Jaundice
Jaundice occurs when the skin, mucous membranes, and the membranes of the eyes turn yellowish. It is a symptom of an underlying condition, usually related to liver disorders.
Symptoms and Causes
Jaundice is the yellow discoloration of the skin, mucous membranes, and typically the ocular membranes (sclera). Although in most cases it is due to an increased level of bilirubin in the blood, it may also be caused by other factors.
In adults, jaundice is a clear indicator of disease; therefore, medical evaluation is required to assess the specific underlying condition. Infant jaundice, however, occurs in newborns and infants and is often a benign condition that resolves without complications.
The prognosis of jaundice varies depending on the underlying cause, the speed of diagnosis, and the patient’s age. In some cases, the yellow discoloration affects only the skin and mucous membranes without involving the eyes. This is due to non–bilirubin metabolism-related mechanisms, and in such cases the prognosis is generally better.
Symptoms
The characteristic symptoms of jaundice include:
- Yellow discoloration of the skin, mucous membranes, and ocular membranes.
- Choluria: dark urine.
- Acholia: pale-colored stools.
- Pruritus (itching).
- In cases associated with more severe diseases, such as hepatitis or liver cancer, the following may also occur:
- Vomiting.
- Fatigue.
- Weight loss.
Causes
In most patients, jaundice is caused by an increase in bilirubin (a waste product of hemoglobin) in the blood. This may be due to:
- Increased rate of red blood cell destruction.
- Hepatitis A, Hepatitis B, Hepatitis C, Hepatitis D, or Hepatitis E.
- Cirrhosis.
- Non-alcoholic fatty liver disease.
- Liver cancer.
- Gallstones.
- Biliary tumors.
- Pancreatic cancer.
- Congenital disorders:
- Gilbert syndrome: a benign liver condition in which the liver does not properly process bilirubin.
- Dubin–Johnson syndrome: a rare hereditary genetic disorder causing chronic non-hemolytic hyperbilirubinemia, meaning bilirubin levels are elevated without red blood cell destruction.
- Rotor syndrome: a benign hereditary disorder causing increased bilirubin levels similar to the previous syndrome.
- Crigler–Najjar syndrome: a genetic familial disorder that prevents bilirubin breakdown.
- Paracetamol (acetaminophen) overdose.
In newborns, jaundice (physiological jaundice) occurs due to liver immaturity, which is unable to eliminate bilirubin at the required rate.
Risk factors
The main risk factors for jaundice are:
- Prematurity: birth before 38 weeks of gestation.
- Infants with blood group incompatibility with their mothers.
- Newborns with difficulty breastfeeding or obtaining adequate nutrients.
- Infants with dehydration or low caloric intake. This is more common in exclusively breastfed infants.
- Liver dysfunction.
- Biliary tract obstruction.
- Sepsis: an extreme immune response to infection causing organ dysfunction.
- Digestive enzyme deficiency: the pancreas does not produce sufficient proteins to digest fats and nutrients.
Complications
The most significant complications of jaundice in adults include:
- Ascites: fluid accumulation in the abdomen.
- Portal hypertension: increased pressure in the vein that carries blood to the liver (portal vein), which may lead to bleeding in the stomach or esophagus.
- Hepatic encephalopathy: mental deterioration caused by the accumulation of toxic substances in the blood that reach the brain, typically characterized by drowsiness and confusion.
- Coagulopathy: increased tendency to bleed.
- In children, jaundice usually resolves without complications, but when present, the most relevant include:
- Acute bilirubin encephalopathy: toxins in the infant brain can cause severe and permanent damage. It is characterized by apathy, hypotonia (decreased muscle tone in early stages), difficulty walking, poor feeding, intense crying, or backward arching of the body due to hypertonia (increased muscle tone in intermediate stages).
- Kernicterus: a consequence of the previous condition, causing involuntary movements, hearing loss, or persistent upward gaze.
Which specialist treats jaundice?
Jaundice is managed by specialists in Gastroenterology, Hepatology, or Pediatrics.
Diagnosis
Jaundice is diagnosed through physical examination. The specialist assesses the condition and, above all, the color of the skin, mucous membranes, and ocular membranes.
To confirm elevated bilirubin levels, a Blood test is performed, including total and fractionated bilirubin levels. A liver function panel and complete blood count are also requested (to assess red blood cell destruction).
Treatment
Jaundice in adults is a symptom of an underlying disease and does not cause harm by itself. Therefore, treatment is directed at the underlying condition:
- Hepatitis A, B, C, D, or E: managed with rest, hydration, dietary and lifestyle modifications, and in some cases antiviral therapy.
- Cirrhosis: managed through lifestyle changes, alcohol abstinence, and in advanced cases, Liver transplant.
- Non-alcoholic fatty liver disease: weight loss, healthy diet, exercise, avoidance of alcohol, and strict glycemic control in diabetic patients.
- Liver or pancreatic cancer: tumor resection (sometimes including surrounding healthy tissue), with eradication of residual cancer cells using targeted therapy, Radiotherapy or Chemotherapy.
- Gallstones: Cholecystectomy is performed if stones do not dissolve with medication.
- Congenital disorders causing elevated bilirubin generally do not require specific treatment, as they are benign and non-damaging. Periodic monitoring and a healthy lifestyle are recommended.
In infant jaundice, the condition is definitively resolved with the following approaches:
- Temporary interruption of breastfeeding.
- Phototherapy: exposure of the newborn to blue light, which converts unconjugated bilirubin (insoluble form) into conjugated bilirubin (soluble form), allowing it to be excreted easily.
