Dubin-Johnson syndrome is an inherited disorder that primarily affects the liver. Symptoms include jaundice, an increased concentration of bilirubin in the blood, and abnormalities of the liver. Causative treatment is not possible, but in most cases it is not necessary.
What is Dubin-Johnson syndrome?
Dubin-Johnson syndrome belongs to the metabolic diseases, where it is classified in the group of disorders of bilirubin metabolism. Pathologist Isidore N. Dubin and military physician and pathologist Frank B. Johnson gave the syndrome its name. The two researchers were the first to describe this clinical picture in 1954. Dubin-Johnson syndrome primarily affects the liver, which is responsible for the development of each symptom. The mutation that causes Dubin-Johnson syndrome is located on one of the autosomes, i.e. not on the X or Y chromosome. Nevertheless, more women than men suffer from this hereditary disease. In humans, each chromosome exists twice. The disease is recessive: if a person has a 10th chromosome with the mutation and a 10th chromosome without, Dubin-Johnson syndrome does not break out. Only when two mutated chromosomes come together does the person develop the disease. This circumstance contributes to the fact that the disease is very rare. The carrier of a mutated chromosome can still inherit the syndrome if he or she passes the mutated chromosome to his or her child and the child simultaneously receives a disease-bearing chromosome from the other parent.
Causes
A change in the genetic material is responsible for Dubin-Johnson syndrome. The mutation causes increased bilirubin to be released into the bile. Bilirubin is a yellow pigment and is found in the blood. There it forms a component of hemoglobin, the red pigment of the blood. Bilirubin can appear in the human body as direct (conjugated) or indirect bilirubin. Direct bilirubin has a glucuronic acid molecule. Glucuronic acid increases the water solubility of biochemical substances. The organism purifies the blood in the liver and spleen. In this process, the organs filter out blood components that are damaged and therefore need to be renewed. The increased water solubility due to glucuronic acid helps the body to eliminate these sorted out substances. In Dubin-Johnson syndrome, this process is impaired. The body does not adequately dispose of the direct bilirubin, but instead passes it on into the blood – triggering the typical symptoms of the hereditary disease.
Symptoms, complaints, and signs
An externally easily recognizable syndrome is jaundice (icterus), which turns the skin and eyeball a yellowish color from infancy onward. A component of the blood called bilirubin is responsible for the color. Bilirubin is formed when the human body breaks down blood. Normally, the substance is present only in small amounts and therefore does not trigger yellowing. However, in people who suffer from Dubin-Johnson syndrome or develop jaundice for other reasons, too much bilirubin is present: The usual breakdown and disposal mechanisms fail. Together with jaundice, congestion of the bile (cholestasis) often occurs. However, jaundice in Dubin-Johnson syndrome is often characterized precisely by the absence of bile stasis. In atypical cases, bile stasis is nevertheless possible. The increase in the bilirubin concentration in the blood is also referred to in medicine as hyperbilirubinemia. It can be detected in laboratory tests. As a result of the disorder, the liver can easily enlarge and deposit dyes in its cells. These deposits manifest themselves as black spots in the liver. In addition, affected individuals may suffer from pain in the upper abdomen. They also excrete more bile pigments than usual during episodic jaundice.
Diagnosis and course
Physicians may make the diagnosis based on clinical symptoms: Jaundice, as well as bilirubinuria and urobilinogenuria, are readily detectable by external signs and examination of the urine in the laboratory. As a differential diagnosis, physicians must exclude, among other things, Rotor syndrome, which leads to a similar clinical picture. In addition, a genetic test can detect whether a person carries the corresponding mutated gene. Dubin-Johnson syndrome manifests itself in childhood. Even at a young age, affected individuals may suffer from jaundice (icterus).People with Dubin-Johnson syndrome do not suffer from jaundice continuously, but experience episodes of bilirubin increase. The syndrome does not usually lead to physical impairment and patients can lead normal lives: They are not limited in their daily lives, nor do they have a lower life expectancy than other individuals.
Complications
The leading clinical symptom of Dubin-Johnson syndrome is jaundice, which mainly affects the liver. Patients have an elevated concentration of bilirubin. This is a yellow pigment in the blood where it forms a component of hemoglobin. Direct bilirubin has a glucoronic acid molecule that increases the water solubility of biochemical substances accumulated in the organism. Through this process, in healthy people, blood purification takes place in the liver and spleen. In patients with Dubin-Johnson syndrome, this purification process is disturbed, resulting in the outwardly very recognizable leading symptom of jaundice. The yellowish coloration of the skin is due to the increased concentration of bilirubin in the blood. The natural degradation mechanisms fail, causing other symptoms such as pain in the upper abdomen and increased excretion of bile during episodic jaundice. The jaundice of Dubin-Johnson syndrome, unlike other jaundice disorders, is characterized by the absence of bile stasis. The liver may enlarge and store the dyes that lead to black spots on the affected organ. Despite these complications, patients do not experience any physical impairment and are able to lead a normal life. They also have no different life expectancy than healthy people. Because it is a gene mutation, Dubin-Johnson syndrome is not yet treatable. Therapy is not necessary because the symptoms are not problematic.
When should you see a doctor?
Dubin-Johnson syndrome does not require medical treatment in every case. However, the disease should still be properly diagnosed, as patients should avoid certain ingredients in their diet. A doctor should usually be consulted if patients suffer from jaundice. In this case, the skin and eyes turn a yellowish color. These symptoms can be seen directly with the eye. Furthermore, deposits also appear on the liver. In the first instance, a general practitioner or an internist can be consulted for Dubin-Johnson syndrome. A diagnosis can be made by ultrasound examination. Direct treatment of Dubin-Johnson syndrome is not necessary in every case. Those affected should refrain from using estrogens in their lives in order to minimize the symptoms of the syndrome. Women in particular should take this waiver into account when taking the contraceptive pill. A speaking contrast agent must also be used in x-rays during other medical visits. The patient’s life expectancy is usually not negatively affected by this condition.
Treatment and therapy
The cause of the syndrome is not treatable today because of a genetic mutation. However, since the symptoms are usually completely unproblematic, treatment is also not necessary. However, people affected by Dubin-Johnson syndrome should not take estrogens – for example, in the form of the contraceptive pill in women or as part of hormonal therapy. In addition, physicians may have to take Dubin-Johnson syndrome into account when selecting contrast media for X-rays. Some contrast agents may not be cleared by affected individuals in the same way as by individuals without the syndrome. This is especially true of contrast media containing iodine or bromosulfalein.
Outlook and prognosis
Dubin-Johnson syndrome cannot be treated causally, so there is always symptomatic treatment in this condition. This can usually limit the symptoms well. However, intensive treatment is only really necessary in a few cases, so that those affected do not suffer from any particular symptoms if Dubin-Johnson syndrome is not severe. If this syndrome does not require treatment, the affected persons suffer from jaundice. The severity of this jaundice depends strongly on the severity of the syndrome, so that no general prediction can be made here.Likewise, in Dubin-Johnson syndrome, the urea may turn a strong yellow color. In some cases, this may also cause pain in the abdomen in the area of the liver. Other complications do not usually occur. The syndrome is treated with the help of medication and limits the symptoms very well. No side effects occur and there is complete relief of symptoms. Since Dubin-Johnson syndrome can be inherited by further generations, those affected should undergo genetic counseling to prevent this inheritance. The patient’s life expectancy is not negatively affected by the syndrome.
Prevention
Dubin-Johnson syndrome is an inherited disease, and affected individuals cannot prevent its onset if they carry the appropriate genes. Because the syndrome is genetically recessive, children of affected individuals do not necessarily also develop the disease. Conversely, however, a parent does not have to suffer from Dubin-Johnson syndrome himself to pass it on to his child.
Follow-up
In most cases of Dubin-Johnson syndrome, aftercare measures are not available to the affected person. The affected person is primarily dependent on early detection and subsequent treatment of this syndrome to prevent further complications or other medical conditions. The focus is therefore on early diagnosis in order to avoid further complaints. A direct and causal treatment of the Dubin-Johnson syndrome is usually not possible. Patients with Dubin-Johnson syndrome are usually dependent on taking medication and hormones. The dosage must be constantly monitored and also adjusted. In case of doubt or other ambiguities, a doctor should always be consulted first. Regular examinations are also necessary to prevent further complications. These should also be discussed with a doctor. Patients are often also dependent on mental support. In this context, the help and care of one’s own family and that of friends and acquaintances has a particularly positive effect on the further course of Dubin-Johnson syndrome. However, in the case of severe psychological upsets, a specialist should always be consulted. As a rule, Dubin-Johnson syndrome does not reduce the life expectancy of the affected person.
What you can do yourself
People suffering from Dubin-Johnson syndrome definitely need medical treatment. Nevertheless, the therapy can be supported with some means and self-help measures. Various types of tea, such as dandelion, peppermint or oregano leaf tea, help against the typical yellow fever. A proven remedy is tomato juice with a little salt. Meat broth also relieves discomfort and provides the body with important nutrients after a bout of diarrhea. Other home remedies that can relieve discomfort of the disease are banana porridge with honey, freshly squeezed lime juice and beet juice. Women with the disease should not take estrogens – for example, as part of hormone therapy or through the birth control pill. The doctor in charge can answer exactly what measures should be taken. In general, however, those affected by Dubin-Johnson syndrome should rest in bed and take it easy. Yellow fever must be well cured to avoid further complications and late effects. After recovery, patients should make sure to visit their doctor regularly and have their physical health checked. Sport and dietary measures are also recommended. Both strengthen the weakened immune system and regulate the gastrointestinal tract and other endogenous processes. If symptoms suddenly reappear, medical advice is needed.
