How do I know if I have Rotor syndrome?

How to Determine if You Have 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 symptoms. If you suspect you may have Rotor syndrome, it is important to consult with a healthcare professional for a proper diagnosis. However, there are several signs and symptoms that may indicate the presence of this condition.

1. Jaundice:

One of the most noticeable symptoms of Rotor syndrome is jaundice, which causes a yellowing of the skin and eyes. This occurs due to the buildup of bilirubin in the body.

2. Dark Urine:

Another common sign is dark-colored urine. Excess bilirubin can be excreted through urine, giving it a dark or tea-colored appearance.

3. Fatigue:

People with Rotor syndrome may experience fatigue and general weakness. This can be attributed to the liver's impaired ability to process bilirubin and other substances.

4. Abdominal Pain:

Some individuals may experience abdominal discomfort or pain, although this symptom can vary in severity.

5. Itching:

Itching, medically known as pruritus, is another possible symptom of Rotor syndrome. It is caused by the accumulation of bilirubin in the skin.

6. Elevated Bilirubin Levels:

A definitive diagnosis of Rotor syndrome requires a blood test to measure bilirubin levels. Elevated direct bilirubin levels, along with normal liver function tests, can indicate the presence of this condition.

If you are experiencing any of these symptoms, it is crucial to consult a healthcare professional for a proper evaluation. They will consider your medical history, perform a physical examination, and order relevant tests to confirm or rule out Rotor syndrome. Remember, only a qualified healthcare provider can provide an accurate diagnosis and appropriate treatment plan.