An Overview of Gilbert Syndrome

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Gilbert syndrome is considered a mild genetic condition affecting the liver, in which the bilirubin levels become elevated in the blood. Bilirubin is a yellow-hued byproduct that forms due to a breakdown of old or worn out red blood cells, according to the National Organization of Rare Diseases (NORD).

Gilbert syndrome is the most well-known name for this condition, but it may be referred to by other names as well, states NORD, such as:

  • Gilbert’s disease
  • Gilbert-Lereboullet syndrome
  • Meulengracht's disease
  • Constitutional liver dysfunction
  • Familial nonhemolytic jaundice
  • Hyperbilirubinemia
  • Unconjugated benign bilirubinemia

Bilirubin becomes elevated in people with Gilbert syndrome because they have an insufficient amount of a certain liver enzyme that’s necessary to remove it from the body. Many people with Gilbert syndrome will remain asymptomatic, meaning they have no noticeable signs of the condition. But in some people, bilirubin levels increase to the point of causing symptoms. Though the symptoms are often manageable, they include jaundice, or a yellowing of the skin, eyes, and mucous membranes.

Augustine Gilbert and Pierre Lerebullet first mentioned Gilbert syndrome in medical literature in 1901. Current statistics demonstrate it impacts approximately 3 percent to 7 percent of the U.S. population, reports the Cleveland Clinic. Additionally, it is most often found in young adults, and it affects men more than women and can be found in people of all ethnic backgrounds.

Symptoms

The symptoms of Gilbert syndrome may go undetected for years before a stressor acts on the body to increase bilirubin levels or a routine test or checkup is performed for another reason. Factors that can influence bilirubin levels include stress, demanding physical activity, dehydration, fasting, illness, infection, exposure to cold, or menstruation.

The primary symptom of Gilbert syndrome is jaundice, however, some people with the condition have reported additional symptoms, including fatigue, dizziness, or abdominal pain. But there’s some discrepancy as to whether or not these other symptoms are indicative of elevated blood levels of bilirubin. Instead, some researchers believe they may simultaneously occur due to the presence of other conditions or illnesses.  

Causes

Gilbert syndrome is a genetic, inherited condition, which means it’s passed down from families. The onset of the syndrome may be associated with the hormonal changes that occur with puberty.

People who have the syndrome have an impaired gene, called the UGT1A1 gene, which makes it difficult for the liver to sufficiently remove bilirubin from the blood. Since bilirubin isn’t excreted from the body at normal rates, it collects in the bloodstream, and eventually, it can tint the skin, eyes, and mucous membranes a shade of yellow.

Aside from a genetic variant, there are no other known causes of Gilbert syndrome. The condition isn’t linked to severe liver diseases like cirrhosis or hepatitis C, lifestyle practices, or environmental influences, states the UK’s National Health Services (NHS).

How Genetic Disorders Are Inherited

Diagnosis

Although Gilbert syndrome may be present at birth, it’s not likely to be diagnosed until after puberty—most notably the late teen years or early 20s. 

Most cases of the syndrome are found when blood tests are drawn for other conditions, like infections, illness, or routine lab work. These blood tests may reveal a slight increase in levels of bilirubin without the presence of symptoms. Your physician may make a diagnosis of Gilbert syndrome if your bilirubin is elevated without signs of hemolysis, also known as a premature breakdown of your red blood cells, or signs of liver damage.

If you’re experiencing symptoms associated with Gilbert syndrome, such as jaundice, your doctor may order lab work to assess your bilirubin levels and tests to evaluate your liver function. Additionally, your doctor may want you to complete a genetic test, though it may not be necessary to establish a diagnosis of Gilbert syndrome.

Treatment

Since Gilbert syndrome is considered a mild condition, often, it doesn’t warrant any treatment at all. Though the syndrome is lifelong, it rarely has a significant impact on your overall health. Furthermore, it doesn’t increase your chances of developing liver disease or other complications.

When jaundice is present, it tends to be temporary and brief, and it often resolves on its own. You may find that making some lifestyle changes, like staying hydrated, managing stress, and eating regular meals may minimize episodes of jaundice.

How Jaundice Is Treated

Prognosis

Gilbert syndrome won’t impact your life expectancy. In fact, new studies suggest that people with the condition may be at less risk of cardiovascular disease. Bilirubin was once thought to be toxic to the body’s cells. But emerging research suggests bilirubin may possess antioxidant, anti-inflammatory, and other beneficial properties, which protect the heart.

Increased levels of bilirubin may guard the major blood vessels of the heart from the oxidative stress associated with coronary artery disease (CAD).

Currently, more research is needed into the link between bilirubin and the protective properties it may have on the heart. At the present time, it’s unclear what mechanisms of action in the body contribute to bilirubin's antioxidant and anti-inflammatory properties. Also, it’s important to note that other studies have encountered contradictory findings between bilirubin and its protective impact on CAD.

Coping

Certain medications, like cholesterol-lowering drugs, may exacerbate jaundice. Talk to your doctor about any medications, whether prescription or over-the-counter, that you may be taking.

The genetic variants that cause Gilbert syndrome may make some individuals more susceptible to toxicity from certain medications.

A Word From Verywell

Although you can’t prevent Gilbert syndrome from occurring, generally, you won’t need to implement special dietary or fitness requirements. However, avoiding the circumstances and minimizing stressful events that may trigger jaundice or other symptoms may be helpful for keeping the condition at bay. While it’s always a bit nerve-wracking to be diagnosed with a medical condition, take comfort in remembering that jaundice tends to go away on its own. Furthermore, the life expectancy of someone with Gilbert syndrome isn’t impacted by the condition.

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Article Sources
  • Cleveland Clinic. Gilbert’s Syndrome.

  • Gupta N, Singh T, Chaudhary R, et al. Bilirubin in coronary artery disease: Cytotoxic or protective? World Journal of Gastrointestinal Pharmacology and Therapeutics. 2016 Nov 6; 7(4): 469–476. DOI: 10.4292/wjgpt.v7.i4.469.

  • National Organization for Rare Disorders. Gilbert Syndrome.

  • NHS. Gilbert’s Syndrome.

  • Wagner KH, Shiels RG, Lang CA, Khoei NS, Bulmer AC. Diagnostic criteria and contributors to Gilbert’s syndrome. Critical Reviews in Clinical Laboratory Sciences. 2018 February; 55(2): DOI: 10408363.2018.1428526.