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Gilbert's syndrome

Gilbert's syndrome, often shortened to the acronym GS, is a genetic disorder of bilirubin metabolism, found in about 5% of the population. The main symptom is elevated bilirubin (hyperbilirubinamia) leading to otherwise harmless mild jaundice. Alternative, less common names for this disorder are as follows: more...

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  • Familial Benign Unconjugated Hyperbilirubinaemia
  • Constitutional Liver Dysfunction
  • Familial Non-Hemolytic-Non-Obstructive Jaundice
  • Icterus Intermittens Juvenilis
  • Low-Grade Chronic Hyperbilirubinemia
  • Unconjugated Benign Bilirubinemia

Signs and symptoms

The Gilbert's syndrome produces an elevated level of unconjugated bilirubin in the bloodstream but normally has no other effect. Rarely, mild jaundice may appear.

More controversially, some patients report fatigue and "brain fog" during episodes of high bilirubin levels. There is some evidence that Gilbert's syndrome also reduces the liver's ability to detoxify certain chemicals; it may be wise to avoid drugs that tax liver function, such as paracetamol.

Diagnosis

While this syndrome is considered harmless, it is clinically important because it may be confused with much more dangerous liver conditions. However, these will show other indicators of liver dysfunction. Haemolysis can be excluded by a full blood count and lactate dehydrogenase levels. Liver biopsy is rarely necessary. The onset of GS is often in childhood or early adulthood.

Normal levels of Total Bilirubin (conjugated and unconjugated) are under 20 mmol/dl.Patients with GS show only elevated unconjugated bilirubin, while conjugated is in normal ranges and forms less that 20% of the total. Levels of bilirubin in GS patients should be between 20 mmol/dl and 80 mmol/dl. It is proven that GS patients have a 30% slower Gluconuitril transferase rate than normal.

The level of Total Bilirubin is often increased if the blood sample is taken whilst fasted.

Gilbert's syndrome causes a 31% slower than normal rate of glucuronidation in the Phase II detoxification pathway of the liver. The phase II detoxification pathway of the liver deals with conjugation rather than the oxidation, reduction and hydrolysis of the phase I pathway.

More severe types of gluconitril transferase disorders like GS are Criggler-Najjar Syndrome Type I and Criggler-Najjar Syndrome Type II. Patients with type I disorder show no bilirubin detoxification and suffer from brain damage due to exessive bilirubin levels(both conjugated and unconjugated bilirubin are elevated). Infants with this disorder live not more than one year. There are cases of Criggler-Najjar Type I patients living twenty or thirty years.

It is arguable that GS is benign, due to many reported symptoms by GS patients.

Controversial Dietary Recommendations

No treatment is necessary for most individuals and Gilbert's syndrome is clinically defined as being without symptoms except for periodic mild jaundice.

Read more at Wikipedia.org


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Clinical quiz
From American Family Physician, 1/15/04

Clinical Quiz questions are based on selected articles in this issue. Answers appear in this issue.

American Family Physician has been approved by the American Academy of Family Physicians as having educational content acceptable for Prescribed credit. Term of approval covers issues published within one year from the beginning distribution date of January 2004. This issue has been reviewed and is acceptable for up to 3.5 Prescribed credits. One quarter of one credit conforms to AAFP criteria for evidence-based CME content. When reporting CME credits, AAFP members should report total Prescribed credits earned for this activity. It is not necessary for members to label credits as evidence-based or Prescribed for CME reporting purposes.

The American Academy of Family Physicians is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.

The AAFP designates this educational activity for a maximum of 3.5 Category 1 credits toward the American Medical Association Physician's Recognition Award. Each physician should claim only those credits that he or she actually spent in the activity.

AAFP Credit

Each copy of AFP contains a Clinical Quiz answer card. AAFP members may use this card to obtain the designated number of Prescribed credit hours for the year in which the card is postmarked.

AMA/PRA Category 1 Credit

AAFP members who satisfy the Academy's continuing medical education requirements are automatically eligible for the AMA/PRA.

Physicians who are not members of the AAFP are eligible to receive the designated number of credits in Category 1 of the AMA/PRA on completion and return of the Clinical Quiz answer card. AFP keeps a record of AMA/PRA Category 1 credits for nonmember physicians. This record will be provided on request; however, nonmembers are responsible for reporting their own Category 1 CME credits when applying for the AMA/PRA or other certificates or credentials.

For health care professionals who are not physicians and are AFP subscribers, a record of CME credit is kept by AAFP and will be provided to you on written request. You are responsible for reporting CME credits to your professional organization.

NOTE: The full text of AFP is available online (http://www.aafp.org/afp), including each issue's Clinical Quiz. The table of contents for each online issue will link you to the Clinical Quiz. Just follow the online directions to take the quiz and, if you're an AAFP member, you can submit your answers for CME credit.

Instructions

(1) Read each article, answer all questions on the quiz pages, and transfer your answers to the Clinical Quiz answer card (bound into your copy of AFP). This will help you avoid errors and permit you to check your answers against the correct answers.

(2) Mail the Clinical Quiz answer card within one year (by January 31, 2005). The bar code on the answer card contains your identification for CME credits.

Before beginning the test, please note:

Each Clinical Quiz includes two types of questions: Type A and Type X.

Type A questions have only one correct answer and may have four or five choices. Here is a typical Type A question:

Q1. Most allergic reactions to foods are:

[] A. Due to IgA deficiency.

[] B. Due to IgG and IgM antibodies.

[check] C. IgE-mediated.

[] D. Due to enzyme deficiencies.

[] E. Due to toxins.

Type X questions may have one or more correct answers. They are multiple true-false questions with four options. Here is a typical Type X question:

Q2. Causes of varicosities in pregnancy include:

[check] A. Hormonal changes.

[check] B. Venous compression.

[check] C. Familial tendency.

[check] D. Prolonged sitting and standing.

Clinical Quiz questions are written by the associate and assistant editors of AFP.

Type A Questions

Each question has only one correct answer.

Articles

Jaundice in the Adult Patient (p. 299)

Q1. Which one of the following is not a first-line test in the work-up of an adult patient with jaundice?

[] A. Alanine transaminase.

[] B. Alkaline phosphatase.

[] C. Complete blood count.

[] D. Aspartate transaminase.

[] E. Antimitochondrial antibody.

Q2. Which one of the following is not a cause of hemolytic anemia?

[] A. Drug reaction.

[] B. Gilbert's syndrome.

[] C. Abnormal hemoglobin (e.g., sickle cell disease).

[] D. Autoimmune disorder.

Facilitating Treatment Adherence with Lifestyle Changes in Diabetes (p. 309)

Q3. Which one of the following statements about the stages of lifestyle change in a patient with diabetes is correct?

[] A. If a patient is contemplating change, the goal of the office visit should emphasize moving toward preparing for change.

[] B. Patients in the preparation stage are moving toward thinking about change.

[] C. Patients in the precontemplation stage should be encouraged to make one to two lifestyle changes.

[] D. The contemplation stage involves discussing the obstacles to change and how to overcome them.

[] E. Most of the stages can be dealt with in one office visit.

Q4. Which one of the following is a specific outcome goal or short-term behavior target for diabetes prevention used in randomized controlled studies?

[] A. List of required physical activities.

[] B. Body mass index of less than 21 kg per m2.

[] C. 100 minutes of physical activity per week.

[] D. Exchange diet with individualized calorie goals.

[] E. 20 percent weight loss.

Treating Acute Bronchiolitis Associated with RSV (p. 325)

Q5. Nebulized epinephrine therapy administered to hospitalized children with bronchiolitis caused by respiratory syncytial virus has been shown to have which one of the following outcomes?

[] A. Clear, improved short-term results.

[] B. No significant reduction in the length of hospital stay.

[] C. A reduction in the length of time a child is ready for hospital discharge.

[] D. Improved long-term results if combined with ribavirin.

Hyperparathyroidism (p. 333)

Q6. Which one of the following is the leading cause of primary hyperparathyroidism?

[] A. A single parathyroid adenoma.

[] B. Multiple adenomas within the parathyroid glands.

[] C. Hypertrophy of all four parathyroid glands.

[] D. Parathyroid malignancy.

Q7. In patients with primary hyperparathyroidism, serum parathyroid hormone levels characteristically are which one of the following?

[] A. Normal.

[] B. Elevated.

[] C. Suppressed.

[] D. Variable, depending on the serum albumin level.

Q8. A patient has a total serum calcium level of 10 mg per dL (2.50 mmol per L) and an albumin level of 1.0 g per dL (10 g per L). What is the corrected total calcium concentration?

[] A. 10 mg per dL.

[] B. 11.6 mg per dL (2.90 mmol per L).

[] C. 12.4 mg per dL (3.10 mmol per L).

[] D. 13.2 mg per dL (3.30 mmol per L).

Pediculosis and Scabies (p. 341)

Q9. Which one of the following is the primary symptom of pediculosis?

[] A. Rash.

[] B. Secondary infection.

[] C. Itching.

[] D. Burning.

Q10. In scabies, which one of the following is more likely to occur in children younger than five years than in adults?

[] A. Lesions in a linear orientation.

[] B. Severe itching.

[] C. Involvement of the head and neck.

[] D. Excoriation of lesions.

U.S. Preventive Services Task Force: Recommendations and Rationale

Behavioral Interventions to Promote Breastfeeding (p. 354)

Q11. Of the following statements, which one best describes the U.S. Preventive Services Task Force (USPSTF) recommendations on behavioral interventions to promote breastfeeding?

[] A. The USPSTF found insufficient evidence to recommend for or against structured breastfeeding education and behavioral counseling programs to promote breastfeeding.

[] B. The USPSTF recommends structured breastfeeding education and behavioral counseling programs to promote breastfeeding.

[] C. The USPSTF recommends brief education counseling by primary care providers to promote breastfeeding.

[] D. The USPSTF recommends against structured breastfeeding education and behavioral counseling programs to promote breastfeeding.

[] E. The USPSTF recommends against brief education and counseling by primary care providers to promote breastfeeding.

Type X Questions

Each question has one or more correct answers.

Articles

Jaundice in the Adult Patient (p. 299)

Q12. Which of the following is/are advantages of ultrasonography (US) compared with computed tomography (CT) in the work-up of the adult patient with jaundice?

[] A. US has lower cost and wider availability than CT scanning.

[] B. US is more sensitive in detecting biliary stones.

[] C. US provides more information about liver and pancreatic parenchymal disease than CT scanning.

[] D. US involves no exposure to ionizing radiation.

Q13. Alcohol overuse can lead to jaundice by which of the following mechanisms?

[] A. Fatty liver.

[] B. Hepatitis.

[] C. Cirrhosis.

[] D. Pancreatitis.

Facilitating Treatment Adherence with Lifestyle Changes in Diabetes (p. 309)

Q14. Which of the following is/are skills needed to maintain lifestyle changes in patients with diabetes?

[] A. Relapse prevention by anticipating slips.

[] B. Coping and stress management.

[] C. Maintaining the same type of exercise every day.

[] D. Controlling and recognizing environmental cues for eating and physical activity.

Treating Acute Bronchiolitis Associated with RSV (p. 325)

Q15. High-risk infants who usually should be hospitalized for bronchiolitis caused by respiratory syncytial virus include which of the following?

[] A. Those who are less than three months of age.

[] B. Those whose gestational age at birth was less than 34 weeks.

[] C. Those with comorbid cardiopulmonary disease.

[] D. Those with immunodeficiency.

Pediculosis and Scabies (p. 341)

Q16. Which of the following agents is/are considered safe, effective, and least toxic in the treatment of pediculosis?

[] A. Piperonyl butoxide-pyrethrin (e.g., Rid, Pronto).

[] B. Permethrin, 1 percent (Nix).

[] C. Malathion (Ovide).

[] D. Lindane (Kwell).

Q1. Which of the following articles covered in this quiz provide information that you find useful? (On the answer card, please circle all that apply.)

[] A. Jaundice in the Adult Patient (p. 299).

[] B. Facilitating Treatment Adherence with Lifestyle Changes in Diabetes (p. 309).

[] C. Treating Acute Bronchiolitis Associated with RSV (p. 325).

[] D. Hyperparathyroidism (p. 333).

[] E. Pediculosis and Scabies (p. 341).

[] F. Behavioral Interventions to Promote Breastfeeding (p. 354).

Q2. In general, how clear was the presentation of the information in these articles? (On the answer card, please circle one number: 5 = extremely clear; 0 = extremely unclear.)

Q3. Thinking of all the issues of AFP that you've seen recently, please rate the overall quality of AFP as a vehicle for continuing medical education in the clinical aspects of practice. (On the answer card, please circle one number: 5 = excellent; 0 = poor.)

CME Quality Survey

Please answer the following questions to help us monitor the quality of AFP's CME material on an ongoing basis. Mark your answers on this issue's quiz card. We would appreciate hearing any suggestions you have for improving the CME experience offered through AFP. See the directory on page 241.

Answers to This Issue's Clinical Quiz

Q1. E

Q2. B

Q3. A

Q4. D

Q5. B

Q6. A

Q7. B

Q8. C

Q9. C

Q10. C

Q11. B

Q12. A,B,D

Q13. A,B,C,D

Q14. A,B,D

Q15. A,B,C,D

Q16. A,B

COPYRIGHT 2004 American Academy of Family Physicians
COPYRIGHT 2004 Gale Group

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