Rotors syndrome, also referred to as Rotor type hyperbilirubinemia is an uncommon type of combined direct and indirect hyperbilirubinemia and an autosomal recessive condition.
Non-hemolytic jaundice, which is caused by a persistent increase of mostly conjugated bilirubin, is the disease’s classic symptom. Jaundice is a primary symptom, although Rotor Syndrome is a benign, self-limiting condition that does not need to be treated.
Patients are typically asymptomatic, and jaundice is frequently discovered incidentally. It shares many of the same symptoms as Dubin-Johnson syndrome, although the liver is histologically normal.
Epidemiology
The condition’s actual prevalence is unknown. Since the majority of patients don’t exhibit any symptoms, the condition may be discovered as a result of unintended consequences during tests that are being done for other objectives.
After Crigler-Najjar type 1, it is the second-rarest genetic cause of hyperbilirubinemia. Furthermore, Rotor syndrome does not exhibit a gender bias. Although the illness typically manifests in adolescence or early adulthood, it has also been observed to manifest after birth or in childhood.
Anatomy
Pathophysiology
Mutations in proteins essential for moving bilirubin and other substances from the blood to the liver to be processed and removed from the body cause Rotor syndrome. Coproporphyrin 1, the main coproporphyrin isomer in bile, is carried back into circulation by the hepatocyte and eliminated in the urine.
As a result, urine coproporphyrin levels are high in Rotor syndrome. Cholescintigraphy with sulfobromophthalein revealed that the transport capability of dye into bile is diminished by less than 50%, and the storing capacity in hepatocytes declined more than fivefold in this disease compared to normal values.
Defective bilirubin excretion and storage result in impaired conjugated bilirubin secretion, which causes reabsorption of bilirubin into the bloodstream and subsequent elimination of bilirubin in the urine. Jaundice is the resultant hyperbilirubinemia’s outward sign.
Etiology
Rotor syndrome’s specific cause is unknown; however, it appears to be related to the liver’s inability to store organic anions such as bilirubin diglucuronide intracellularly. Homozygous mutations bring on an autosomal recessive condition known as Rotor syndrome in both SLCO1B3 and SLCO1B1 on chromosome 12. These genes regulate the organic anion transporting polypeptides 1B3 and 1B1.
These proteins are located in liver cells and intervene in the sodium-independent cellular uptake of various drugs, toxins, and their conjugates, as well as bile acids, thyroid hormones, bilirubin glucuronide, and other substances. Hepatocytes conjugate most bilirubin in a healthy liver and release it back into the blood.
The OATP1B3 and OATP1B1 proteins reabsorb it in hepatocytes further down the pathway. Because the OATP1B3 and OATP1B1 proteins in Rotor syndrome are unusually short, bilirubin is not eliminated from the body and taken up by the liver as effectively as possible. This leads to a buildup of bilirubin in the blood and urine, which causes dark urine and jaundice.
Genetics
Prognostic Factors
Rotor syndrome is a benign syndrome that might persist throughout life. There are no recognized treatment options for Rotor syndrome patients. Rotor syndrome has no morbidity or mortality; hence the prognosis is favorable. If another liver condition is present, mortality and morbidity occur.
Clinical History
Physical Examination
Age group
Associated comorbidity
Associated activity
Acuity of presentation
Differential Diagnoses
Laboratory Studies
Imaging Studies
Procedures
Histologic Findings
Staging
Treatment Paradigm
by Stage
by Modality
Chemotherapy
Radiation Therapy
Surgical Interventions
Hormone Therapy
Immunotherapy
Hyperthermia
Photodynamic Therapy
Stem Cell Transplant
Targeted Therapy
Palliative Care
Medication
Future Trends
Media Gallary
References
https://www.ncbi.nlm.nih.gov/books/NBK532306/
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Rotors syndrome, also referred to as Rotor type hyperbilirubinemia is an uncommon type of combined direct and indirect hyperbilirubinemia and an autosomal recessive condition.
Non-hemolytic jaundice, which is caused by a persistent increase of mostly conjugated bilirubin, is the disease’s classic symptom. Jaundice is a primary symptom, although Rotor Syndrome is a benign, self-limiting condition that does not need to be treated.
Patients are typically asymptomatic, and jaundice is frequently discovered incidentally. It shares many of the same symptoms as Dubin-Johnson syndrome, although the liver is histologically normal.
The condition’s actual prevalence is unknown. Since the majority of patients don’t exhibit any symptoms, the condition may be discovered as a result of unintended consequences during tests that are being done for other objectives.
After Crigler-Najjar type 1, it is the second-rarest genetic cause of hyperbilirubinemia. Furthermore, Rotor syndrome does not exhibit a gender bias. Although the illness typically manifests in adolescence or early adulthood, it has also been observed to manifest after birth or in childhood.
Mutations in proteins essential for moving bilirubin and other substances from the blood to the liver to be processed and removed from the body cause Rotor syndrome. Coproporphyrin 1, the main coproporphyrin isomer in bile, is carried back into circulation by the hepatocyte and eliminated in the urine.
As a result, urine coproporphyrin levels are high in Rotor syndrome. Cholescintigraphy with sulfobromophthalein revealed that the transport capability of dye into bile is diminished by less than 50%, and the storing capacity in hepatocytes declined more than fivefold in this disease compared to normal values.
Defective bilirubin excretion and storage result in impaired conjugated bilirubin secretion, which causes reabsorption of bilirubin into the bloodstream and subsequent elimination of bilirubin in the urine. Jaundice is the resultant hyperbilirubinemia’s outward sign.
Rotor syndrome’s specific cause is unknown; however, it appears to be related to the liver’s inability to store organic anions such as bilirubin diglucuronide intracellularly. Homozygous mutations bring on an autosomal recessive condition known as Rotor syndrome in both SLCO1B3 and SLCO1B1 on chromosome 12. These genes regulate the organic anion transporting polypeptides 1B3 and 1B1.
These proteins are located in liver cells and intervene in the sodium-independent cellular uptake of various drugs, toxins, and their conjugates, as well as bile acids, thyroid hormones, bilirubin glucuronide, and other substances. Hepatocytes conjugate most bilirubin in a healthy liver and release it back into the blood.
The OATP1B3 and OATP1B1 proteins reabsorb it in hepatocytes further down the pathway. Because the OATP1B3 and OATP1B1 proteins in Rotor syndrome are unusually short, bilirubin is not eliminated from the body and taken up by the liver as effectively as possible. This leads to a buildup of bilirubin in the blood and urine, which causes dark urine and jaundice.
Rotor syndrome is a benign syndrome that might persist throughout life. There are no recognized treatment options for Rotor syndrome patients. Rotor syndrome has no morbidity or mortality; hence the prognosis is favorable. If another liver condition is present, mortality and morbidity occur.
https://www.ncbi.nlm.nih.gov/books/NBK532306/
medtigo
Rotor Syndrome
Updated :
November 23, 2022
Rotors syndrome, also referred to as Rotor type hyperbilirubinemia is an uncommon type of combined direct and indirect hyperbilirubinemia and an autosomal recessive condition.
Non-hemolytic jaundice, which is caused by a persistent increase of mostly conjugated bilirubin, is the disease’s classic symptom. Jaundice is a primary symptom, although Rotor Syndrome is a benign, self-limiting condition that does not need to be treated.
Patients are typically asymptomatic, and jaundice is frequently discovered incidentally. It shares many of the same symptoms as Dubin-Johnson syndrome, although the liver is histologically normal.
The condition’s actual prevalence is unknown. Since the majority of patients don’t exhibit any symptoms, the condition may be discovered as a result of unintended consequences during tests that are being done for other objectives.
After Crigler-Najjar type 1, it is the second-rarest genetic cause of hyperbilirubinemia. Furthermore, Rotor syndrome does not exhibit a gender bias. Although the illness typically manifests in adolescence or early adulthood, it has also been observed to manifest after birth or in childhood.
Mutations in proteins essential for moving bilirubin and other substances from the blood to the liver to be processed and removed from the body cause Rotor syndrome. Coproporphyrin 1, the main coproporphyrin isomer in bile, is carried back into circulation by the hepatocyte and eliminated in the urine.
As a result, urine coproporphyrin levels are high in Rotor syndrome. Cholescintigraphy with sulfobromophthalein revealed that the transport capability of dye into bile is diminished by less than 50%, and the storing capacity in hepatocytes declined more than fivefold in this disease compared to normal values.
Defective bilirubin excretion and storage result in impaired conjugated bilirubin secretion, which causes reabsorption of bilirubin into the bloodstream and subsequent elimination of bilirubin in the urine. Jaundice is the resultant hyperbilirubinemia’s outward sign.
Rotor syndrome’s specific cause is unknown; however, it appears to be related to the liver’s inability to store organic anions such as bilirubin diglucuronide intracellularly. Homozygous mutations bring on an autosomal recessive condition known as Rotor syndrome in both SLCO1B3 and SLCO1B1 on chromosome 12. These genes regulate the organic anion transporting polypeptides 1B3 and 1B1.
These proteins are located in liver cells and intervene in the sodium-independent cellular uptake of various drugs, toxins, and their conjugates, as well as bile acids, thyroid hormones, bilirubin glucuronide, and other substances. Hepatocytes conjugate most bilirubin in a healthy liver and release it back into the blood.
The OATP1B3 and OATP1B1 proteins reabsorb it in hepatocytes further down the pathway. Because the OATP1B3 and OATP1B1 proteins in Rotor syndrome are unusually short, bilirubin is not eliminated from the body and taken up by the liver as effectively as possible. This leads to a buildup of bilirubin in the blood and urine, which causes dark urine and jaundice.
Rotor syndrome is a benign syndrome that might persist throughout life. There are no recognized treatment options for Rotor syndrome patients. Rotor syndrome has no morbidity or mortality; hence the prognosis is favorable. If another liver condition is present, mortality and morbidity occur.
https://www.ncbi.nlm.nih.gov/books/NBK532306/
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