Gilbert’s Syndrome

Gilbert's syndrome eyes

Last Updated December 20th, 2021

Overview of Gilbert’s syndrome

In the recent years, the statistics of Global Genes have shown that there are nearly 7000 rare diseases in the world and an estimated 300 million people live with those diseases. They have also established the fact that 6% of the babies are born with rare genetic diseases and about 30% of them die before the age of five. Extensive research works have proved that majority of these diseases are caused by genetic mutations and are unpredictable in most cases. These diseases typically run in the families and are usually present at birth.

Gilbert’s syndrome is one such disease. It is a genetic disorder that affects the liver and is found in 3-7% of the American population. The patients mainly exhibit jaundice-like symptoms and other associated disorders. On many occasions, the symptoms of Gilbert’s syndrome are mistaken for that of jaundice. It is therefore mandatory on the part of the doctors to recommend proper diagnosis and treatment.

What is Gilbert’s syndrome?

gilbert's syndorme liverGilbert’s syndrome (GS) is a genetic disorder of the liver that produces elevated levels of unconjugated bilirubin in the bloodstream. This condition is clinically known as hyperbilirubinemia, which presents as mild jaundice conditions. The symptoms may exacerbate under the extreme conditions of exertion and stress. The patient may exhibit abnormalities such as yellowish discoloration of the skin, sclera and the mucous membrane, caused by the abnormalities in bilirubin secretion by the liver or obstruction of the bile duct. Bilirubin is a yellowish pigment present in hemoglobin (responsible for carrying oxygen in Red Blood Cells). An increase in the concentration of bilirubin above 3 mg per dL of blood causes Gilbert’s syndrome.

What are the causes of Gilbert’s syndrome?

The first and foremost cause of Gilbert’s syndrome is the reduced activity of the enzyme glucuronosyltransferase which plays an integral role in the conjugation of bilirubin and some other lipophilic molecules. This makes the bilirubin water-soluble, and it is thereafter excreted into the duodenum through the bile. A number of complex genetic factors regulate the actions of the enzyme. So the genetic linkage of Gilbert’s syndrome is of prime importance.

Genetics of Gilbert’s syndrome

Gilbert's syndrome eyesGilbert’s syndrome is basically a phenotypic manifestation, which results from different genotypic variants of the gene regulating the actions of the enzyme. A 70-80% reduction in the glucuronidation activity of the enzyme occurs in this condition. It is caused due to mutations in the UGT1A1 gene, which is located on human chromosome 2. This gene has more than 100 variants. Abnormalities in any of these may precipitate Gilbert’s syndrome.

Studies have shown that in a large percentage of the population, Gilbert’s syndrome is associated with the homozygous A(TA7)TAA alleles. The actions of two other glucuronosyltransferase enzymes namely- UGT1A6 and UGT1A7 are also altered in 94% of the cases of Gilbert’s syndrome. The activities of the UGT1A6 and the UGT1A7 enzymes are reduced to 50% and 83% respectively.

In certain populations such as the southeast and east Asians, Gilbert’s syndrome arises from heterozygote missense mutations, which give rise to an abnormal rise in the bilirubin level. Owing to its effect on drug and bilirubin breakdown and also because of its genetic inheritance, Gilbert’s syndrome is often categorized as a minor congenital error in metabolism.

What are the main signs and symptoms of Gilbert’s syndrome?

Gilbert’s syndrome is often misdiagnosed as jaundice. Therefore a clear knowledge of the symptoms of the disease is necessary in order to facilitate proper diagnosis and treatment. Listed below are some of the noticeable symptoms of the disease-

  • Yellowish discoloration of the skin and the sclera
  • Brownish discoloration of urine
  • Tarry stools
  • Itching and irritation of the skin (without rash)
  • Nausea (usually without vomiting)
  • Weight loss
  • Loss of appetite
  • Pain in the abdomen (upper right portion)
  • Anxiety for no definite reason
  • Poor concentration
  • Fatigue
  • Occasional headaches and fever

What are the associated complications of Gilbert’s syndrome?

Gilbert’s syndrome is associated with certain serious systemic complications. The most important ones are listed below-

  • Jaundice: Mild to moderate jaundice may arise due to an abnormally elevated level of unconjugated bilirubin in the bloodstream. The patients are found to have a yellowish skin tone and a yellowish discoloration of the white portion of the eyes. The symptoms worsen under conditions such as stress, exertion, fasting and infections due to some other disease. In many cases, the disease is asymptomatic in the initial stages. In the newborns, Gilbert’s syndrome often contributes to neonatal jaundice, which is marked by a destruction of the red blood cells. This occurs due to the occurrence of diseases like the G6PD deficiency. The complications may eventually give rise to kernicterus, which is a type of neurological disability.
  • Detoxification of drugs: The enzymes responsible for Gilbert’s syndrome can also interfere with the liver’s capacity to detoxify certain drugs. For example, Gilbert’s syndrome is linked with Diarrhoea and Neutropenia in patients who are treated with irinotecan, a drug metabolized by UGT1A1.
  • Cardiovascular effects: Cardiovascular diseases have a close and inverse relationship to serum bilirubin. People having GS with mildly raised levels of bilirubin are at lower risks of coronary artery disease or atherosclerosis (thickening of the arterial walls). The slowdown of the atherosclerotic process is attributed to the dropped platelet count and the raised bilirubin level in people with Gilbert Syndrome.

Diagnosis & treatment

gilbert's syndrome geneticDoctors generally recommend the following laboratory examinations for diagnosing Gilbert’s syndrome-

  • Ultrasound of gall-bladder and liver
  • CT scan of the organs of the abdomen
  • Endoscopic Retrograde Cholangiopancreatography (to study the bile and the pancreatic ducts)
  • Full blood count

The GS patients having jaundice can be treated with enzyme inductors such as carbamazepine and Phenobarbital. Both the drugs help reduce the concentration of unconjugated bilirubin and also help alleviate other associated complications. Gilbert’s syndrome does not necessitate any treatment. The fluctuation of the bilirubin levels in the body may occasionally cause jaundice. The symptoms normalize on their own without any residual ill effect. Symptoms such as pain, slow gastric emptying, dehydration, gastroparesis, nausea, fatigue, dizziness etc. can be managed as follows:

  • Pain reliever medications such as acetaminophen and other NSAIDs can be administered.
  • A balanced diet comprising of a lot of fibers can ease constipation or slow gastric emptying.
  • Drinking plenty of fluids can help to avert dehydration, tiredness, fatigue.
  • Medications for HIV/AIDS, high cholesterol or chemotherapy should not be taken until advised by a registered medical practitioner.
  • Regular physical activity is advised to maintain weight and optimum cholesterol levels.
  • Stress management can also go a long way to prevent triggering of symptoms. Stress can be managed by meditation, relaxation techniques, mindful breathing techniques, regular physical activity etc.

The signs and symptoms associated with Gilbert’s are quite similar to jaundice.  Both the health conditions exhibit similar symptoms namely yellowish tint to the skin and the sclera, loss of appetite, brownish discoloration of the urine, skin itching without any associated rash, fatigue, etc.    Since Gilbert’s is a genetic disorder caused by increased production of bilirubin from the liver due to a reduction in glucuronidation activity, the liver loses its ability to detoxify naturally due to the blockage of bile.  Studies have recommended natural detoxification methods to counter this problem.  Milk thistle has been identified as a potent liver detoxifying agent due to the presence of Silymarin. It can be used to manage the symptoms of this condition effectively.

 

Dos and Don'ts

Dos
  • Consult your doctor if you observe symptoms such as abdominal pain or dark colored urine.
  • Inform your doctor that you have Gilbert’s syndrome. The condition alters the body’s reaction towards certain medications; so the prescriptions are made accordingly.
  • Manage stress. Learn methods to deal with stress such as listening to music, meditation, exercise and mindful breathing.
Don'ts
  • Skip meals. Stick to a balanced diet. Fasting and low-calorie diets should be avoided.
  • Consume narcotic pain relievers as they tend to cause constipation. It should be used very cautiously in patients having gastroparesis (a condition that affects the motility of the stomach).
  • Get dehydrated. Dehydration might trigger the symptoms and make the condition worse.

 

 

 

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9 benefits of walking we bet you didn’t know! Did you know walking can be the miracle pill for eternal youth? Everyone knows walking is good for…
Shilajit: A miracle Himalayan herb for an active and happy life The Himalayas contain more wonders than you thought. Shilajit is a miracle herb that is widely used in…
Experts reveal the safest ways to perform an enema at home The idea of pushing some up your rectal area might make you queasy but an enema could actually…
What is the right way to take a pregnancy test? A pregnancy test is undertaken to determine if you have conceived. A home pregnancy test is the most…
GERD heartburn
Heartburn: What are the exact symptoms and the best home remedies? There are easy home remedies for heartburn, which not only acts as a first aid when you experience…
The Cabbage Soup Diet: The healthiest way to instant weight loss Cabbage soup diet rapid weight loss diet for those who want to shed those extra pounds in less…
Barium-enema
Barium Enema Barium enema is also known as colon x-ray. Here, the patient is asked to consume small amount of…
GGt test
GGT – Gamma-Glutamyl Transferase Test GGT or gammaglutamyl transferase test is a liver function test that is used to detect the extent of…
CEA_test
Carcinoembryonic antigen (CEA) test CEA or carcinoembryonic test detects the presence of CEA antigen in your blood mainly & determines the effectiveness…
Hymenoplasty
Hymenoplasty Read on to find out all about hymenoplasty, the procedure, post-surgery care, the risks, and the benefits.
oral hygiene tips
6 shocking consequences of bad oral hygiene (and how to avoid them) Did you know bad breath is not just turning off, but also harms your body in ways you…
xylitol gum
Xylitol : Is this the right sugar substitute for you? Discovered during World War 2 owing to sugar shortage, xylitol has become a common name in pharamaceutical industry.…
avocado benefits
Avocado: 15 reasons why this fruit should be a staple in your diet Did you know that the word avocado literally means "testicles". Don't get grossed out as this power-packed fruit…
ashwagandha brain
Ashwagandha: The best-kept secret of Ayurveda now revealed! Ashwagandha literally means "smell of horse". Don't get bogged down by that one tiny detail because this ayurveduic…
Salt dangers
Sodium chloride: The wonders and dangers of the simple table salt Sodium chloride is a salt containing sodium and chlorine ions at a 1:1 ratio. It is edible and…
Kava: Is it the healthy substitute for alcohol you have been waiting for? Native to the beautiful South Pacific islands, Kava is a famous beverage rooted in the local culture. It…
fructosamine test
Fructosamine Test A fructosamine test measures blood sugar glucose content. Fructosamine level can indicate blood sugar level in past 2-3…
anoscopy
Anoscopy Anoscopy is an invasive diagnostic procedure where a small device known as anoscope will be inserted in the…
Diabetes blood test
Diabetic Profile The diabetic profile is a set of tests used for testing and monitoring the various kinds of Diabetes…
Okra: How can this nutrient-dense vegetable help you fight diabetes? Okra is a food which is rich in nutrients and minerals which are extremely essential for a healthy…
Hepatitis A virus infected liver
Hepatitis A Virus (HAV) Total Blood test to look for IgM antibodies to know if you are infected with Hepatitis A virus (HAV),…
stress depressed anxiety
Are you depressed or just stressed? Know when to see a doctor Why are some people more anxious than others? Is being depressed the same as feeling sad? Have you…
sugar toxic health
Sugar: 7 new shocking truths revealed about the sweet poison Can drinking soda bring you closer to death? Is sugar slowly poisoning you and your family? You would…
aspartame or sugar
Aspartame – Hidden truths about this storm in a teacup Aspartame, the artificial sweetener, has gone under the scanner on several occasions for allegedly doing more harm than…
High Fiber Diet – Fire up your fiber intake for these health benefits! Regular bowels, healthy detox, higher immunity, and guaranteed weight loss - a high fiber diet can bring all…
black seed oil benefits
Black Seed Oil: What secret benefits could it bestow on your health? Black seeds or nigella seeds are tiny packets of health brimming with amazing benefits. Find out why should…
DHEA wrinkles
DHEA: Now get unbelievable age defiance with this wonder hormone! DHEA is known popularly as the age-defying hormone. This supplement is widely used to slow down aging and…
Oil of Oregano: The one-stop essential oil you’ve been looking for Are you plagued by a weak immune system? High body inflammation accompanied by pain and infections? Why not…
Cayenne: The remarkable benefits of these red hot chili peppers These may make you rush for a glass of water, but cayenne pepper is actually a healthy additive…
Love tea, hate tannins? Rooibos tea is just what you need The market is brimming with a multitude of herbal teas. But what makes rooibos tea (or red bush)…
Pescatarian Diet 101: What are the inherent health advantages of this diet? People opt to become a pescatarian in order to enrich their bodies with the essential health benefits that…
shakeology woman
Meal replacement or protein drink? Learn all about Shakeology and its claims Shakeology from Beachbody claims to be the most suitable shake that can aid in weight loss, regulate blood…
ANTIPHOSPHOLIPIDANTIBODY(APL)_IgG
Antiphospholipid (APL) antibody-IgG The Antiphospholipid Antibody testing is a blood test used to determine an autoimmune disorder called Antiphospholipid syndrome linked…
vdrl test syphilis
VDRL Test The VDRL test is a blood test that is used to diagnose sexually transmitted or venereal diseases, primarily…
cystatin C
Cystatin C Test Cystatin C is a specific single-chain protein that is found in body fluids and is a biomarker for…
liver detox facts
7 liver detox facts and why ignoring these could kill you! Are you taking care of this organ that handles over 500 different vital functions in your body? Your…
L-theanine attention
L-Theanine: Better sleep, higher focus, and many other benefits Did you know that L-theanine found in green tea can make you sleep better and be focused at…
gallbladder diet tomato
Gallbladder surgery :Tips on post-operative care and diet What to eat post a gallbladder surgery? What are the key things to avoid if you had a…
Are you sure you are drinking enough water? Everyone says, drink 8 glasses of water per day. But how much truth is there in this rule…

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