice, is caused by excessive breakdown of red blood cells, leading to increased bilirubin production. This can be associated with diseases such as haemolytic anaemia or nocturnal paroxysmal haemoglobinuria (PNH). Hepatic jaundice, the second type, results from damage to liver parenchymal cells, leading to impaired bilirubin metabolism. The most common causes are parenchymal liver disease, i.e. inflammation, cirrhosis or toxic liver damage. The third type is extrahepatic (mechanical) jaundice, caused by a blockage in the outflow of bile, for example by gallstones, tumours of the bile ducts or the pancreas.
When does bile cease to be natural?
Jaundice can be accompanied by a variety of symptoms, which vary depending on the cause. The most characteristic of these is a yellow colouring of the skin and eyes, but other symptoms are also often present. These include intense itching of the skin, especially in the case of extrahepatic jaundice, and dark-coloured urine, resulting from too high bilirubin. Discolouration of the stool is also frequently observed, which can turn a light, almost white colour in cases of mechanical jaundice.
- A change in the colour of the urine to dark and discolouration of the stool (light stool) always require absolute medical consultation and diagnosis for the cause of cholestatic jaundice, i.e. associated with damage to the liver parenchyma or biliary disease - explains Dr Patryk Lipinski of the Saventic Foundation.
Other symptoms, such as fatigue, weakness or abdominal pain, may indicate more serious liver problems.
How do you recognise jaundice?
The diagnosis of jaundice requires a detailed analysis aimed at identifying the cause.
- We first perform basic laboratory tests, i.e. analysis of bilirubin concentration (divided into fractions: direct, indirect) and liver enzyme activity (AST, ALT, GGTP, ALP), as well as for the evaluation of blood count (and other haemolysis parameters). In cases of cholestatic jaundice, imaging studies should always be performed, starting with abdominal ultrasound. Occasionally, more specialised imaging studies such as computed tomography (CT) or magnetic resonance imaging (MRI) are required in the diagnosis - allowing an accurate assessment of the liver and bile ducts. Liver biopsy, which used to be the gold standard for the diagnosis of certain liver conditions, now has limited indications due to its invasive nature- adds Dr Patryk Lipinski of the Saventic Foundation.
How to curb the symptoms?
The treatment of jaundice is strictly dependent on the cause. In haemolytic jaundice, as with nocturnal paroxysmal haemoglobinuria (PNH), therapy focuses on controlling the cause of excessive haemolysis. PNH is a rare condition that involves the abnormal destruction of red blood cells, leading to various complications, including jaundice. Treatment of PNH involves the use of special drugs that block the part of the immune system responsible for attacking and destroying erythrocytes. These drugs, called complement inhibitors, protect red blood cells from destruction.
- Nocturnal paroxysmal haemoglobinuria (PNH) is a rare disease of the haematopoietic system that is characterised by, among other things, uncontrolled breakdown (haemolysis) of red blood cells. PNH manifests as severe anaemia and jaundice, in addition to a propensity for thromboembolic episodes and bone marrow failure. It requires specialised diagnosis and treatment, which currently focuses on causal treatment (monoclonal antibodies) - explains Dr Patryk Lipinski of the Saventic Foundation.
For hepatic jaundice, treatment of the underlying disease is key. If the cause is viral hepatitis, antiviral drugs or immunosuppressive therapy may be necessary. Mechanical jaundice, on the other hand, requires removal of the bile duct obstruction, which often involves surgical or endoscopic intervention. In some cases, dietary changes can help manage symptoms.
Why should jaundice not be ignored?
Jaundice, although often mistaken for a disease, is an important body alarm signal that should not be ignored. Successful diagnosis and treatment of jaundice depend on the correct diagnosis of its cause. It is worth remembering that this symptom can accompany both common liver diseases and rare blood diseases such as PNH. Taking care of liver health and regular preventive examinations can help to detect and treat conditions leading to jaundice quickly.
About the Saventic Foundation
The Saventic Foundation was created for patients who remain undiagnosed for months or years and are looking for the right specialist or medical centre. The organisation's main task is to promote faster diagnosis of rare diseases. To this end, the Foundation has created and provides, free of charge, an application through which the patient can securely submit a questionnaire and medical data. The documents received are analysed by both innovative artificial intelligence algorithms and a medical consortium specialised in rare diseases.