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Symptoms, diagnosis and causes of gilbert's syndrome

Symptoms, diagnosis and causes of gilbert's syndrome

Symptoms, diagnosis and causes of gilbert's syndrome

Symptoms, diagnosis and causes of gilbert's syndrome

Tests and investigations

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Gilbert’s syndrome, also called ‘familial non-haemolytic jaundice’, is a benign, inherited condition characterised by abnormality in a liver enzyme which is responsible for the metabolism of bilirubin. Bilirubin is a pigment which results from the breakdown of red blood cells in the liver.

Incidence, age and sex

Gilbert’s syndrome is an uncommon disorder which is usually detected in the pubertal age group. Its incidence is more in men as compared with women. Gilbert’s syndrome has no specific racial or ethnic predilection.

Signs and symptoms

Individuals affected with Gilbert’s syndrome, generally do not present with any characteristic symptoms. The affected individuals may complain of vague features like fatigue, loss of appetite or abdominal pain. Sometimes there may be no apparent clinical symptom. Physical examination of the individual may reveal jaundice which is defined as yellow discolouration of skin and the sclera (whites of the eyes). The jaundice may typically occur when the affected individual is fasting, dehydrated or under emotional stress.

The absence of any peculiar symptoms in Gilbert’s syndrome usually leads to its late diagnosis. Though the disease is inherited and present since birth, it may not be diagnosed before puberty in most of the individuals. Sometimes it is an incidental finding on blood test which may reveal high bilirubin level. The investigation of choice to diagnose this condition is an ‘Indirect Bilirubin blood Test’.

Causes and prevention

Gilbert’s syndrome is a genetic disorder which occurs as a result of genetic mutation in chromosome 2; this may in turn leads to abnormality in enzyme glucuronosyltransferase which is responsible for the bilirubin metabolism. Thus, bilirubin metabolism gets disrupted, resulting in high bilirubin levels in the blood which is manifested by jaundice. It is an autosomal recessive disorder, meaning that an individual may be afflicted with Gilbert’s syndrome, only if he/she has abnormal genes from both the parents. Unfortunately, this is not a preventable condition.

 Complications

There are no health-related complications of Gilbert’s syndrome. It is a benign condition wherein the jaundice may appear off and on. It is not known to be associated with any morbidity or mortality.

Submit a request for further information, a quotation or indicative cost. Your enquiry will be forwarded to up to 3 private healthcare providers. They will respond directly with further information.

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