Rotor syndrome is a disorder of bilirubin metabolism that is classified as a hereditary disease. The leading symptoms are jaundice and an elevated blood level of direct bilirubin. There is usually no treatment of the disease, as patients usually do not show any symptoms except for jaundice.
What is Rotor syndrome?
Bilirubin is known as a breakdown product of hemoglobin that is released when old erythrocytes break down in the spleen and liver. The heme is converted to bilirubin by heme oxygenase and biliverdin reductase, which is bound to albumin in the bilirubin. These processes are also summarized under the term bilirubin metabolism. The ICD-10 recognizes different disorders of porphyrin and bilirubin metabolism. One of them is the Rotor syndrome, also called Rotor-Manahan-Florentin syndrome. This is a rare, benign and autosomal recessive disorder affecting bilirubin metabolism. The leading symptoms of the disease are an abnormally high bilirubin level and jaundice. To date, the syndrome has been little studied due to its rarity and widespread irrelevance in Western society. Nonetheless, more and more Western scientists are registering interest in the disorder, hoping to gain insight into transport processes in the liver. Philippine physicians Florentin, Manahan and Rotor first described the disorder, initially equating it with Dubin-Johnson syndrome. Wolkoff and colleagues proved in the 1970s that Rotor and Dubin-Johnson syndromes were distinct disorders.
Causes
The hyperbilirubinemia and resulting jaundice of Rotor syndrome are caused by an intracellular storage disorder of both conjugated and unconjugated bilirubin. Both sexes can be affected by Rotor syndrome. The syndrome occurs predominantly in the Philippines and has a hereditary basis. Familial clustering has been observed in the cases documented to date. This suggests a predominantly genetic cause. However, the fact that Rotor syndrome affects almost exclusively the Philippines may also be related to exogenous factors that could possibly favor the onset of the syndrome. A genetic cause is speculated to be a defect that impedes the transport of conjugated bilirubin and could make it difficult to remove the substance from the liver cell to the area of the bile ducts. Accordingly, a hereditary MRP-2 channel defect due to mutations probably underlies the syndrome. The original mutation has not yet been identified and thus could affect all genes involved in the coding of channel components. Which exogenous factors might still promote the onset of the disease is equally unclear so far. Presumably, the coming decade will provide more clarity after Western science currently shows great interest in studying the disease.
Symptoms, complaints and signs
Rotor syndrome is characterized primarily by jaundice. Accordingly, patients suffer from jaundice, which may manifest on the skin, in the eyes, or even in the internal organs. In addition, hyperbilirubinemia is present. This is referred to as hyperbilirubinemia if the bilirubin concentration exceeds 1.1 mg/dl. These symptoms may be associated with other complaints, which, however, are rather unspecific and do not necessarily have to be present. In addition, some patients complain of non-specific complaints and pain in the right upper abdomen. Pain symptoms in the upper abdomen are comparatively rare, so that they should not be used as a diagnostic criterion. Nevertheless, pain in the right upper abdomen may corroborate a rotor syndrome diagnosis based on the other symptoms. The same is true for possible accompanying symptoms such as episodes of fever. Typically, hyperbilirubinemia and icterus occur as isolated manifestations. Enzymatic hypofunction or deficiency of abbaubilized enzymes are not among the symptoms of Rotor syndrome.
Diagnosis and course of the disease
Hyperbilirubinemia is considered the leading diagnostic symptom of Rotor syndrome. The high concentration of the breakdown product can be detected in the blood by laboratory testing. It is elevated direct bilirubin between three and ten mg/dl. There are no signs of hemolysis in the patients.The same applies to hepatopathy with cell necrosis. Thus, transaminase values are always within the normal range, with alkaline phosphatase also showing normal activity. Differentially, the physician must distinguish jaundice in patients from jaundice in neonates and infants and, consequently, differentiate it from hemolytic anemia, hepatitis, and any conjugation disorders of bilirubin. Beyond differential differentiation from Crigler-Najjar syndrome or Gilbert-Meulengracht disease, malformations of the bile ducts as a cause of jaundice must be excluded for the diagnosis of Rotor syndrome.
Complications
In most cases, Rotor syndrome does not require special treatment because it does not present with severe or harmful symptoms. In this case, the patient’s life expectancy is also usually not limited or reduced. In this disease, the affected person primarily suffers from severe jaundice. Children or adolescents in particular may be bullied or teased because of this complaint, so that these age groups often suffer from depression or other psychological complaints. However, adults can also suffer from inferiority complexes or lowered self-esteem. Pain may occur in the upper abdomen, although it is not usually associated with food intake. Fever episodes may also occur with this syndrome and have a negative impact on the quality of life of the affected person. There are usually no other complications or complaints. The symptoms do not interfere with the life of the affected person and for this reason are not treated. Only the fever episodes can be treated with the help of medication. Prevention of Rotor syndrome is unfortunately equally impossible.
When should you go to the doctor?
In the case of rotor syndrome, as a rule, a doctor should always be consulted. There is no self-healing in this disease, and in most cases, the symptoms will also worsen if the disease is not treated properly. Medical treatment is therefore indispensable. A doctor should be consulted if the affected person suffers from very severe pain in the area of the upper abdomen. In this case, the pain can also spread to neighboring regions of the body and have a very negative impact on the patient’s quality of life. In most cases, the affected person also suffers from severe fever and the usual symptoms of flu or a cold. The quality of life is significantly reduced by Rotor syndrome. Jaundice may also be a sign of the disease. If these complaints occur over a longer period of time and do not disappear on their own, a doctor must be consulted in any case. As a rule, rotor syndrome can be detected and treated relatively easily by a general practitioner.
Treatment and therapy
The exact causes of Rotor syndrome have not been conclusively established to date and are consequently still in the realm of the speculative. For this reason alone, there can be no causal treatment of the disease. As a rule, symptomatic treatment is not necessary either. If severe upper abdominal pain is present as an accompanying symptom, symptomatic relief can be provided with analgesic drugs. In the case of accompanying febrile episodes, antipyretic drugs can be used. In most cases, however, Rotor syndrome hardly affects patients, so that no therapeutic steps are required.
Prevention
Because the causes of Rotor syndrome have not been conclusively determined, the phenomenon cannot yet be prevented. Because of the apparent hereditary basis of the disease, affected individuals may theoretically decide prophylactically not to have children of their own. However, since rotor syndrome does not severely affect the lives of affected individuals, such an approach seems rather too radical.
Follow-up
Patients with Rotor syndrome usually do not require extensive follow-up care. Because the condition is rare, no specific follow-up methods exist. Follow-up is based on the extent to which symptoms occur. The symptoms of the disease are usually harmless and resolve without consequences. After recovery, a physician should clarify the patient’s state of health.The typical symptoms such as fever, abdominal pain and yellowing of the skin must be examined by a doctor so that secondary symptoms can be ruled out. After a strong fever, the physician can provide information about further recovery measures. If the abdominal pain persists, an X-ray examination can provide clarity about possible causes. In this way, for example, internal bleeding can be detected. If the symptoms of rotor syndrome occur, there may be an undiagnosed liver condition. Follow-up is performed by the family doctor or internist. Regular visits to the physician are indicated for chronic liver complaints. Follow-up takes place in the physician’s office or in the specialty clinic, depending on the underlying condition. If rotor syndrome recurs, the physician must be informed. Causal treatment may also be necessary. The specialist can indicate the appropriate measures and prescribe a suitable analgesic for the patient after the jaundice has healed.
What you can do yourself
Patients suffering from rotor syndrome must comply with regular visits to the doctor. The function of the liver must be checked at intervals of three to six months so that complications can be ruled out. Due to the liver dysfunction, the diet must be changed. The diet plan must be strictly adhered to so that no complaints occur. For abdominal pain, home remedies such as warming compresses and gentle diet help. Herbal teas with chamomile or lemon balm also alleviate the typical discomfort and contribute to a speedy recovery. If symptoms persist, it is best to consult the family doctor or gastroenterologist in charge. If complications such as severe fever attacks or pain reactions occur, a visit to the doctor is also recommended. If there are signs of a liver infarction, the emergency physician must be called. The patient must then be placed in a quiet position. The arriving ambulance service must be informed of the condition so that the necessary medical measures can be initiated immediately. After hospitalization, general measures such as rest and recuperation apply. Parents of affected children should have the necessary examinations performed if there is a renewed desire to have children. This will allow the risk of disease to be assessed and, if necessary, the physician can suggest further measures.
