Rotor syndrome is a disorder of bilirubin metabolism that is assigned to hereditary diseases. The main symptoms are jaundice and an increased blood level of direct bilirubin. The disease is usually not treated, since the patients usually do not show any symptoms apart from jaundice.
What is Rotor Syndrome?
A breakdown product of hemoglobin, which is released when old erythrocytes in the spleen and liver are decomposed, is known as bilirubin. Heme is converted to bilirubin by heme oxygenase and biliverdin reductase, which becomes bound to albumin in the bilirubin. These processes are also summarized under the term bilirubin metabolism. For charge syndrome definition, please visit electronicsmatter.com.
The ICD-10 recognizes different disorders of the porphyrin and bilirubin metabolism. One of them is Rotor Syndrome, also known as Rotor-Manahan-Florentin Syndrome. It is a rare, benign, and autosomal recessive disorder that affects bilirubin metabolism. The cardinal symptoms of the disease are an unusually high level of bilirubin and jaundice.
So far, the syndrome has been little researched due to its rarity and largely irrelevance in Western society. Nevertheless, more and more Western scientists are expressing interest in the disorder, as they hope that the study will provide insight into the liver’s transport processes.
The Filipino doctors Florentin, Manahan and Rotor first described the disorder and initially equated it with Dubin-Johnson syndrome. In the 1970s, Wolkoff and colleagues proved that Rotor syndrome and Dubin-Johnson syndrome are different diseases.
The hyperbilirubinemia and the resulting jaundice of Rotor syndrome are caused by an intracellular storage disorder of 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 accumulation has been observed in the cases documented so far.
A predominantly genetic cause is therefore obvious. However, the fact that Rotor syndrome affects almost exclusively the Philippines may also be related to exogenous factors that could possibly promote the onset of the syndrome. The genetic cause is primarily speculated about a defect that complicates the transport of conjugated bilirubin and could complicate the removal of the substance from the liver cell into the area of the bile canaliculi.
Accordingly, the syndrome is probably based on a hereditary MRP-2 channel defect due to mutations. The original mutation has not yet been identified and could therefore affect all genes involved in encoding channel components. It is also unclear which exogenous factors could promote the onset of the disease. The coming decade will probably provide more clarity, as Western science is currently showing great interest in researching the disease.
Symptoms, Ailments & Signs
Rotor syndrome is primarily characterized by jaundice. The patients suffer from jaundice, which can manifest itself on the skin, in the eyes or even in the internal organs. There is also hyperbilirubinemia. Such is the case if the bilirubin concentration exceeds 1.1 mg/dl.
These symptoms can be associated with other complaints, which, however, are rather unspecific and do not necessarily have to be present. Some patients also complain about non-specific complaints and pain in the right upper abdominal area. The pain symptoms in the upper abdomen are comparatively rare, so that they cannot be used as a diagnostic criterion.
Nonetheless, the pain in the upper right abdomen can further corroborate a diagnosis of Rotor syndrome based on the remaining symptoms. The same applies to possible accompanying symptoms such as fever attacks. Typically, hyperbilirubinemia and jaundice appear as isolated phenomena. Enzyme hypofunctions or a lack of enzymes involved in degradation are not among the symptoms of Rotor syndrome.
Diagnosis & course of disease
Hyperbilirubinemia is considered the main diagnostic symptom of Rotor syndrome. The high concentration of the breakdown product can be detected in the blood by means of a laboratory test. It is increased direct bilirubin between three and ten mg/dl. There are no signs of hemolysis in the patient. The same applies to hepatopathy with cell necrosis.
The transaminase values are therefore always in the normal range, with alkaline phosphatase also showing normal activity. In the differential diagnosis, the doctor must differentiate between jaundice in the patient and jaundice in neonatal and infant age and, consequently, hemolytic anemia, hepatitis and any bilirubin conjugation disorders.
In addition to the differential diagnostic differentiation from Crigler-Najjar syndrome or Gilbert-Meulengracht disease, malformations in the bile ducts as a cause of jaundice must be ruled out for the diagnosis of Rotor syndrome.
In most cases, Rotor syndrome does not require special treatment because it does not present with any serious or harmful symptoms. The life expectancy of the patient is usually not limited or reduced. Those affected suffer from this disease primarily from severe jaundice. This can lead to bullying or teasing, especially in children or young people, so that these age groups often suffer from depression or other mental health problems.
However, adults can also suffer from inferiority complexes or low self-esteem. Pain can occur in the upper abdomen, although this is usually not associated with eating. Bouts of fever can also occur with this syndrome and have a negative effect on the quality of life of those affected.
Further complications or complaints usually do not occur. The complaints do not represent any impairment in the life of those affected and are therefore not treated. Only flare-ups of fever can be treated with medication. Unfortunately, preventing Rotor syndrome is also not possible.
When should you go to the doctor?
As a rule, a doctor should always be consulted with Rotor syndrome. This disease does not heal on its own and in most cases the symptoms worsen if the disease is not treated properly. Medical treatment is therefore essential. A doctor should be consulted if the person concerned suffers from very severe pain in the area of the upper abdomen. The pain can also spread to neighboring regions of the body and have a very negative effect on the patient’s quality of life.
In most cases, those affected also suffer from a high fever and the usual symptoms of the flu or a cold. Quality of life is significantly reduced by Rotor syndrome. Jaundice can also be a sign of the disease. If these symptoms occur over a longer period of time and do not go away on their own, a doctor must be consulted in any case. As a rule, Rotor syndrome can be recognized and treated relatively easily by a general practitioner.
Treatment & Therapy
The exact causes of the Rotor Syndrome have not yet been conclusively secured and are therefore still in the sphere of speculation. For this reason alone, no causal treatment of the disease can take place. Usually, symptomatic treatment is not necessary.
If severe upper abdominal pain is an accompanying symptom, symptomatic relief can be provided with painkillers. Antipyretic medications can be used if there is an accompanying flare-up of fever. In most cases, however, Rotor syndrome hardly affects the patient, so that no treatment steps are required.
Since the causes of Rotor syndrome have not been finally clarified, the phenomenon cannot yet be prevented. Because of the apparently hereditary basis of the disease, those affected can theoretically decide not to have children as a prophylactic measure. However, since Rotor syndrome does not severely affect the lives of those affected, such an approach seems rather too radical.
Patients with Rotor syndrome usually do not require extensive follow-up care. Since the disease is rare, there are no specific follow-up methods. Follow-up care is based on the extent to which the symptoms occur. The symptoms of the disease are usually harmless and subside without consequences.
After recovery, a doctor should assess the patient’s health status. The typical symptoms such as fever, abdominal pain and yellowing of the skin must be examined by a doctor so that subsequent symptoms can be ruled out. After a strong fever, the doctor can explain further recovery measures. If the abdominal pain persists, an X-ray examination can clarify 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 disease. Follow-up care is provided by your family doctor or internist. In the case of chronic liver problems, regular visits to the doctor are indicated.
Depending on the underlying disease, aftercare takes place in the doctor’s practice or in a specialist clinic. If Rotor syndrome recurs, the doctor must be informed. If necessary, a causal treatment is also necessary. The specialist doctor can name the appropriate measures and prescribe a suitable painkiller for the patient after the jaundice has healed.
You can do that yourself
Patients suffering from Rotor Syndrome must comply with the 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 dysfunction of the liver, the diet has to be changed. The diet plan must be strictly adhered to so that no symptoms arise.
Home remedies such as warming pads and light food can help with abdominal pain. Herbal teas with chamomile or balm also relieve the typical symptoms and contribute to a speedy recovery. If the symptoms persist, it is best to consult the responsible family doctor or gastroenterologist. If complications such as severe fever attacks or pain reactions occur, a doctor’s visit is also recommended. If there are signs of a liver attack, an ambulance must be called. The patient must then be laid still. The arriving rescue service must be informed of the condition so that the necessary medical measures can be initiated immediately.
After a stay in hospital, general measures such as rest and rest apply. Parents of affected children should have the necessary examinations carried out if they wish to have children again. This allows the risk of illness to be estimated and the doctor can suggest further measures if necessary.