Gilbert's syndrome
This is the commonest inherited quirk of metabolism and probably the most harmless: roughly one person in twenty has it, it is picked up more often in men…
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This is the commonest inherited quirk of metabolism and probably the most harmless: roughly one person in twenty has it, it is picked up more often in men, and as a rule it gives nothing away. Now and then the whites of the eyes turn faintly yellow for a day or two, after a sleepless night, a cold or a long stretch without food, and then clear again on their own. There is nothing to treat. The liver is intact and stays intact. The trouble that comes with Gilbert's syndrome almost never comes from the syndrome itself, but from mistaking it for liver disease or, the other way round, from blaming it for a real one.
What is actually happening in the liver
Every day red cells that have served their time break down, releasing bilirubin, a yellow pigment. In that form it does not dissolve in water, so the liver has to convert it: an enzyme attaches a sugar residue, and the now soluble bilirubin leaves in the bile towards the bowel.
In Gilbert's syndrome the gene behind that enzyme works at half power. The enzyme is there, but there is not much of it, so unprocessed bilirubin builds up in the blood. Once the level rises appreciably it tints the whites of the eyes, and with a bigger rise the skin as well. That is where it ends: liver cells are not damaged, the bile ducts are unaffected, no scar tissue forms.
The trait is inherited from parents. It is not catching, it is not brought on by eating badly, and it does not turn into anything else over the years. It does have a severe and very rare relative, Crigler-Najjar syndrome, in which the enzyme is almost entirely missing; that one shows itself in a newborn with deep jaundice and has nothing in common with ordinary Gilbert's in the way it behaves.
When the yellow shows up
It is easiest to spot in the whites of the eyes in daylight; on brown and black skin a yellow tinge to the skin is harder to make out, but the eyes give it away every time. Bilirubin fluctuates, and a rise is usually preceded by:
- a long gap without food, a strict diet, a skipped breakfast, a fast;
- not drinking enough, particularly in hot weather or after training;
- any infection with a temperature, an ordinary cold included;
- heavy physical exertion;
- a night without sleep, a shift on call, a flight across time zones;
- alcohol the evening before;
- severe stress, and also surgery under anaesthetic;
- in women, the days before a period.
It settles by itself within a few days, as soon as the person has eaten, slept and got over whatever they had. Plenty of people with the trait never turn yellow at all and find out by accident, from a blood test taken for something else entirely.
What Gilbert's syndrome never causes
This matters more than any list of symptoms, because this is where things get mixed up. The bilirubin that accumulates in Gilbert's syndrome does not pass through the kidney and does not leave in the urine, and bile flows freely down its ducts. So with this syndrome there is no:
- dark urine the colour of strong tea;
- pale, putty-coloured stool;
- itching of the skin;
- pain under the right ribs, fever or enlarged liver;
- exhaustion severe enough to stop someone working.
If the yellow arrives together with anything on that list, the inherited trait is not the explanation. Dark urine with pale stools and itching means bile is not getting out of the liver, and that is the behaviour of a stone stuck in the duct, inflammation of the bile ducts, a tumour in the head of the pancreas or drug-induced liver injury. Jaundice with fever and right-sided pain needs to be seen the same day, and if shaking chills, confusion or marked weakness join in, call an ambulance (in Europe, 112). Jaundice alongside pallor, breathlessness and dark urine points to red cells being destroyed rapidly, which again is not Gilbert's.
Tiredness deserves a note of its own. People with this diagnosis often report fatigue and a heavy feeling in the abdomen, but studies have found no link between the bilirubin level and how someone feels: the same complaints are just as common in people without the syndrome. So if you genuinely feel unwell, the cause needs looking for further afield rather than treating the question as closed.
How the diagnosis is reached
The diagnosis is assembled from simple blood tests, and in a typical case that is enough.
- Total bilirubin is moderately raised, and almost all of the rise sits in the indirect, unconjugated fraction.
- Liver enzymes are normal, which is the main argument against liver disease.
- The full blood count and reticulocytes are normal, ruling out rapid destruction of red cells, which also raises indirect bilirubin.
- Tests for viral hepatitis come back negative.
- The figure varies from one sample to the next and climbs higher after fasting or during an illness.
A good check is to repeat the test a few weeks later at a quiet time. A genetic test exists but is rarely needed: when the picture is atypical, or when the answer matters before a particular treatment. Neither a liver biopsy nor endlessly repeated scans are required when the picture is clear, and there is no point pressing for them.
Medicines worth mentioning to a doctor
The same enzyme that is in short supply also handles some medicines. The practical consequences are few but they count.
- Certain cancer drugs, irinotecan above all, are tolerated less well with this trait: a steeper drop in white cells and more diarrhoea are possible. The oncologist should know the diagnosis before chemotherapy starts, since the dose is sometimes adjusted or the genetic test requested.
- Some HIV medicines raise bilirubin in their own right and produce a striking jaundice that does not mean liver damage.
- When any new long-term treatment begins, a doctor may bring the first blood check slightly forward. The syndrome by itself rules out no common group of medicines.
Keep a record of the diagnosis to hand, in a discharge letter or a note on your phone. It saves a fresh round of investigations every time a new doctor sees a high bilirubin on a form.
Living with it
No treatment is required because there is nothing to treat: life expectancy is ordinary, the liver does not deteriorate, and the syndrome puts no limits on work, sport or pregnancy. There is no special diet, and liver cleanses and courses of so-called liver protectors are of no use: they do not shift the bilirubin, and they do take time and money.
What genuinely helps you see less yellow is eating regularly without long fasting gaps, drinking enough, sleeping, going easy on alcohol and not throwing yourself into gruelling exertion untrained. It is worth watching for a while what in particular darkens your eyes: nearly everyone has their own list of triggers, and knowing it takes the fright out of the thing.
Two more points. Gallstones are slightly more common with this syndrome, so persistent pain under the right ribs after fatty food is worth showing to a doctor rather than putting down to your usual bilirubin. And in a newborn the trait can prolong the ordinary jaundice of the first days: if the colour lasts longer than expected the baby is watched more closely, and where it coincides with other inherited blood conditions the jaundice is more pronounced and needs treatment with light.
Online consultation
A remote appointment fits this subject better than most: everything is settled by talking and looking at results, and there is nothing to examine. The usual scenario is someone arriving with a printout showing a high bilirubin and wanting to know how worried to be. The doctor will look at which fraction is raised and how the liver enzymes and blood count sit alongside it, say which two or three tests are worth adding and which investigations were suggested for no reason, and explain the signs that turn yellow eyes into something other than harmless. It is also a good moment to review medicines before planned treatment or an operation. Jaundice appearing for the first time with pain, fever, dark urine or pale stools is not a remote matter: that needs examining in person the same day.
This material is for information only and does not replace medical advice.
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