Hyperbilirubinemia

Hyperbilirubinemia – General Information

Hyperbilirubinemia is a disease which is caused by the appearance of unconjugated bilirubin, a complication which is induced by hemolysis. Such complications appear during acute hemolytic crises, when the quantity of bilirubin which is produced is quite high and it can no longer be conjugated and handled effectively by the organism. This will then lead to ineffective erythropoiesis, one of the rarest disorders in the world. Hyperbilirubinemia is caused by a large number of complications, such as vitiated hepatic bilirubin uptake, neonatal jaundice, RH incompatibility of the parents or an increased bilirubin load. These complications are also the result of some severe problems: the vitiated hepatic bilirubin uptake is usually the result of shunts (which may appear naturally or as the result of a surgery), of congestive heart failure or of inappropriate administration of drugs, such as flavaspidic acid, rifampicin, probenecid or bunamiodyl. Neonatal jaundice affects the newborns and it can be the result of physiologic jaundice (which means that the young babies have higher levels of bilirubin than adults) or of non-physiologic jaundice, which may take several forms: hemolysis, breast milk jaundice (the babies which are breast fed are more likely to suffer from this disorder than those who are formula-fed), galactosemia, hypoglycemia, sepsis, fructosemia, hypoxia, hypothyroidism, stenosis or hypoalbuminemia. Hyperbilirubinemia is an inherited disease and it can affect anybody, no matter the age, the race, the habitat or the medical history. If it is not diagnosed in due time and treated effectively, this disease can result in more severe complications, such as kernicterus, which is a life-threatening disorder.

Hyperbilirubinemia – Symptoms

Hyperbilirubinemia is quite hard to diagnose, as it does not present any clear signs and symptoms; however, even if it does not cause any complications in the exterior, it develops in the interior and it usually progresses slowly but effectively. In most of the cases, the high levels of bilirubin are characterized by the appearance and the development of asymptotic jaundice. On the other hand, in what concerns the neonatal jaundice which affects young babies, this is much easier to be diagnosed and, in about half of the cases, it is clinically obvious in the first 6 days of life. In some cases, the dysfunctional conjugation of bilirubin which characterizes this disease is noticeable because of the appearance of one of the following syndromes:  the Gilbert syndrome or the Crigler-Najjar syndrome.

The Gilbert syndrome is characterized by the fact that the production of bilirubin is higher when the sufferer experiences severe emotional stress, recurrent diseases, excessive tiredness or menstruation in the case of women. The Cringler-Najjar syndrome is more likely to appear during a surgery; the bad part is the fact that it can cause severe complications and an extremely high level of bilirubin. Other symptoms which have been reported in the case of those who suffer from Hyperbilirubinemia are anemia and hemorrhage. However, the most severe complication which can appear is an increased destruction of the red blood cells. Another important thing which should be known about this disease is the fact that it can lead to some serious problems of the liver.

Hyperbilirubinemia – Treatment

If you notice any abnormalities in your general health condition or you experience any of the signs and symptoms described above, you should consult a doctor as soon as possible in order to obtain a sure diagnosis and to benefit from the best form of treatment. In order to obtain sure and reliable information about your condition, the doctor will probably choose to perform one or more treatments to determine the levels of bilirubin in the organism, the existence of one of the syndromes associated with Hyperbilirubinemia and the damage of the liver. The existence of Cringler- Najjar syndrome is characterized by the absence of bilirubin in the serum and the urine. On the other hand, in order to determine the presence of Gilbert syndrome, your doctor has to perform the following tests: a nicotinic acid administration and an energy deprivation test. The bad part is the fact that these tests can have contradictory results and this is the reason why they have to be administrated not only once. This syndrome is also associated, in some rare cases, with schizophrenia. 

After the doctor obtains all the information he needs and he settles a sure diagnosis, he will choose the best way to treat the patient, considering the stage of the disease and the syndromes associated with Hyperbilirubinemia. In the case of the sufferers who present the Cringler-Najjar syndrome, the doctor has to choose a treatment in order to reduce the concentration of bilirubin in the serum. The most common treatment consist in phototherapy, although it is not enough effective. In this case, the definitive treatment consists in liver transplantation. If Hyperbilirubinemia is associated with the Arias syndrome, the sufferer will experience more severe complications. In this case, the treatment consists in the administration of Phenobarbital or clorfibrate agents. More recent ways of treating the disease in this case consist in the administration of lipase inhibitors, zinc salts or injections with adenovirus agents.

No matter what type of treatment the doctor chooses to administer to his patient, there are some complications which may appear. The most common ones are hemolysis (characterized by the appearance of pigment gallstones), erythropoiesis and kernicterus. Even though Hyperbilirubinemia is a severe disorder which may even lead to some life-threatening complications, the treatment proves quite effective in most of the cases. In the case of erythropoiesis associated with this disease, the treatment usually lead to excellent results. In the case of neonatal jaundice which affects young babies, the treatment eliminates the problem almost completely in just 4 or 5 weeks. However, the treatment does not prove that effective when this disorder is also associated with one of the syndromes presented above. For example, if the patient also presents the Cringler-Najjar syndrome he will survive for about 2 years, unless he is treated vigorously; this means that he has to go through a segmental transplantation or a liver transplantation. If Hyperbilirubinemia is associated with the Arias syndrome, the patient can experience serious brain damage and, in most of the cases, such complications can not be treated.