Trip Answers

Question answered:11/12/06 Warning! this question is over two years old.

GP Notebook has a chapter on Gilbert’s disease [1].  It describes the clinical features as:

 

“Patients usually present with mild jaundice and malaise, symptoms persisting throughout life. It is often a chance finding during screening, and has no significant morbidity or mortality.

 

Most of the problems in Gilbert's syndrome are iatrogenic secondary to investigation.”

 

With regard to diagnosis, they state:

 

“Diagnosis is based on:

 

hyperbilirubinaemia with normal plasma bile acids

 

an increase in unconjugated plasma bilirubin following:
  - low energy diet, especially a reduction in lipids - but a similar magnitude of increase may be seen in hepatitis
  - intravenous injection of nicotinic acid - normally rises to a maximum within 90 minutes; in Gilbert's disease, levels reach more than twice the basal level with a peak after 2 to 3 hours. The nicotinic acid causes a red cell haemolysis and thus a bilirubin load

 

a fall in bilirubin with phenobarbitone - a non-specific liver enzyme induction effect

 

Liver function tests are essentially normal except for a raised serum bilirubin. There is no bilirubinuria; unlike haemolytic anaemia, urinary urobilinogen is not increased.

 

Liver biopsy is not indicated.”

 

eMedicine, an American online textbook, also has a chapter on Gilbert Syndrome [2].  For lab studies they report:

 

“CBC count (including reticulocyte count and blood smear): This is a useful screening test to exclude hemolysis. Rarely, red blood cell abnormalities resembling variegate porphyria have been described in persons with Gilbert syndrome, possibly due to the increased hepatocellular bilirubin concentration.

 

Lactate dehydrogenase: Levels are elevated in persons with hemolysis but are normal in those with Gilbert syndrome.

 

Liver function tests: With the exception of unconjugated hyperbilirubinemia, standard liver function test results are normal. However, a familial increase in serum alkaline phosphatase levels has been reported in persons with Gilbert syndrome.”

 

They also report on other tests:

 

“Additional tests are rarely required because a diagnosis of Gilbert syndrome can be made in the presence of (1) unconjugated hyperbilirubinemia noted on several occasions; (2) normal results from CBC count, reticulocyte count, and blood smear; (3) normal liver function test results; and (4) an absence of other disease processes.”

 

The full text of the document (see reference section for URL) does list additional tests occasionally undertaken.

 

References

1) GP Notebook. Gilbert’s disease. (http://www.gpnotebook.co.uk/simplepage.cfm?ID=1516961833&linkID=5378&cook=yes)
2) eMedicine. Gilbert’s Syndrome. 2006 (http://www.emedicine.com/med/topic870.htm)
 

---

DISCLAIMER: TRIPanswers is a collection of clinical questions and answers.  Each provider will have their own methodology in answering questions and these are likely not to be as rigorous as systematic review.  If you have any doubt as to the implications of this contact the Q&A Service Provider for further information. This document is presented for information purposes only. This document cannot and should not be used as a basis of diagnosis or choice of treatment, and is in no way intended to replace professional medical care or attention by a qualified practitioner. TRIPanswers and TRIP Database Ltd are not responsible or liable for, directly or indirectly, ANY form of damage whatsoever resulting from the use/misuse of information contained in or implied by this document.  Also, ensure you have read the terms and conditions for using the site.