Materiały źródłowe

• #1 Gilbert Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK470200/

  Gilbert syndrome is a common genetic disorder affecting bilirubin metabolism in the liver. […] Diagnosing Gilbert syndrome involves excluding other causes of hyperbilirubinemia. […] Careful clinical assessment, targeted laboratory evaluation, and exclusion of other differential diagnoses associated with unconjugated hyperbilirubinemia, including other acute and chronic liver diseases, should be performed before diagnosing Gilbert syndrome. […] Genetic testing with assays of UGT1A1 activity and polymerase chain reaction to identify gene polymorphisms in the TATA box of UGT1A1 can be considered in cases of diagnostic uncertainty when starting drugs that may affect UGT1A1 activity. […] Patients with Gilbert syndrome do not require treatment. […] Therefore, management primarily consists of reassuring patients and their families that this is a benign condition that does not require further testing. […] Patients with Gilbert syndrome have an excellent prognosis. […] Patients and their families should be informed of the disease’s inherited and benign nature, and unnecessary testing should be avoided.

• #1 Gilbert’s Syndrome: Symptoms, Causes, Tests & Treatment

  https://my.clevelandclinic.org/health/diseases/17661-gilberts-syndrome

  As a genetic condition, Gilbert’s syndrome is present at birth. It often remains undiagnosed until blood tests detect high bilirubin levels. Diagnosis most commonly occurs when people are in their teens or early adulthood and getting blood tests for something else. […] In addition to blood tests, you may get: Liver function tests to assess how well your liver is working and measure bilirubin levels. Genetic tests to check for the gene mutation that causes Gilbert’s syndrome.

• #1 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Gilberts-Syndrome-Diagnosis.aspx

  Gilberts syndrome is usually without symptoms. Patients with the condition may develop mild jaundice. […] Usually the condition is diagnosed in the late teens or early twenties. Many patients suffering from this condition are unaware and it does not hamper their daily living in any manner. […] A confirmed diagnosis of Gilberts syndrome that usually requires no treatment allays these fears. Usually Gilberts syndrome is a chance finding that is detected on routine blood tests. […] Thus for diagnosis of Gilberts syndrome steps taken include medical history, physical examination and so forth. […] Detailed medical history is taken, including past history of jaundice and family history of long standing jaundice or Gilberts syndrome. […] This involves a thorough look at liver and gastrointestinal system. Jaundice can be detected clinically in the eyes, skin and oral mucous membranes.

• #1 Gilbert syndrome – Symptoms, diagnosis and treatment | BMJ Best Practice US

  https://bestpractice.bmj.com/topics/en-us/346

  Gilbert syndrome is a genetic syndrome of mild unconjugated hyperbilirubinemia, by definition 6 mg/dL (rarely exceeding 4 mg/dL). The liver function is otherwise normal. […] Common syndrome affecting approximately 6% of the general population. […] Presentation usually asymptomatic, with mild icterus (jaundice) seen during times of fasting or physiologic stress. […] No treatment is needed since there is no liver injury or progression to end-stage liver disease. […] Key diagnostic factors include postpubertal age, positive family history of GS, icterus (jaundice), absence of hepatosplenomegaly, and no stigmata of chronic liver disease. […] 1st tests to order include unconjugated bilirubin, liver aminotransferases, gamma-glutamyl transpeptidase, lactate dehydrogenase, CBC, peripheral blood smear, and direct Coombs’ test. […] Tests to consider include liver biopsy, plasma unconjugated bilirubin response to fasting, plasma unconjugated bilirubin response to nicotinic acid, UGT1A1 genotyping, and UDPGT enzyme activity.

• #1 Gilbert syndrome – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/gilberts-syndrome/diagnosis-treatment/drc-20372816

  Your health care provider may suspect Gilbert syndrome if you have unexplained jaundice or if the level of bilirubin is elevated in your blood. […] To rule out more-common liver conditions, your health care provider may order a complete blood count and liver function tests. […] The combination of standard blood counts and liver enzymes with an elevated bilirubin level is an indicator of Gilbert syndrome. No other testing usually is needed, although genetic testing can confirm the diagnosis.

• #1 Symptoms, tests and diagnosis for Gilbert’s syndrome – British Liver Trust

  https://britishlivertrust.org.uk/information-and-support/liver-conditions/gilberts-syndrome/symptoms-tests-and-diagnosis/

  Gilberts syndrome is diagnosed by looking at your bilirubin level and ruling out other possible conditions. This is called a diagnosis of exclusion. […] You will be diagnosed with Gilberts syndrome if all of these apply: […] Your liver blood test found a higher than normal amount of bilirubin […] Your other test results were all normal […] You have no symptoms of other liver conditions […] You have jaundice that comes and goes. […] If your doctor is not certain that your condition is Gilberts syndrome, or if they think you might have another liver condition as well, you should be referred to a specialist for more tests.

• #1 GILBERT’S SYNDROME-a patient’s guide – Family Doctor

  https://familydoctor.co.nz/categories/liver-problems/gilberts-syndrome-a-patients-guide/

  Gilbert’s syndrome is a common inherited disorder that affects the processing by the liver of the pigments in the bile called bilirubin. This article outlines its benign nature and how it is diagnosed. […] The diagnosis is made most often following routine screening blood tests or when fasting associated with surgery or intercurrent illness unmasks the hyperbilirubinemia. […] The diagnosis of Gilbert’s syndrome is suggested by the clinical finding of mild chronic unconjugated hyperbilirubinemia. […] Given the above considerations, a presumptive diagnosis of Gilbert’s syndrome can be made in an essentially asymptomatic individual if he /she has (1) unconjugated hyperbilirubinemia on several occasions; (2) normal results of a complete blood cell count, blood smear, and reticulocyte count; and (3) normal liver enzyme tests and (4) other disease processes have been excluded. […] If no further laboratory abnormalities develop on two or three follow-up tests during the next 12 to 18 months, then the presumptive diagnosis becomes definitive.

• #1 Two easy-to-perform diagnostic tests for Gilbert’s syndrome – PubMed

  https://pubmed.ncbi.nlm.nih.gov/12166768/

  Gilbert’s syndrome is a benign, often familial condition characterized by asymptomatic jaundice. A clinical diagnosis of Gilbert’s syndrome is usually followed in case of mild hyperbilirubinemia with a high fraction of unconjugated bilirubin, normal values of liver enzymes, and no overt signs of hemolysis. […] Rifampicin test and caloric restriction test were applied to assure the patient had Gilbert’s syndrome. These two non-invasive diagnostic means, with the benefit of avoiding hazardous liver biopsy, are gaining popularity in our routine Gilbert’s syndrome examination.

• #1 Investigation of Gilbert’s Syndrome

  http://www.teveritt.co.uk/clinical_chemistry/guidelines/gilberts.htm

  Gilberts syndrome is a common (occurring in ~5% of population) and benign condition characterized by recurrent episodes of mild jaundice, the total bilirubin concentration being less than 100 umol/L. […] In addition to showing that the hyperbilirubinaemia is due to unconjugated bilirubin and excluding haemolysis, caloric deprivation or fasting may be used sometimes to confirm a diagnosis of Gilberts syndrome. […] If no liver pathology or intravascular haemolysis, raised unconjugated bilirubin consistent with Gilberts syndrome. […] It is rarely necessary but if further confirmation of Gilberts is required the response to fasting can be studied. Following a 24-hour fast (or 48 hours of a low caloric diet) there is a 2 to 3 fold increase in unconjugated bilirubin in subjects with Gilberts syndrome.

• #1 Gilbert Syndrome | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/22249

  Gilbert syndrome does not require treatment but must be distinguished from other disorders of unconjugated hyperbilirubinemia. […] Careful clinical assessment, targeted laboratory evaluation, and exclusion of other differential diagnoses associated with unconjugated hyperbilirubinemia, including other acute and chronic liver diseases, should be performed before diagnosing Gilbert syndrome. […] Gilbert syndrome is associated with an isolated unconjugated hyperbilirubinemia with a serum total bilirubin below 4 mg/dL. […] Genetic testing with assays of UGT1A1 activity and polymerase chain reaction to identify gene polymorphisms in the TATA box of UGT1A1 can be considered in cases of diagnostic uncertainty when starting drugs that may affect UGT1A1 activity. […] Patients with Gilbert syndrome do not require treatment.

• #1 Unconjugated Hyperbilirubinemia Workup: Approach Considerations, Crigler-Najjar Syndrome, Gilbert Syndrome

  https://emedicine.medscape.com/article/178841-workup

  As a rule, Gilbert syndrome can be diagnosed by a thorough history and physical examination and confirmed by standard blood tests. Repeated investigations and invasive procedures are not usually justified for establishing a diagnosis. […] Hyperbilirubinemia is the only biochemical serum abnormality in Gilbert syndrome. Serum bilirubin concentrations range from 1-5 mg/dL. […] Additional diagnostic tests are rarely required, because a diagnosis of Gilbert syndrome can generally be made on the basis of the following findings: Unconjugated hyperbilirubinemia noted on several occasions, Normal results from the CBC, reticulocyte count, and blood smear, Normal liver function test (LFT) results, An absence of other disease processes. […] Nevertheless, certain specialized tests (including some that are of historical interest, as well as the newer molecular genetic techniques) are occasionally performed to confirm a diagnosis of Gilbert syndrome. […] PCR assay is a novel and rapid method of identifying genetic polymorphisms in the TATA box of the UGT1A1 gene by using fluorescence resonance energy transfer. It is well recognized that genetic testing can confirm the diagnosis of Gilbert Syndrome in settings where there is diagnostic confusion.

• #1 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Gilberts-Syndrome-Diagnosis.aspx

  Liver biopsy involves taking a sample tissue from the liver using a long hollow needle. This test is not required to diagnose Gilberts syndrome. […] However, if the clinical findings are inadequate and there is a confusion regarding diagnosis, this test may be prescribed to exclude other liver diseases. […] Although the disease is caused due to a faulty gene that codes for the UGT enzyme, there are no specific prescribed genetic tests to diagnose Gilberts syndrome. […] Genetic tests looking at the UGT1A1 gene may however be used in the laboratory to confirm the diagnosis. This is not recommended routinely. […] Other diagnosis that needs to be ruled out includes Crigler-Najjar syndrome type I and type II.

• #1

  https://childshealth.zaslavsky.com.ua/index.php/journal/article/view/953

  We searched for published and unpublished research using PubMed as the search engine by the keywords: Gilberts syndrome, clinical manifestation, diagnosis, treatment, taking into consideration studies conducted in the last 10 years, citation review of relevant primary and review articles, conference abstracts, personal files, and contact with expert informants. […] Diagnostic criteria for GS: 1. A peculiar pale yellowish discoloration of the skin (teinte bilieuse), especially on the face, hands, and feet without a distinct scleral icterus. Sometimes the development of repeatedly intermittent episodes of jaundice with high bilirubinemia (indirect bilirubin) without the evidence of hemolysis (differential diagnostic feature) is observed. 2. A tendency to development of pigmented and vascular nevi and xanthelasma of the eyelids, and hyperpigmentation around the eyes; to bradycardia, hypothermia, migraine, postural, intermittent albuminuria or to alimentary glycosuria. 3. An increased tendency to pigmentation under the influence of light, heat, and also chemical and mechanical stimuli. 4. A neuromuscular hyperexcitability. 5. Increased sensitivity to cold. 6. Dyspeptic complaints (pain, nausea, abdominal bloating, diarrhea or constipation). 7. No signs of increased hemolysis (differential diagnostic feature) with increasing content in, bilirubin (differential diagnostic feature). 8. The majority of patients have normal liver function tests (differential diagnostic feature) also normal bromsulphalein test is also normal (differential diagnostic feature). 9. The biochemical abnormality is not detected by histological methods (differential diagnostic feature) .10. Frequently, a family disease of the liver is observed. […] The differential diagnosis of GS is conducted with all types of hyperbilirubinemias, hemolytic anemias, congenital hepatic cirrhosis, hepatitis, cholecystopathy, atresia of biliary ducts or the small intestine.

• #1

  https://omim.org/entry/143500

  A number sign (#) is used with this entry because Gilbert syndrome is caused by homozygous, compound heterozygous, or heterozygous mutation in the UDP-glucuronosyltransferase gene (UGT1A1; 191740) on chromosome 2q37. […] Schmid (1995) pointed out that Gilbert syndrome is an entirely benign and clinically inconsequential entity, requiring neither treatment nor long-term medical attention. Its clinical importance lies in the fact that the mild hyperbilirubinemia may be mistaken for a sign of occult, chronic, or progressive liver disease. Since the diagnosis is largely one of exclusion, clinicians sometimes find it difficult to dispel lingering fears of serious liver disease, causing patients unwarranted anxiety. […] Patients with Gilbert syndrome tend to have total serum bilirubin levels from 1-6 mg/dL. This is distinguished from Crigler-Najjar syndrome type II, in which patients have total serum bilirubin levels between 6 and 20 mg/dL, and Crigler-Najjar syndrome type I, in which patients have total serum bilirubin levels from 20 to 45 mg/dL.

• #1 Gilbert’s Syndrome | Doctor

  https://patient.info/doctor/gilberts-syndrome-pro

  Gilbert’s syndrome is usually diagnosed around puberty, when an increase in serum concentration of unconjugated bilirubin can lead to intermittent episodes of non-pruritic jaundice precipitated by: […] These investigations are diagnostic in the context of a patient showing: […] Mild hyperbilirubinaemia can be mistaken for a sign of occult, chronic, or progressive liver disease, and precise diagnosis is important to avoid unnecessary invasive investigations. […] Very rarely, genetic testing may be available to confirm Gilbert’s syndrome if there is any doubt.

• #1 Gilbert’s Syndrome | Digestive Care Center

  https://dccevv.com/conditions/gilberts-syndrome/

  Gilberts syndrome is a common, often inherited disorder that affects processing by the liver of the greenish-brown pigments in bile (called bilirubin). […] Gilberts syndrome affects about 5% of the population. It is usually detected by chance often at a routine medical examination, in adolescence or early adult life. […] Blood tests are usually carried out simply to make a diagnosis and to exclude liver disease. […] Knowing about the diagnosis of the harmless Gilberts syndrome, therefore, not only provides reassurance to sufferer, family and close associates, but also to the family doctor who would otherwise subject the yellow patient to a series of investigations out of concern to exclude more serious illnesses.

• #1 Gilbert syndrome – Symptoms & causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/gilberts-syndrome/symptoms-causes/syc-20372811

  Gilbert syndrome is an inherited genetic condition. You might not know you have Gilbert syndrome until it’s discovered by accident, such as when a blood test shows raised bilirubin levels. […] Make an appointment with your health care provider if you have jaundice, which has many possible causes. […] Gilbert syndrome is caused by a modified gene you inherit from your parents. This gene usually controls an enzyme that helps break down bilirubin in your liver. […] The low level of the bilirubin-processing enzyme that causes Gilbert syndrome may also increase the side effects of certain medications, since this enzyme plays a role in helping clear these medications from your body.

• #1 Gilbert’s Disease – Benign Liver Disorder – GI AssociatesAccessibility ToolsIncrease TextDecrease TextGrayscaleHigh ContrastNegative ContrastLight BackgroundLinks UnderlineReadable FontReset

  https://giassoc.org/conditions/gilberts-disease/

  Gilbert’s disease is a relatively common and benign liver disorder. […] The diagnosis is made most commonly when you are in your teens or early adulthood. The diagnosis is with a blood test. An elevated serum bilirubin level is obtained. […] Many times individuals with Gilbert’s disease are unaware that they have the disease. […] The bilirubin levels in Gilbert’s disease increase if you do not eat and when you have a fever or other illness such as influenza. […] Typically the other liver function tests are normal.

• #2 Patient education: Gilbert syndrome (Beyond the Basics) – UpToDate

  https://www.uptodate.com/contents/gilbert-syndrome-beyond-the-basics

  Gilbert syndrome is an inherited disorder of the liver that results in an overabundance of a substance known as bilirubin. […] The diagnosis of Gilbert syndrome is suspected in people who have persistently slightly elevated levels of unconjugated bilirubin without any other apparent cause. A clinician may order several blood tests and possibly an ultrasound of the liver to make sure that there is no other cause of the high bilirubin levels. […] Genetic testing can also confirm the diagnosis; however, genetic testing is not widely available and is generally not required.

• #2 Gilbert’s syndrome – British Liver Trust

  https://britishlivertrust.org.uk/information-and-support/liver-conditions/gilberts-syndrome/

  Most people are diagnosed in their teens or early 20s. […] If you have more serious symptoms, it is important to have more tests. It is possible to have another condition at the same time as Gilberts syndrome. […] Next symptoms, tests and diagnosis

• #2 Gilbert’s Syndrome: Symptoms, Causes, Diagnosis, and Treatment

  https://www.healthline.com/health/gilberts-syndrome

  Your doctor may test you for Gilberts syndrome if they notice jaundice without other signs or symptoms of a liver problem. […] Even if you dont have jaundice your doctor may notice higher levels of bilirubin during a routine liver function blood test. […] Youll likely be diagnosed with Gilberts syndrome if your liver tests show increased bilirubin and there is no other evidence of liver disease. […] In some cases, your doctor might also use a genetic test to check for the gene mutation responsible for the condition.

• #2 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Gilberts-Syndrome-Diagnosis.aspx

  Gilberts syndrome is usually without symptoms. Patients with the condition may develop mild jaundice. […] Usually the condition is diagnosed in the late teens or early twenties. Many patients suffering from this condition are unaware and it does not hamper their daily living in any manner. […] A confirmed diagnosis of Gilberts syndrome that usually requires no treatment allays these fears. Usually Gilberts syndrome is a chance finding that is detected on routine blood tests. […] Thus for diagnosis of Gilberts syndrome steps taken include medical history, physical examination and so forth. […] Detailed medical history is taken, including past history of jaundice and family history of long standing jaundice or Gilberts syndrome. […] This involves a thorough look at liver and gastrointestinal system. Jaundice can be detected clinically in the eyes, skin and oral mucous membranes.

• #2 Gilbert’s syndrome

  https://www.nhs.uk/conditions/gilberts-syndrome/

  Gilbert’s syndrome can be diagnosed using a blood test to measure the levels of bilirubin in your blood and a liver function test. […] If the test results show you have high levels of bilirubin in your blood, but your liver is otherwise working normally, a confident diagnosis of Gilbert’s syndrome can usually be made. […] Sometimes, a genetic test may be necessary to confirm a diagnosis of Gilbert’s syndrome.

• #2 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Gilberts-Syndrome-Diagnosis.aspx

  Routine blood counts are prescribed. This can often indicate infectious liver diseases or other infections that may lead to raised white blood cell counts. […] A normal number of reticulocytes indicates Gilberts syndrome and absence of haemolytic anemia. […] Liver function tests are ordered. Primarily a rise in unconjugated bilirubin is found in blood. […] If the other parameters like conjugated bilirubin and liver enzyme levels (AST Aspartate transaminase, ALT Alanine transaminase and lactate dehydrogenase) are normal and there is elevation of unconjugated bilirubin, Gilberts syndrome is suspected. […] The bilirubin level is raised if the patient is fasted for around 48 hours or if a drug Nicotinic acid is given intravenously. This is diagnostic of unconjugated hyperbilirubinemia that occurs in Gilberts syndrome.

• #2

  https://omim.org/entry/143500

  A number sign (#) is used with this entry because Gilbert syndrome is caused by homozygous, compound heterozygous, or heterozygous mutation in the UDP-glucuronosyltransferase gene (UGT1A1; 191740) on chromosome 2q37. […] Schmid (1995) pointed out that Gilbert syndrome is an entirely benign and clinically inconsequential entity, requiring neither treatment nor long-term medical attention. Its clinical importance lies in the fact that the mild hyperbilirubinemia may be mistaken for a sign of occult, chronic, or progressive liver disease. Since the diagnosis is largely one of exclusion, clinicians sometimes find it difficult to dispel lingering fears of serious liver disease, causing patients unwarranted anxiety. […] Patients with Gilbert syndrome tend to have total serum bilirubin levels from 1-6 mg/dL. This is distinguished from Crigler-Najjar syndrome type II, in which patients have total serum bilirubin levels between 6 and 20 mg/dL, and Crigler-Najjar syndrome type I, in which patients have total serum bilirubin levels from 20 to 45 mg/dL.

• #2 Gilbert syndrome: Symptoms, diet, and treatment

  https://www.medicalnewstoday.com/articles/166971

  A blood test can detect whether bilirubin levels are higher than usual. […] Persons with Gilbert syndrome are usually diagnosed in their late teens or early twenties. […] Diagnosis is based on the presence of mildly elevated unconjugated bilirubin levels in the blood and the proper clinical situation. […] Genetic testing is usually not required. […] Diagnosis can be confirmed by giving phenobarbital, which lowers bilirubin levels, and intravenous nicotinic acid, which will raise bilirubin levels. […] The elevated bilirubin level is usually noticed either in routine lab tests in patients who have no symptoms, or when a liver profile is ordered because the patient has jaundice. […] If test results show that water-insoluble bilirubin levels are high, but other tests are normal, Gilberts syndrome is the most likely diagnosis.

• #2 Diagnosis – Primary Care Notebook

  https://primarycarenotebook.com/pages/diabetes-and-endocrinology/gilberts-disease/diagnosis

  It is a diagnosis of exclusion – typically made after ruling out other causes of raised unconjugated bilirubin (1). […] Diagnosis of Gilbert’s syndrome can be based on when the person has: […] no overt or clinically recognised haemolysis […] normal liver function tests […] no systemic symptoms (3) […] a fall in bilirubin with phenobarbitone – a non-specific liver enzyme induction effect. […] In an asymptomatic adult who presents with an increased bilirubin level that is: […] 3 times the upper limit of normal with 70% of bilirubin unconjugated and liver function tests are otherwise normal – the diagnosis is probably Gilbert’s syndrome […] interval retest in 1-3 months with proportion of indirect (unconjugated) bilirubin should be done […] if the level of unconjugated bilirubin is non progressive, no further testing is needed

• #2 Gilbert syndrome – Symptoms, diagnosis and treatment | BMJ Best Practice US

  https://bestpractice.bmj.com/topics/en-us/346

  Gilbert syndrome is a genetic syndrome of mild unconjugated hyperbilirubinemia, by definition 6 mg/dL (rarely exceeding 4 mg/dL). The liver function is otherwise normal. […] Common syndrome affecting approximately 6% of the general population. […] Presentation usually asymptomatic, with mild icterus (jaundice) seen during times of fasting or physiologic stress. […] No treatment is needed since there is no liver injury or progression to end-stage liver disease. […] Key diagnostic factors include postpubertal age, positive family history of GS, icterus (jaundice), absence of hepatosplenomegaly, and no stigmata of chronic liver disease. […] 1st tests to order include unconjugated bilirubin, liver aminotransferases, gamma-glutamyl transpeptidase, lactate dehydrogenase, CBC, peripheral blood smear, and direct Coombs’ test. […] Tests to consider include liver biopsy, plasma unconjugated bilirubin response to fasting, plasma unconjugated bilirubin response to nicotinic acid, UGT1A1 genotyping, and UDPGT enzyme activity.

• #2 Gilbert Syndrome – Causes, Symptoms, Diagnosis, and Treatment PACE Hospitals – Best Hospitals in Hitech City, Hyderabad, India | Near Madhapur, Kukatpally, KPHB, Kondapur, Gachibowli, Jubilee Hills, Banjara HillsPACE Hospitals Contact Num

  https://www.pacehospital.com/gilbert-syndrome-causes-symptoms-diagnosis-treatment

  Gilbert syndrome diagnosis includes the following: […] Review of the medical history […] Physical examination of the patient […] Complete blood count and other necessary blood tests: To measure levels of bilirubin in blood. […] Urine test […] Gilbert syndrome is correlated with an isolated unconjugated hyperbilirubinemia, with a serum total bilirubin of up to 4 mg/dL. This syndrome can be diagnosed by a blood test which measures levels of bilirubin in serum and liver function tests. […] If liver function test results show high levels of bilirubin in the blood and the liver shows normal function, then a confirmed diagnosis of Gilbert syndrome can be made. […] Genetic testing can be performed with assays of UGT1A1 activity and polymerase chain reaction (PCR). It is performed to identify gene polymorphism and can be considered in case of diagnostic uncertainty, especially when certain drugs may affect UGT1A1 activity.

• #2 Unconjugated Hyperbilirubinemia Workup: Approach Considerations, Crigler-Najjar Syndrome, Gilbert Syndrome

  https://emedicine.medscape.com/article/178841-workup

  As a rule, Gilbert syndrome can be diagnosed by a thorough history and physical examination and confirmed by standard blood tests. Repeated investigations and invasive procedures are not usually justified for establishing a diagnosis. […] Hyperbilirubinemia is the only biochemical serum abnormality in Gilbert syndrome. Serum bilirubin concentrations range from 1-5 mg/dL. […] Additional diagnostic tests are rarely required, because a diagnosis of Gilbert syndrome can generally be made on the basis of the following findings: Unconjugated hyperbilirubinemia noted on several occasions, Normal results from the CBC, reticulocyte count, and blood smear, Normal liver function test (LFT) results, An absence of other disease processes. […] Nevertheless, certain specialized tests (including some that are of historical interest, as well as the newer molecular genetic techniques) are occasionally performed to confirm a diagnosis of Gilbert syndrome. […] PCR assay is a novel and rapid method of identifying genetic polymorphisms in the TATA box of the UGT1A1 gene by using fluorescence resonance energy transfer. It is well recognized that genetic testing can confirm the diagnosis of Gilbert Syndrome in settings where there is diagnostic confusion.

• #2 Gilbert’s syndrome (UGT1A1 gene) | Clinical Diagnosis | Molecular genetics | Services | Biopticka laborator s.r.o.

  https://www.biopticka.cz/en/services/molecular-genetics/diagnostics/UGT1A1.php

  Gilbert’s syndrome (Meulengracht’s juvenile jaundice, benign intermittent jaundice) is an autosomal recessive disease characterised by a benign indirect hyperbilirubinemia with intermittent symptoms of jaundice. […] Therefore, it is reccomended to examine the patient for the presence of TA insertion in the UGT promoter of the 1A1 gene. […] Diagnosis is confirmed in the case of 7TA/7TA genotype. In other cases (6TA/7TA or 6TA/6TA genotypes), it is possible to perform the mutation analysis of the whole UGT 1A1 gene by direct sequencing assuming that the clinical symptoms and biochemical values fulfill the criteria of Gilbert’s syndrome. […] The cause of the disease Gilbert’s syndrome is an alteration of the gene UGT1A1. It is found the most (90%), insertion of dinucleotide sequence TA in the TATA box in the promoter region of the gene UGT1A1.

• #2 Gilbert’s syndrome | The London Clinic

  https://www.thelondonclinic.co.uk/services/conditions/gilberts-syndrome

  They will send you for a couple of tests including: […] Blood test to measure the levels of bilirubin in your blood […] Liver function test to check that the jaundice isnt caused by other conditions, like haemolytic anaemia or hepatitis. […] If the test results show you have high levels of bilirubin in your blood, but your liver is working well, it confirms a positive diagnosis of Gilberts syndrome. […] Your hepatologist may offer you a genetic test to confirm if you have a mutation of the UGT gene. […] You usually need to inherit abnormal copies of the UGT gene from both parents to develop Gilberts syndrome.

• #2 What is Gilbert’s Syndrome? Diagnosis & Treatment – BuzzRx

  https://www.buzzrx.com/blog/what-is-gilbert-s-syndrome-diagnosis-and-treatment

  Gilbert syndrome is diagnosed when elevated levels of bilirubin are discovered on routine blood tests or test results for other illnesses such as infections. […] If a persons bilirubin levels are high and they do not have hemolysis (premature breakdown of red blood cells) or structural liver damage, health care providers suspect Gilbert syndrome. A definitive diagnosis can be made with genetic testing. […] In people with suspected Gilbert syndrome, doctors may order tests to rule out other liver diseases that may require treatment, such as viral hepatitis or fatty liver.

• #2 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Gilberts-Syndrome-Diagnosis.aspx

  Liver biopsy involves taking a sample tissue from the liver using a long hollow needle. This test is not required to diagnose Gilberts syndrome. […] However, if the clinical findings are inadequate and there is a confusion regarding diagnosis, this test may be prescribed to exclude other liver diseases. […] Although the disease is caused due to a faulty gene that codes for the UGT enzyme, there are no specific prescribed genetic tests to diagnose Gilberts syndrome. […] Genetic tests looking at the UGT1A1 gene may however be used in the laboratory to confirm the diagnosis. This is not recommended routinely. […] Other diagnosis that needs to be ruled out includes Crigler-Najjar syndrome type I and type II.

• #2 Gilbert Syndrome | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/22249

  Gilbert syndrome does not require treatment but must be distinguished from other disorders of unconjugated hyperbilirubinemia. […] Careful clinical assessment, targeted laboratory evaluation, and exclusion of other differential diagnoses associated with unconjugated hyperbilirubinemia, including other acute and chronic liver diseases, should be performed before diagnosing Gilbert syndrome. […] Gilbert syndrome is associated with an isolated unconjugated hyperbilirubinemia with a serum total bilirubin below 4 mg/dL. […] Genetic testing with assays of UGT1A1 activity and polymerase chain reaction to identify gene polymorphisms in the TATA box of UGT1A1 can be considered in cases of diagnostic uncertainty when starting drugs that may affect UGT1A1 activity. […] Patients with Gilbert syndrome do not require treatment.

• #2 Gilbert Syndrome | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/22249

  Patients and their families should be informed of the disease’s inherited and benign nature, and unnecessary testing should be avoided. […] If the diagnosis is disputed or patients present with findings suggestive of another liver disease, they should be referred to a liver disease specialist for additional evaluation and treatment.

• #2 Gilbert’s syndrome | Better Health Channel

  https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/gilberts-syndrome

  Gilberts syndrome is characterised by the livers inability to process the yellowish-brown pigment in bile (bilirubin). […] Gilberts syndrome is considered harmless and typically doesnt need medical treatment. […] Usually, the disorder is diagnosed by chance during the investigation of unrelated illnesses. […] In many cases, Gilberts syndrome is so mild that there are no obvious symptoms. It is often diagnosed by accident when blood tests are ordered to investigate an unrelated condition. […] A genetic test exists that can detect the gene that causes Gilberts syndrome, but this is not usually necessary for a diagnosis and is not widely available.

• #2 Gilbert’s Syndrome | Digestive Care Center

  https://dccevv.com/conditions/gilberts-syndrome/

  Gilberts syndrome is a common, often inherited disorder that affects processing by the liver of the greenish-brown pigments in bile (called bilirubin). […] Gilberts syndrome affects about 5% of the population. It is usually detected by chance often at a routine medical examination, in adolescence or early adult life. […] Blood tests are usually carried out simply to make a diagnosis and to exclude liver disease. […] Knowing about the diagnosis of the harmless Gilberts syndrome, therefore, not only provides reassurance to sufferer, family and close associates, but also to the family doctor who would otherwise subject the yellow patient to a series of investigations out of concern to exclude more serious illnesses.

• #2 Gilbert’s Syndrome (UGT1A1) test | Genomic Diagnostics

  https://www.genomicdiagnostics.com.au/testing-guide/gilberts-syndrome

  Gilbert’s Syndrome (UGT1A1) test Genetic cause of mild jaundice, potential drug interaction risks. […] Testing for Gilberts syndrome may assist in differentiating the cause of isolated elevated bilirubin levels in those patients with normal test results for FBC, reticulocytes, haptoglobin and liver enzymes. […] Clinical indication For the investigation of hyperbilirubinaemia (jaundice) […] To determine greater susceptibility to irinotecan induced gastrointestinal and bone marrow toxicity.

• #2 Gilbert syndrome: Symptoms, diet, and treatment

  https://www.medicalnewstoday.com/articles/166971

  A doctor may want to do further tests to make sure the patient does not have another cause of elevated bilirubin. Some of the other causes are more serious than others. […] Gilberts syndrome does not need treatment, but, again, it is important to make sure that the person does not have another, more serious, condition.

• #3 Gilbert’s syndrome | Better Health Channel

  https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/gilberts-syndrome

  Gilberts syndrome is characterised by the livers inability to process the yellowish-brown pigment in bile (bilirubin). […] Gilberts syndrome is considered harmless and typically doesnt need medical treatment. […] Usually, the disorder is diagnosed by chance during the investigation of unrelated illnesses. […] In many cases, Gilberts syndrome is so mild that there are no obvious symptoms. It is often diagnosed by accident when blood tests are ordered to investigate an unrelated condition. […] A genetic test exists that can detect the gene that causes Gilberts syndrome, but this is not usually necessary for a diagnosis and is not widely available.

• #3 Investigation of Gilbert’s Syndrome

  http://www.teveritt.co.uk/clinical_chemistry/guidelines/gilberts.htm

  Gilberts syndrome is a common (occurring in ~5% of population) and benign condition characterized by recurrent episodes of mild jaundice, the total bilirubin concentration being less than 100 umol/L. […] In addition to showing that the hyperbilirubinaemia is due to unconjugated bilirubin and excluding haemolysis, caloric deprivation or fasting may be used sometimes to confirm a diagnosis of Gilberts syndrome. […] If no liver pathology or intravascular haemolysis, raised unconjugated bilirubin consistent with Gilberts syndrome. […] It is rarely necessary but if further confirmation of Gilberts is required the response to fasting can be studied. Following a 24-hour fast (or 48 hours of a low caloric diet) there is a 2 to 3 fold increase in unconjugated bilirubin in subjects with Gilberts syndrome.

• #3 Two easy-to-perform diagnostic tests for Gilbert’s syndrome – PubMed

  https://pubmed.ncbi.nlm.nih.gov/12166768/

  Gilbert’s syndrome is a benign, often familial condition characterized by asymptomatic jaundice. A clinical diagnosis of Gilbert’s syndrome is usually followed in case of mild hyperbilirubinemia with a high fraction of unconjugated bilirubin, normal values of liver enzymes, and no overt signs of hemolysis. […] Rifampicin test and caloric restriction test were applied to assure the patient had Gilbert’s syndrome. These two non-invasive diagnostic means, with the benefit of avoiding hazardous liver biopsy, are gaining popularity in our routine Gilbert’s syndrome examination.

• #3 Gilbert Syndrome | Genetic Testing Labs | IU School of Medicine

  https://medicine.iu.edu/genetics/genetic-testing-laboratories/test-directory/gilbert-syndrome

  This test is intended to identify the UGT1A1*28 (g.4963_4964[7]), UGT1A1*36 (g.4963_4964[5]), and UGT1A1*37 (g.4963_4964[8]) variants in UGT1A1 from genomic DNA. Information about these variants may be used as an aid to clinicians for confirming a diagnosis of Gilbert syndrome. […] Gilbert syndrome is a common condition that is estimated to affect 3 to 7 percent of Americans. […] Only the targeted variants will be detected. Mutations or variants in other genes will not be detected. Although rare, false positive or false negative results may occur. All results should be interpreted in context of clinical findings, relevant history, and other laboratory data.

• #3 Gilbert’s Syndrome Serum, Plasma Samples – Bay Biosciences

  https://baybiosciences.com/gilberts-syndrome-serum-plasma-samples/

  Doctors may also perform tests such as a liver biopsy, CT scan, ultrasound, or other blood tests to rule out any other medical conditions that could be causing or adding to the abnormal bilirubin levels. […] Usually if the liver function blood tests show increased levels of bilirubin, and there is no other evidence of liver disease, the patient is likely be diagnosed with Gilberts syndrome. In some cases, genetic test to check for the gene mutation responsible for the Gilberts syndrome is also performed.

• #3 Unusual presentation of Gilbert disease with high levels of unconjugated bilirubin: report of two cases

  http://scielo.isciii.es/scielo.php?script=sci_arttext&pid=S1130-01082016000400010

  Gilbert’s syndrome is a benign condition characterized by asymptomatic sporadic episodes of jaundice, due to a mild unconjugated hyperbilirubinemia caused by a deficiency in bilirubin glucoronidation. […] We report 2 cases of Gilbert’s syndrome, genetically tested, which presented with bilirubin levels above 6 mg/dl without any trigger or coexisting condition. […] In conclusion, bilirubin levels higher than 6 mg/dl in Gilbert syndrome are rare, hemolytic and other metabolism diseases must be ruled out, and genetic testing may be necessary in some cases. […] The objective of this article is to report 2 patients that presented with persistent high unconjugated bilirubin levels and where finally diagnosed with Gilbert’s syndrome confirmed by genetic analyses. […] The diagnosis must be suspected when persistent jaundice and elevation of unconjugated hyperbilirubinemia occur in the absence of other causes of indirect hyperbilirubinemia.

Zobacz więcej