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{{CMG}} {{AE}}{{MA}} [mailto:malihash@bidmc.harvard.edu] [mailto:malihash@bidmc.harvard.edu]  
{{CMG}} {{AE}}{{MA}} [mailto:malihash@bidmc.harvard.edu] [mailto:malihash@bidmc.harvard.edu]  
== Overview ==
== Overview ==
* The page name should be '''"Diagnostic study of choice for [disease name]"''', with only the first letter of the title capitalized. Note that the page is called "Diagnostic study of choice."
[[Small bowel]] [[biopsy]] such as [[Jejunum|jejunal]] or [[Duodenum|duodenal]] [[biopsy]] is the [[Gold standard (test)|gold standard test]] for the diagnosis of lactose intolerance. Low [[lactase]] activity in small bowel [[biopsy]] is confirmatory of lactose intolerance.The [[diagnostic study of choice]] for lactose intolerance is lactose breath hydrogen test. Lactose intolerance is diagnosed based on a rise in [[hydrogen]] concentration of 20 ppm ( parts per million) and the presentation of symptoms such as [[bloating]], [[diarrhea]] and [[abdominal pain]].  
* '''Goal:'''
**To describe the most efficient/sensitive/specific test that is utilized for diagnosis of [disease name].
**To describe the gold standard test for the diagnosis of [disease name].
**To describe the diagnostic criteria, which may be based on clinical findings, physical exam signs, pathological findings, lab findings, findings on imaging, or even findings that exclude other diseases.
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== Diagnostic Study of Choice ==   
== Diagnostic Study of Choice ==   


=== Gold standard/Study of choice: ===
=== Gold standard/Study of choice: ===
{{Lactose intolerance}}
 
* [[Small bowel]] [[biopsy]] such as jujenal or deodenal [[biopsy]] is the [[Gold standard (test)|gold standard]] test for the diagnosis of lactose intolerance via investigation of [[lactase]] [[enzyme]] activity.<ref name="pmid228266392">{{cite journal |vauthors=Mattar R, de Campos Mazo DF, Carrilho FJ |title=Lactose intolerance: diagnosis, genetic, and clinical factors |journal=Clin Exp Gastroenterol |volume=5 |issue= |pages=113–21 |year=2012 |pmid=22826639 |pmc=3401057 |doi=10.2147/CEG.S32368 |url=}}</ref><ref name="pmid3140651">{{cite journal |vauthors=Scrimshaw NS, Murray EB |title=The acceptability of milk and milk products in populations with a high prevalence of lactose intolerance |journal=Am. J. Clin. Nutr. |volume=48 |issue=4 Suppl |pages=1079–159 |year=1988 |pmid=3140651 |doi= |url=}}</ref>
==== Small bowel biopsy ====
* [[Small bowel]] [[biopsy]] such as [[Jejunum|jejunal]] or [[Duodenum|duodenal]]  [[biopsy]] is the [[Gold standard (test)|gold standard test]] for the diagnosis of lactose intolerance via the investigation of [[lactase]] [[enzyme]] activity.<ref name="pmid228266392">{{cite journal |vauthors=Mattar R, de Campos Mazo DF, Carrilho FJ |title=Lactose intolerance: diagnosis, genetic, and clinical factors |journal=Clin Exp Gastroenterol |volume=5 |issue= |pages=113–21 |year=2012 |pmid=22826639 |pmc=3401057 |doi=10.2147/CEG.S32368 |url=}}</ref><ref name="pmid3140651">{{cite journal |vauthors=Scrimshaw NS, Murray EB |title=The acceptability of milk and milk products in populations with a high prevalence of lactose intolerance |journal=Am. J. Clin. Nutr. |volume=48 |issue=4 Suppl |pages=1079–159 |year=1988 |pmid=3140651 |doi= |url=}}</ref>
** Low [[lactase]] activity in small bowel [[biopsy]] is confirmatory of lactose intolerance.
** Low [[lactase]] activity in small bowel [[biopsy]] is confirmatory of lactose intolerance.
** Distinguishes between primary and secondary lactase deficiency by evaluation of [[small bowel]] [[histology]].
** Distinguishes between primary and secondary lactase deficiency by evaluation of [[small bowel]] [[histology]].
** Nowadays, [[small bowel]] [[Biopsy|biposy]] is rarely performed and it is substitued with noninvasive diagnostic tests such as lactose tolerance test and lactose breath hydrogen test.
** Nowadays, [[small bowel]] [[Biopsy|biposy]] is rarely performed and it is substitued with noninvasive diagnostic tests such as [[Lactose intolerance other diagnostic studies#Lactose intolerance test|lactose tolerance test]] and lactose breath hydrogen test.


* The [[diagnostic study of choice]] for lactose intolerance is lactose breath hydrogen test.<ref name="pmid20686460">{{cite journal |vauthors=Law D, Conklin J, Pimentel M |title=Lactose intolerance and the role of the lactose breath test |journal=Am. J. Gastroenterol. |volume=105 |issue=8 |pages=1726–8 |year=2010 |pmid=20686460 |doi=10.1038/ajg.2010.146 |url=}}</ref><ref name="pmid21860825">{{cite journal |vauthors=Ghoshal UC |title=How to interpret hydrogen breath tests |journal=J Neurogastroenterol Motil |volume=17 |issue=3 |pages=312–7 |year=2011 |pmid=21860825 |pmc=3155069 |doi=10.5056/jnm.2011.17.3.312 |url=}}</ref>
==== Lactose breath hydrogen test ====
** Noninvasive
* The [[diagnostic study of choice]] for lactose intolerance is lactose breath hydrogen test. Following are a few important aspects related to lactose breath hydrogen test:<ref name="pmid20686460">{{cite journal |vauthors=Law D, Conklin J, Pimentel M |title=Lactose intolerance and the role of the lactose breath test |journal=Am. J. Gastroenterol. |volume=105 |issue=8 |pages=1726–8 |year=2010 |pmid=20686460 |doi=10.1038/ajg.2010.146 |url=}}</ref><ref name="pmid21860825">{{cite journal |vauthors=Ghoshal UC |title=How to interpret hydrogen breath tests |journal=J Neurogastroenterol Motil |volume=17 |issue=3 |pages=312–7 |year=2011 |pmid=21860825 |pmc=3155069 |doi=10.5056/jnm.2011.17.3.312 |url=}}</ref>
** 50 g of [[lactose]] in water ( the equivalent of that in 1 L of milk) and 2 g/kg of lactose (maximum dose 25 g) in children in fasting state is administered<ref name="pmid31406512">{{cite journal |vauthors=Scrimshaw NS, Murray EB |title=The acceptability of milk and milk products in populations with a high prevalence of lactose intolerance |journal=Am. J. Clin. Nutr. |volume=48 |issue=4 Suppl |pages=1079–159 |year=1988 |pmid=3140651 |doi= |url=}}</ref>  
** It is a noninvasive investigation
** In adults, 50 g of [[lactose]] in water (equivalent to that in 1 L of milk), while in children, 2 g/kg of lactose (maximum dose 25 g) is administered in fasting state.<ref name="pmid31406512">{{cite journal |vauthors=Scrimshaw NS, Murray EB |title=The acceptability of milk and milk products in populations with a high prevalence of lactose intolerance |journal=Am. J. Clin. Nutr. |volume=48 |issue=4 Suppl |pages=1079–159 |year=1988 |pmid=3140651 |doi= |url=}}</ref>  
** Breath hydrogen level and associated symptoms such as [[bloating]], [[diarrhea]] and [[abdominal pain]] are checked at baseline and at 30 minute intervals for three hours.
** Lactose [[malabsorption]] and intolerance are diagnosed based on a rise in [[hydrogen]] concentration of 20 ppm (parts per million) and the presentation of symptoms compared to baseline.
** Undigested [[lactose]] is [[Fermentation|fermented]] by intestinal flora to [[carbon dioxide]], [[hydrogen]] and [[methane]] and then they are eliminated via the [[lung]]<nowiki/>s.
** Undigested [[lactose]] is [[Fermentation|fermented]] by intestinal flora to [[carbon dioxide]], [[hydrogen]] and [[methane]] and then they are eliminated via the [[lung]]<nowiki/>s.
** False negative result is due to:  
** False negative result is due to:  
*** Taking [[Antibiotic|antibiotics]] within previous one month
*** Taking [[Antibiotic|antibiotics]] within the previous month
*** Inhibition of bacterial activity by more [[acidic]] environment of [[Colon (anatomy)|colon]]   
*** Inhibition of bacterial activity by the more [[acidic]] environment of [[Colon (anatomy)|colon]]   
*** Underlying [[lung]] disease   
*** Underlying [[lung]] disease   
**False positive result
**False positive result
***[[Small bowel bacterial overgrowth syndrome|Small bowel bacterial overgrowth]]:
***[[Small bowel bacterial overgrowth syndrome|Small bowel bacterial overgrowth]]:
****Earlier rise in breath hydrogen level after ingestion of [[lactose]] ( less than  60 minutues )  
****Earlier rise in breath hydrogen level after the ingestion of [[lactose]] (less than  60 minutues)  
****Avoiding cigarette smoking and exercise 2 hours before lactose hydrogen test, because they cause [[hyperventilation]] and they can change [[accuracy]] of test<ref name="pmid16567886">{{cite journal |vauthors=Ghoshal UC, Ghoshal U, Das K, Misra A |title=Utility of hydrogen breath tests in diagnosis of small intestinal bacterial overgrowth in malabsorption syndrome and its relationship with oro-cecal transit time |journal=Indian J Gastroenterol |volume=25 |issue=1 |pages=6–10 |year=2006 |pmid=16567886 |doi= |url=}}</ref>  
****Avoiding cigarette smoking and exercise 2 hours before lactose hydrogen test, because they cause [[hyperventilation]] and they can change [[accuracy]] of the test.<ref name="pmid16567886">{{cite journal |vauthors=Ghoshal UC, Ghoshal U, Das K, Misra A |title=Utility of hydrogen breath tests in diagnosis of small intestinal bacterial overgrowth in malabsorption syndrome and its relationship with oro-cecal transit time |journal=Indian J Gastroenterol |volume=25 |issue=1 |pages=6–10 |year=2006 |pmid=16567886 |doi= |url=}}</ref>  
**Breath hydrogen level and associated symtoms such as [[bloating]], [[diarrhea]] and [[abdominal pain]] are checked at baseline and at 30 minute intervals for three hours
**Lactose [[malabsorption]] and intolerance are diagnosed based on a rise in [[hydrogen]] concentration of 20 ppm ( parts per million) and persentation of symptoms in compare to baseline


==== The comparison table for diagnostic studies of choice for lactose intolerance<ref name="pmid16761211">{{cite journal |vauthors=Kuokkanen M, Myllyniemi M, Vauhkonen M, Helske T, Kääriäinen I, Karesvuori S, Linnala A, Härkönen M, Järvelä I, Sipponen P |title=A biopsy-based quick test in the diagnosis of duodenal hypolactasia in upper gastrointestinal endoscopy |journal=Endoscopy |volume=38 |issue=7 |pages=708–12 |year=2006 |pmid=16761211 |doi=10.1055/s-2006-925354 |url=}}</ref><ref name="pmid22211845">{{cite journal |vauthors=Marton A, Xue X, Szilagyi A |title=Meta-analysis: the diagnostic accuracy of lactose breath hydrogen or lactose tolerance tests for predicting the North European lactase polymorphism C/T-13910 |journal=Aliment. Pharmacol. Ther. |volume=35 |issue=4 |pages=429–40 |year=2012 |pmid=22211845 |doi=10.1111/j.1365-2036.2011.04962.x |url=}}</ref><ref name="pmid22826639">{{cite journal |vauthors=Mattar R, de Campos Mazo DF, Carrilho FJ |title=Lactose intolerance: diagnosis, genetic, and clinical factors |journal=Clin Exp Gastroenterol |volume=5 |issue= |pages=113–21 |year=2012 |pmid=22826639 |pmc=3401057 |doi=10.2147/CEG.S32368 |url=}}</ref> ====
==== The comparison table for diagnostic studies of choice for lactose intolerance<ref name="pmid16761211">{{cite journal |vauthors=Kuokkanen M, Myllyniemi M, Vauhkonen M, Helske T, Kääriäinen I, Karesvuori S, Linnala A, Härkönen M, Järvelä I, Sipponen P |title=A biopsy-based quick test in the diagnosis of duodenal hypolactasia in upper gastrointestinal endoscopy |journal=Endoscopy |volume=38 |issue=7 |pages=708–12 |year=2006 |pmid=16761211 |doi=10.1055/s-2006-925354 |url=}}</ref><ref name="pmid22211845">{{cite journal |vauthors=Marton A, Xue X, Szilagyi A |title=Meta-analysis: the diagnostic accuracy of lactose breath hydrogen or lactose tolerance tests for predicting the North European lactase polymorphism C/T-13910 |journal=Aliment. Pharmacol. Ther. |volume=35 |issue=4 |pages=429–40 |year=2012 |pmid=22211845 |doi=10.1111/j.1365-2036.2011.04962.x |url=}}</ref><ref name="pmid22826639">{{cite journal |vauthors=Mattar R, de Campos Mazo DF, Carrilho FJ |title=Lactose intolerance: diagnosis, genetic, and clinical factors |journal=Clin Exp Gastroenterol |volume=5 |issue= |pages=113–21 |year=2012 |pmid=22826639 |pmc=3401057 |doi=10.2147/CEG.S32368 |url=}}</ref> ====
{|
{|
|- style="background: #4479BA; color: #FFFFFF; text-align: center;"
|- style="background: #4479BA; color: #FFFFFF; text-align: center;"
! style="background: #FFFFFF; color: #FFFFFF; text-align: center;" |
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Name of Investigation
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Sensitivity
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Sensitivity
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Specificity
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Specificity
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| style="background: #DCDCDC; padding: 5px; text-align: center;" |90
| style="background: #DCDCDC; padding: 5px; text-align: center;" |90
|-
|-
!Endoscopic duodenal biopsy
! style="background: #696969; color: #FFFFFF; text-align: center;" |Endoscopic duodenal biopsy
!95
| style="background: #DCDCDC; padding: 5px; text-align: center;" |95
!100
| style="background: #DCDCDC; padding: 5px; text-align: center;" |100
|-
! style="background: #696969; color: #FFFFFF; text-align: center;" |Lactose tolearance test
| style="background: #DCDCDC; padding: 5px; text-align: center;" |94
| style="background: #DCDCDC; padding: 5px; text-align: center;" |90
|-
|-
!Lactose tolearance test
!94
!90
|}
|}
<small> ✔= The best test based on the feature </small>
===== Diagnostic results =====
The following result of [investigation name] is confirmatory of [disease name]:
* Result 1
* Result 2
===== Sequence of Diagnostic Studies =====
The [name of investigation] should be performed when:
* The patient presented with symptoms/signs 1, 2, and 3 as the first step of diagnosis.
* A positive [test] is detected in the patient, to confirm the diagnosis.


=== Diagnostic Criteria ===
=== Diagnostic Criteria ===
* Here you should describe the details of the diagnostic criteria.
There are no established criteria for the diagnosis of lactose intolerance. However, investigations such as lactose breath hydrogen test and small bowel biopsy can be very helpful in the diagnosis of lactose intolerance.
*Always mention the name of the criteria/definition you are about to list (e.g. modified Duke criteria for diagnosis of endocarditis / 3rd universal definition of MI) and cite the primary source of where this criteria/definition is found.
*Although not necessary, it is recommended that you include the criteria in a table. Make sure you always cite the source of the content and whether the table has been adapted from another source.
*Be very clear as to the number of criteria (or threshold) that needs to be met out of the total number of criteria.
*Distinguish criteria based on their nature (e.g. clinical criteria / pathological criteria/ imaging criteria) before discussing them in details.
*To view an example (endocarditis diagnostic criteria), click [[Endocarditis diagnosis|here]]
*If relevant, add additional information that might help the reader distinguish various criteria or the evolution of criteria (e.g. original criteria vs. modified criteria).
*You may also add information about the sensitivity and specificity of the criteria, the pre-test probability, and other figures that may help the reader understand how valuable the criteria are clinically.
* [Disease name] is mainly diagnosed based on clinical presentation. There are no established criteria for the diagnosis of [disease name].
* There is no single diagnostic study of choice for [disease name], though [disease name] may be diagnosed based on [name of criteria] established by [...].
 
* The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met: [criterion 1], [criterion 2], [criterion 3], and [criterion 4].
* The diagnosis of [disease name] is based on the [criteria name] criteria, which includes [criterion 1], [criterion 2], and [criterion 3].
 
* [Disease name] may be diagnosed at any time if one or more of the following criteria are met:
** Criteria 1
** Criteria 2
** Criteria 3
 
IF there are clear, established diagnostic criteria:
*The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met: [criterion 1], [criterion 2], [criterion 3], and [criterion 4].
*The diagnosis of [disease name] is based on the [criteria name] criteria, which include [criterion 1], [criterion 2], and [criterion 3].
*The diagnosis of [disease name] is based on the [definition name] definition, which includes [criterion 1], [criterion 2], and [criterion 3].
IF there are no established diagnostic criteria: 
*There are no established criteria for the diagnosis of [disease name].
 
 
==References==
==References==
{{Reflist|2}}
{{Reflist|2}}
[[Category:Gastroenterology]]
[[Category:Medicine]]
[[Category:Up-To-Date]]

Latest revision as of 22:28, 29 July 2020

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Mahda Alihashemi M.D. [2] [3] [4]

Overview

Small bowel biopsy such as jejunal or duodenal biopsy is the gold standard test for the diagnosis of lactose intolerance. Low lactase activity in small bowel biopsy is confirmatory of lactose intolerance.The diagnostic study of choice for lactose intolerance is lactose breath hydrogen test. Lactose intolerance is diagnosed based on a rise in hydrogen concentration of 20 ppm ( parts per million) and the presentation of symptoms such as bloating, diarrhea and abdominal pain.

Diagnostic Study of Choice

Gold standard/Study of choice:

Small bowel biopsy

Lactose breath hydrogen test

  • The diagnostic study of choice for lactose intolerance is lactose breath hydrogen test. Following are a few important aspects related to lactose breath hydrogen test:[3][4]
    • It is a noninvasive investigation
    • In adults, 50 g of lactose in water (equivalent to that in 1 L of milk), while in children, 2 g/kg of lactose (maximum dose 25 g) is administered in fasting state.[5]
    • Breath hydrogen level and associated symptoms such as bloating, diarrhea and abdominal pain are checked at baseline and at 30 minute intervals for three hours.
    • Lactose malabsorption and intolerance are diagnosed based on a rise in hydrogen concentration of 20 ppm (parts per million) and the presentation of symptoms compared to baseline.
    • Undigested lactose is fermented by intestinal flora to carbon dioxide, hydrogen and methane and then they are eliminated via the lungs.
    • False negative result is due to:
      • Taking antibiotics within the previous month
      • Inhibition of bacterial activity by the more acidic environment of colon
      • Underlying lung disease
    • False positive result

The comparison table for diagnostic studies of choice for lactose intolerance[7][8][9]

Name of Investigation Sensitivity Specificity
 Lactose breath hydrogen test 88 85
Genetic test for primary lactase deficiency 88 90
Endoscopic duodenal biopsy 95 100
Lactose tolearance test 94 90

Diagnostic Criteria

There are no established criteria for the diagnosis of lactose intolerance. However, investigations such as lactose breath hydrogen test and small bowel biopsy can be very helpful in the diagnosis of lactose intolerance.

References

  1. ↑ Mattar R, de Campos Mazo DF, Carrilho FJ (2012). "Lactose intolerance: diagnosis, genetic, and clinical factors". Clin Exp Gastroenterol. 5: 113–21. doi:10.2147/CEG.S32368. PMC 3401057. PMID 22826639.
  2. ↑ Scrimshaw NS, Murray EB (1988). "The acceptability of milk and milk products in populations with a high prevalence of lactose intolerance". Am. J. Clin. Nutr. 48 (4 Suppl): 1079–159. PMID 3140651.
  3. ↑ Law D, Conklin J, Pimentel M (2010). "Lactose intolerance and the role of the lactose breath test". Am. J. Gastroenterol. 105 (8): 1726–8. doi:10.1038/ajg.2010.146. PMID 20686460.
  4. ↑ Ghoshal UC (2011). "How to interpret hydrogen breath tests". J Neurogastroenterol Motil. 17 (3): 312–7. doi:10.5056/jnm.2011.17.3.312. PMC 3155069. PMID 21860825.
  5. ↑ Scrimshaw NS, Murray EB (1988). "The acceptability of milk and milk products in populations with a high prevalence of lactose intolerance". Am. J. Clin. Nutr. 48 (4 Suppl): 1079–159. PMID 3140651.
  6. ↑ Ghoshal UC, Ghoshal U, Das K, Misra A (2006). "Utility of hydrogen breath tests in diagnosis of small intestinal bacterial overgrowth in malabsorption syndrome and its relationship with oro-cecal transit time". Indian J Gastroenterol. 25 (1): 6–10. PMID 16567886.
  7. ↑ Kuokkanen M, Myllyniemi M, Vauhkonen M, Helske T, Kääriäinen I, Karesvuori S, Linnala A, Härkönen M, Järvelä I, Sipponen P (2006). "A biopsy-based quick test in the diagnosis of duodenal hypolactasia in upper gastrointestinal endoscopy". Endoscopy. 38 (7): 708–12. doi:10.1055/s-2006-925354. PMID 16761211.
  8. ↑ Marton A, Xue X, Szilagyi A (2012). "Meta-analysis: the diagnostic accuracy of lactose breath hydrogen or lactose tolerance tests for predicting the North European lactase polymorphism C/T-13910". Aliment. Pharmacol. Ther. 35 (4): 429–40. doi:10.1111/j.1365-2036.2011.04962.x. PMID 22211845.
  9. ↑ Mattar R, de Campos Mazo DF, Carrilho FJ (2012). "Lactose intolerance: diagnosis, genetic, and clinical factors". Clin Exp Gastroenterol. 5: 113–21. doi:10.2147/CEG.S32368. PMC 3401057. PMID 22826639.
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