Which are the symptoms of Rotor syndrome?

Rotor syndrome is a rare genetic disorder that affects the liver's ability to process bilirubin, a yellow pigment produced during the breakdown of red blood cells. This condition is characterized by elevated levels of bilirubin in the blood, leading to jaundice and other associated symptoms. Rotor syndrome is typically inherited in an autosomal recessive manner, meaning that both parents must carry the gene mutation for their child to be affected.

Jaundice is the most common symptom of Rotor syndrome. It is characterized by a yellowing of the skin, eyes, and mucous membranes due to the buildup of bilirubin. The severity of jaundice can vary among individuals, ranging from mild to more pronounced discoloration.

Dark urine is another common symptom of Rotor syndrome. The excess bilirubin in the bloodstream can be excreted through the kidneys, leading to the presence of dark-colored urine. This change in urine color is often one of the first noticeable signs of the condition.

Pale stools may also occur in individuals with Rotor syndrome. Bilirubin normally gives stool its characteristic brown color, but when its metabolism is impaired, the stools can become pale or clay-colored. This occurs because the bilirubin is not properly processed and excreted into the intestines.

Abdominal pain or discomfort may be experienced by some individuals with Rotor syndrome. This can range from mild to severe and may be intermittent or persistent. The exact cause of abdominal pain in Rotor syndrome is not fully understood, but it may be related to the dysfunction of the liver and bile ducts.

Fatigue and weakness are common symptoms reported by individuals with Rotor syndrome. These symptoms may be attributed to the underlying liver dysfunction and the associated buildup of bilirubin in the bloodstream. Fatigue can significantly impact daily activities and quality of life.

Itching or pruritus is another symptom that may occur in Rotor syndrome. Elevated levels of bilirubin can cause irritation of the skin, leading to itching. Scratching the affected areas may result in skin damage or secondary infections.

Enlargement of the liver or hepatomegaly can be observed in some individuals with Rotor syndrome. The liver may become larger than normal due to the accumulation of bilirubin and other substances. However, hepatomegaly is not always present and may not be a prominent feature of the condition.

Other less common symptoms that have been reported in individuals with Rotor syndrome include nausea, vomiting, loss of appetite, and weight loss. These symptoms may be associated with the underlying liver dysfunction and the impact it has on digestion and nutrient absorption.

It is important to note that the severity and combination of symptoms can vary among individuals with Rotor syndrome. Some individuals may experience mild symptoms that do not significantly impact their daily lives, while others may have more pronounced symptoms that require medical management and support.

If you suspect you or a loved one may have Rotor syndrome, it is crucial to consult with a healthcare professional for a proper diagnosis and appropriate management. Genetic testing and liver function tests are commonly used to confirm the presence of Rotor syndrome and assess the extent of liver dysfunction.