CASE HISTORY:

Mrs. Ajay Dath, 24 years male got admitted with complaints of fever past 4 days low grade, intermittent, evening rise of temperature.

History of chills and rigor present.

Generalized tiredness/easy fatigability present. He is known case of Gilbert syndrome on treatment. He had a past history of jaundice @ 19 years old. Then recurrent of jaundice occurs @ 21 years. His maternal uncle had a same illness but not on treatment. He is a non-alcoholic and non-smoker. He is a vegetarian. He took three meals per day. His bowel and bladder moments are normal.

INTRODUCTION:

Gilbert's syndrome is an inherited condition that's often discovered by accident, such as when someone has a blood test. It occurs due to a defect in the processing of bilirubin by the liver.

The syndrome may cause the skin and the whites of the eyes to have a yellow tinge due to the build-up of Bilirubin.

Gilbert's syndrome is typically harmless and treatment isn't required.

DEFINITION:

Gilbert's (zheel-BAYRS) syndrome is a common, harmless liver condition in which the liver doesn't properly process Bilirubin. Bilirubin is produced by the breakdown of red blood cells

INCIDENCE:

IT has to been reported that the prevalence Gilbert's syndrome between 4% and16% in different populations. During Adolescence. There is a change in the sex steroid concentration which affects the metabolism which leads to increased Bilirubin Levels.

TERMINOLOGY:

Other names: Meulengracht syndrome, Gilbert...

Differential diagnosis: Crigler –Najjar syndrome

ETIOLOGY:

An abnormal gene you inherit from your parents causes Gilbert's syndrome. The gene normally controls an enzyme that helps break down bilirubin in your liver. When you have an ineffective gene, your blood contains excess amounts of bilirubin because your body doesn't produce enough of the enzyme.

In people with Gilbert's syndrome, bilirubin levels may increase and jaundice may become apparent because of:

· Illness, such as a cold or the flu.

· Fasting or eating a very low-calorie diet.

· Dehydration.

· Menstruation.

· Stress.

· Strenuous exercise.

· Lack of sleep.

· Male Gender

· Family history of Gilbert’s disease.

PATHOPHYSIOLOGY:

Gilbert's syndrome is due to a mutation in the UGT1A1 gene which results in decreased activity of the bilirubin uridine diphosphate glucuronosyltransferase enzyme. It is typically inherited in an autosomal recessive pattern and occasionally in an autosomal dominant pattern depending on the type of mutation.

SYMPTOMS:

Symptoms, whether connected or not to GS, have been reported in a subset of those affected: feeling tired all the time (fatigue), difficulty maintaining concentration, unusual patterns of anxiety, loss of appetite, nausea, abdominal pain, loss of weight, itching (with no rash), and others such as humor change or depression. But scientific studies found no clear pattern of adverse symptoms related to the elevated levels of unconjugated bilirubin in adults.

Genetics:

Gilbert's syndrome is a phenotypic effect, mostly associated with increased blood bilirubin levels, but also sometimes characterized by mild jaundice due to increased unconjugated bilirubin, that arises from several different genotypic variants of the gene for the enzyme responsible for changing bilirubin to the conjugated form.

Gilbert's syndrome is characterized by a 70–80% reduction in the glucuronidation activity of the enzyme (UGT1A1). The UGT1A1 gene is located on human chromosome 2.³¹

More than 100 variants of the UGT1A1 gene are known, designated as UGT1A1*n (where n is the general chronological order of discovery), either of the gene itself or of its promoter region. UGT1A1 is associated with a TATA box promoter region; this region most commonly contains the genetic sequence A(TA)₆TAA; this variant accounts for about 50% of alleles in many populations.

However, several allelic polymorphic variants of this region occur, the most common of which results from adding another dinucleotide repeat TA to the promoter region, resulting in A(TA)₇TAA, which is called UGT1A1*28; this common variant accounts for about 40% of alleles in some populations, but is seen less often, around 3% of alleles, in Southeast and East Asian people and Pacific Islanders.

In most populations, Gilbert's syndrome is most commonly associated with homozygous A(TA)₇TAA alleles. In 94% of GS cases, two other glucuronosyltransferase enzymes, UGT1A6 (rendered 50% inactive) and UGT1A7 (rendered 83% ineffective), are also affected.

However, Gilbert's syndrome can arise without TATA box promoter polymorphic mutations; in some populations, particularly healthy Southeast and East Asians, Gilbert's syndrome is more often a consequence of heterozygote missense mutations (such as Gly71Arg also known as UGT1A1*6, Tyr486Asp also known as UGT1A1*7, Pro364Leu also known as UGT1A1*73) in the actual gene coding region, which may be associated with significantly higher bilirubin levels.

Because of its effects on drug and bilirubin breakdown and because of its genetic inheritance, Gilbert's syndrome can be classed as a minor inborn error of metabolism.

Diagnosis:

People with GS predominantly have elevated unconjugated bilirubin, while conjugated bilirubin is usually within the normal range and is less than 20% of the total. Levels of bilirubin in GS patients are reported to be from 20μM to 90μM (1.2 to 5.3mg/dl) compared to the normal amount of < 20μM. GS patients have a ratio of unconjugated/conjugated (indirect/direct) bilirubin commensurately higher than those without GS.

The level of total bilirubin is often further increased if the blood sample is taken after fasting for two days, and a fast can, therefore, be useful diagnostically. A further conceptual step that is rarely necessary or appropriate is to give a low dose of phenobarbital: the bilirubin will decrease substantially.

Tests can also detect DNA mutations of UGT1A1 by polymerase chain reaction or DNA fragment sequencing.

TREATMENT:

Gilberts disease does not require any treatment level may fluctuate it cause jaundice which may resolve on its own without any treatment and with no ill effects.

Gilberts disease does not require any treatment level may fluctuate it cause jaundice which may resolve on its own without any treatment and with no ill effects. Symptomatic treatment may be needed for some patient

Phenobital will reduce the unconjugated bilirubin level by enhancing glucouronyl tranferase enzyme activity.

· Avoiding alcohol consumption

· Eating well balanced diet

· Avoid fasting or skipping meals

· Plenty of oral fluids

Manage stress by doing meditation and exercise or listening to music.

COMPLICATION:

· Oesophageal bleeding

· Hepato pulmonary disease

· Refractory ascitis

· Hepatic vein thrombosis

· Increased risk of gall stone

· Spleenomegaly and hepatomegaly

Its may increase the side effects of certain medication such as note can to treat cancer chemotherapy an anti HIV drugs

Symptomatic treatment may be needed for some patient

Phenobital will reduce the unconjugated bilirubin level by enhancing glucouronyl tranferase enzyme activity.

· Avoiding alcohol consumption

· Eating well balanced diet

· Avoid fasting or skipping meals

· Plenty of oral fluids

Manage stress by doing meditation and exercise or listening to music.

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Received on 29.03.2021 Modified on 11.04.2021

Int. J. Nur. Edu. and Research. 2021; 9(3):385-388.

DOI: 10.52711/2454-2660.2021.00090