Package "Diagnosis of benign hyperbilirubinemia - Complete"
Benign (or functional) hyperbilirubinemia is a condition in which bilirubin metabolism is impaired, accompanied by episodes of jaundice and a number of nonspecific symptoms in the absence of organic changes in the liver. These conditions are considered separate nosologies, usually of hereditary origin, often transmitted in an autosomal dominant pattern.
Bilirubin is a product of the breakdown of heme-containing proteins (primarily hemoglobin), which is metabolized in the liver and excreted in bile.
It exists in two forms:
- Free (unconjugated) - lipophilic, toxic;
- Bound (conjugated) - water-soluble, detoxified by the liver.
In benign hyperbilirubinemia, the processes of bilirubin binding and/or excretion are disrupted, leading to its accumulation in the blood and manifested by yellowing of the skin, sclera, and mucous membranes.
Benign hyperbilirubinemia accounts for up to 15% of all detected cases of hyperbilirubinemia. The complexity of diagnosis and the blurred clinical picture often lead to years of observation without a verified diagnosis or to incorrect treatment.
There are several variants of the disease, each with its own characteristics:
Gilbert's syndrome
- The most common form (up to 10% of the population).
- More common in men.
- Debuts in adolescence.
- An asymptomatic variant or episodes of jaundice against a background of stress, infections, starvation, physical exertion are possible.
Krigler-Najjar syndrome
- Genetic enzyme deficiency with impaired bilirubin conjugation.
- Type I - severe form, high risk of bilirubin encephalopathy.
- Type II - milder, benign form.
- Dubin– Johnson syndrome
- Autosomal recessive disease.
- Transport of bilirubin to bile is impaired.
- Jaundice appears by the age of 20–25, but may also occur in childhood.
Burk syndrome
- Subtype of Dabin-Johnson syndrome.
- Characterized by less severe jaundice.
Rotor syndrome
- Idiopathic nonhemolytic hyperbilirubinemia.
- The mechanism is similar to Crigler-Najjar syndrome, but with different mutations.
Meilenrhythmus-Syndrom
- Hyperbilirubinemia against a background of increased red blood cell breakdown.
- Symptoms are similar to those of Gilbert's syndrome.
- Predominantly in males.
Main symptoms:
- Yellowing of the sclera, skin, mucous membranes (permanent or transient),
- Obvious or subclinical color change that is noticeable when provoked (exercise, stress, alcohol).
Additional symptoms:
- Asthenic manifestations: weakness, apathy, rapid fatigue,
- Gastrointestinal disorders: spastic pain, nausea, decreased appetite, flatulence,
- Bitterness or metallic taste in the mouth,
- Mood swings, irritability, emotional lability,
- Stool disorders.