Gilbert’s syndrome is a genetic condition that occurs due to a mutation in the UGT1A1 gene, which affects the processing of bilirubin in the liver. This leads to increased levels of unconjugated bilirubin in the bloodstream. The syndrome is generally not associated with significant health problems, but it’s still important to be aware of it.

Symptoms: when should you see a doctor?

Most individuals with Gilbert’s syndrome do not experience noticeable symptoms. However, some may occasionally develop mild symptoms such as jaundice (yellowing of the skin and eyes) or fatigue. 

Here are some specific scenarios in which you should consider seeing a doctor:

1. Symptoms: If you notice any symptoms such as yellowing of the skin or eyes (jaundice), unusual tiredness that cannot be explained, or discomfort in the abdominal area, it is important to seek medical help. Although these symptoms may be linked to different conditions, including Gilbert’s syndrome, it is necessary to consult a doctor to identify the root cause.
2. Routine Check-ups: If anyone in your family has a history of Gilbert’s syndrome or other liver conditions, or if you are anxious about the health of your liver, it is advisable to discuss these concerns with your doctor during routine check-ups. They can evaluate your risk factors and suggest appropriate screening tests or monitoring.
3. Changes in Health: Don’t hesitate to consult a doctor if you notice any significant changes in your health or have concerns about how Gilbert’s syndrome may interact with your medical treatments or lifestyle.

Causes and Diagnosis

The primary cause of Gilbert’s syndrome is a genetic mutation that affects bilirubin metabolism. This mutation is usually inherited, but not everyone with the gene mutation will develop Gilbert’s syndrome. 

Gilbert’s syndrome is often diagnosed incidentally during routine blood tests that reveal elevated levels of unconjugated bilirubin. Other liver function tests may be conducted to rule out additional liver conditions or complications.

Treatment

Treatment for Gilbert’s syndrome typically involves managing symptoms and avoiding triggers that may exacerbate bilirubin buildup. While specific treatments for the syndrome itself are not usually necessary, monitoring liver function and overall health is important for individuals undergoing gender-affirming care.

Cyproterone and Gilbert’s Syndrome

Cyproterone, a medication commonly used in gender-affirming care for its anti-androgenic properties, is not contraindicated in individuals with Gilbert’s syndrome. Since Gilbert’s syndrome primarily affects bilirubin metabolism rather than the enzymes involved in metabolizing cyproterone, the medication can generally be prescribed safely. However, it is essential to monitor liver function tests, specifically alanine transaminase (ALT) and aspartate transaminase (AST) levels.