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Fat malabsorption

MedGen UID:
108215
Concept ID:
C0554103
Pathologic Function
Synonym: Intestinal malabsorption of fat
SNOMED CT: Intestinal malabsorption of fat (197494007)
 
HPO: HP:0002630

Definition

Abnormality of the absorption of fat from the gastrointestinal tract. [from HPO]

Conditions with this feature

Abetalipoproteinaemia
MedGen UID:
1253
Concept ID:
C0000744
Disease or Syndrome
Abetalipoproteinemia typically presents in infancy with failure to thrive, diarrhea, vomiting, and malabsorption of fat. Hematologic manifestations may include acanthocytosis (irregularly spiculated erythrocytes), anemia, reticulocytosis, and hemolysis with resultant hyperbilirubinemia. Malabsorption of fat-soluble vitamins (A, D, E, and K) can result in an increased international normalized ratio (INR). Untreated individuals may develop atypical pigmentation of the retina that may present with progressive loss of night vision and/or color vision in adulthood. Neuromuscular findings in untreated individuals including progressive loss of deep tendon reflexes, vibratory sense, and proprioception; muscle weakness; dysarthria; and ataxia typically manifest in the first or second decades of life.
Congenital bile acid synthesis defect 1
MedGen UID:
335883
Concept ID:
C1843116
Disease or Syndrome
Congenital defects of bile acid synthesis are autosomal recessive disorders characterized by neonatal onset of progressive liver disease with cholestatic jaundice and malabsorption of lipids and lipid-soluble vitamins from the gastrointestinal tract resulting from a primary failure to synthesize bile acids. Affected infants show failure to thrive and secondary coagulopathy. In most forms of the disorder, there is a favorable response to oral bile acid therapy (summary by Cheng et al., 2003). Genetic Heterogeneity of Congenital Defects in Bile Acid Synthesis There are several disorders that result from defects in bile acid synthesis. See CBAS2 (235555), caused by mutation in the delta(4)-3-oxosteroid 5-beta-reductase gene (AKR1D1; 604741) on chromosome 7q33; CBAS3 (613812), caused by mutation in the 7-alpha hydroxylase gene (CYP7B1; 603711) on chromosome 8q12; CBAS4 (214950), caused by mutation in the AMACR gene (604489) on chromosome 5p13; CBAS5 (616278), caused by mutation in the ABCD3 gene (170995) on chromosome 1p21; and CBAS6 (617308), caused by mutation in the ACOX2 gene (601641) on chromosome 3p14. See also progressive familial intrahepatic cholestasis (PFIC1; 211600), which has a similar phenotype.
Deafness-small bowel diverticulosis-neuropathy syndrome
MedGen UID:
347426
Concept ID:
C1857338
Disease or Syndrome
Syndrome with characteristics of progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities (progressive loss of gastric motility, small bowel diverticulosis). It has been described in five patients (three sisters in a family and two sisters born to consanguineous parents). This syndrome is transmitted as an autosomal recessive trait.
Congenital bile acid synthesis defect 4
MedGen UID:
388039
Concept ID:
C1858328
Disease or Syndrome
Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.
Pancreatic triacylglycerol lipase deficiency
MedGen UID:
482157
Concept ID:
C3280527
Disease or Syndrome
Congenital pancreatic lipase deficiency is a rare, monoenzymatic form of exocrine pancreatic failure. All reported patients have presented with similar symptoms and clinical findings, including oily/greasy stools from infancy or early childhood and the absence of discernible pancreatic disease. Failure to thrive has not been observed. Analyses of duodenal contents consistently show a marked decrease of pancreatic lipolytic activity (summary by Figarella et al., 1980).
Progressive familial intrahepatic cholestasis type 2
MedGen UID:
483742
Concept ID:
C3489789
Disease or Syndrome
The phenotypic spectrum of ATP8B1 deficiency ranges from severe through moderate to mild. Severe ATP8B1 deficiency is characterized by infantile-onset cholestasis that progresses to cirrhosis, hepatic failure, and early death. Although mild-to-moderate ATP8B1 deficiency initially was thought to involve intermittent symptomatic cholestasis with a lack of hepatic fibrosis, it is now known that hepatic fibrosis may be present early in the disease course. Furthermore, in some persons with ATP8B1 deficiency the clinical findings can span the phenotypic spectrum, shifting over time from the mild end of the spectrum (episodic cholestasis) to the severe end of the spectrum (persistent cholestasis). Sensorineural hearing loss (SNHL) is common across the phenotypic spectrum.
Progressive familial intrahepatic cholestasis type 1
MedGen UID:
1645830
Concept ID:
C4551898
Disease or Syndrome
The phenotypic spectrum of ATP8B1 deficiency ranges from severe through moderate to mild. Severe ATP8B1 deficiency is characterized by infantile-onset cholestasis that progresses to cirrhosis, hepatic failure, and early death. Although mild-to-moderate ATP8B1 deficiency initially was thought to involve intermittent symptomatic cholestasis with a lack of hepatic fibrosis, it is now known that hepatic fibrosis may be present early in the disease course. Furthermore, in some persons with ATP8B1 deficiency the clinical findings can span the phenotypic spectrum, shifting over time from the mild end of the spectrum (episodic cholestasis) to the severe end of the spectrum (persistent cholestasis). Sensorineural hearing loss (SNHL) is common across the phenotypic spectrum.
Hypercholanemia, familial 1
MedGen UID:
1781366
Concept ID:
C5542604
Disease or Syndrome
Familial hypercholanemia-1 (FHCA1) is an autosomal recessive disorder characterized by elevated concentrations of bile acids (usually conjugated), itching, and fat malabsorption, leading to poor overall growth and deficiencies of fat-soluble vitamins. Vitamin D deficiency results in rickets, and vitamin K deficiency results in a coagulopathy (Morton et al., 2000; Shneider et al., 1997; summary by Carlton et al., 2003). See also bile acid conjugation defect-1 (BACD1; 619232), which can also show increased bile acid levels, although the bile acids in BACD1 are unconjugated. Genetic Heterogeneity of FHCA See FHCA2 (619256), caused by mutation in the SLC10A1 gene (182396) on chromosome 14q24.
Bile acid malabsorption, primary, 1
MedGen UID:
1794144
Concept ID:
C5561934
Disease or Syndrome
Primary bile acid malabsorption (PBAM) is an intestinal disorder associated with chronic watery diarrhea, excess fecal bile acids, and steatorrhea. Bile acid malabsorption has been classified into 3 main types depending on the etiology. Types 1 and 3 are secondary disorders: type 1 is due to ileal dysfunction resulting from Crohn disease or ileal resection, and type 3 is secondary to other conditions, including cholecystectomy, post-vagotomy, celiac disease, and pancreatic insufficiency. Type 2 bile acid malabsorption is a primary congenital disorder, including the rare type due to mutations in the SLC10A2 gene (review by Pattni and Walters, 2009). Genetic Heterogeneity of Primary Bile Acid Malabsorption Also see PBAM2 (619481), caused by mutation in the SLC51B gene (612085).

Professional guidelines

PubMed

Demoulin N, Aydin S, Gillion V, Morelle J, Jadoul M
Am J Kidney Dis 2022 May;79(5):717-727. Epub 2021 Sep 9 doi: 10.1053/j.ajkd.2021.07.018. PMID: 34508834
Chen HL, Wu SH, Hsu SH, Liou BY, Chen HL, Chang MH
J Biomed Sci 2018 Oct 26;25(1):75. doi: 10.1186/s12929-018-0475-8. PMID: 30367658Free PMC Article
Asplin JR
Urolithiasis 2016 Feb;44(1):33-43. Epub 2015 Dec 8 doi: 10.1007/s00240-015-0846-5. PMID: 26645872

Recent clinical studies

Etiology

Kappus MR
Nutr Clin Pract 2020 Feb;35(1):30-35. Epub 2019 Dec 23 doi: 10.1002/ncp.10462. PMID: 31872503
Castellani C, Assael BM
Cell Mol Life Sci 2017 Jan;74(1):129-140. Epub 2016 Oct 5 doi: 10.1007/s00018-016-2393-9. PMID: 27709245
Asplin JR
Urolithiasis 2016 Feb;44(1):33-43. Epub 2015 Dec 8 doi: 10.1007/s00240-015-0846-5. PMID: 26645872
DiMagno MJ, DiMagno EP
Curr Opin Gastroenterol 2013 Sep;29(5):531-6. doi: 10.1097/MOG.0b013e3283639370. PMID: 23852141Free PMC Article
Filippatos TD, Derdemezis CS, Gazi IF, Nakou ES, Mikhailidis DP, Elisaf MS
Drug Saf 2008;31(1):53-65. doi: 10.2165/00002018-200831010-00005. PMID: 18095746

Diagnosis

Demoulin N, Aydin S, Gillion V, Morelle J, Jadoul M
Am J Kidney Dis 2022 May;79(5):717-727. Epub 2021 Sep 9 doi: 10.1053/j.ajkd.2021.07.018. PMID: 34508834
Chen HL, Wu SH, Hsu SH, Liou BY, Chen HL, Chang MH
J Biomed Sci 2018 Oct 26;25(1):75. doi: 10.1186/s12929-018-0475-8. PMID: 30367658Free PMC Article
Castellani C, Assael BM
Cell Mol Life Sci 2017 Jan;74(1):129-140. Epub 2016 Oct 5 doi: 10.1007/s00018-016-2393-9. PMID: 27709245
Nikaki K, Gupte GL
Best Pract Res Clin Gastroenterol 2016 Apr;30(2):225-35. Epub 2016 Mar 8 doi: 10.1016/j.bpg.2016.03.003. PMID: 27086887
DiMagno MJ, DiMagno EP
Curr Opin Gastroenterol 2013 Sep;29(5):531-6. doi: 10.1097/MOG.0b013e3283639370. PMID: 23852141Free PMC Article

Therapy

Kasotakis G, Whitmore C
Nutr Clin Pract 2024 Apr;39 Suppl 1:S29-S34. doi: 10.1002/ncp.11121. PMID: 38429961
Jodar E, Campusano C, de Jongh RT, Holick MF
Eur J Nutr 2023 Jun;62(4):1579-1597. Epub 2023 Mar 2 doi: 10.1007/s00394-023-03103-1. PMID: 36862209Free PMC Article
Berardesca E, Cameli N
Dermatol Ther 2021 Nov;34(6):e15160. Epub 2021 Oct 21 doi: 10.1111/dth.15160. PMID: 34655146
DiMagno MJ, DiMagno EP
Curr Opin Gastroenterol 2013 Sep;29(5):531-6. doi: 10.1097/MOG.0b013e3283639370. PMID: 23852141Free PMC Article
Filippatos TD, Derdemezis CS, Gazi IF, Nakou ES, Mikhailidis DP, Elisaf MS
Drug Saf 2008;31(1):53-65. doi: 10.2165/00002018-200831010-00005. PMID: 18095746

Prognosis

McDonald CM, Reid EK, Pohl JF, Yuzyuk TK, Padula LM, Vavrina K, Altman K
Nutr Clin Pract 2024 Apr;39 Suppl 1:S57-S77. doi: 10.1002/ncp.11122. PMID: 38429959
Jodar E, Campusano C, de Jongh RT, Holick MF
Eur J Nutr 2023 Jun;62(4):1579-1597. Epub 2023 Mar 2 doi: 10.1007/s00394-023-03103-1. PMID: 36862209Free PMC Article
Demoulin N, Aydin S, Gillion V, Morelle J, Jadoul M
Am J Kidney Dis 2022 May;79(5):717-727. Epub 2021 Sep 9 doi: 10.1053/j.ajkd.2021.07.018. PMID: 34508834
DiMagno MJ, DiMagno EP
Curr Opin Gastroenterol 2013 Sep;29(5):531-6. doi: 10.1097/MOG.0b013e3283639370. PMID: 23852141Free PMC Article
Laurin JM, Lindor KD
Dig Dis 1994 Nov-Dec;12(6):331-50. doi: 10.1159/000171469. PMID: 7712616

Clinical prediction guides

Jodar E, Campusano C, de Jongh RT, Holick MF
Eur J Nutr 2023 Jun;62(4):1579-1597. Epub 2023 Mar 2 doi: 10.1007/s00394-023-03103-1. PMID: 36862209Free PMC Article
Madden SK, Flanagan KL, Jones G
Clin Nutr 2020 Apr;39(4):1026-1040. Epub 2019 May 11 doi: 10.1016/j.clnu.2019.05.006. PMID: 31155371
DiMagno MJ, DiMagno EP
Curr Opin Gastroenterol 2013 Sep;29(5):531-6. doi: 10.1097/MOG.0b013e3283639370. PMID: 23852141Free PMC Article
Filippatos TD, Derdemezis CS, Gazi IF, Nakou ES, Mikhailidis DP, Elisaf MS
Drug Saf 2008;31(1):53-65. doi: 10.2165/00002018-200831010-00005. PMID: 18095746
Schonfeld G
Annu Rev Nutr 1995;15:23-34. doi: 10.1146/annurev.nu.15.070195.000323. PMID: 8527219

Recent systematic reviews

Witting C, Langman CB, Assimos D, Baum MA, Kausz A, Milliner D, Tasian G, Worcester E, Allain M, West M, Knauf F, Lieske JC
Clin J Am Soc Nephrol 2021 Mar 8;16(3):487-495. Epub 2020 Sep 8 doi: 10.2215/CJN.08000520. PMID: 32900691Free PMC Article
Mahawar KK, Sharples AJ
Obes Surg 2017 Aug;27(8):2194-2206. doi: 10.1007/s11695-017-2762-y. PMID: 28585108
Ng SM, Moore HS
Cochrane Database Syst Rev 2016 Aug 22;2016(8):CD003424. doi: 10.1002/14651858.CD003424.pub4. PMID: 27546383Free PMC Article
Ng SM, Francini AJ
Cochrane Database Syst Rev 2012 Apr 18;(4):CD003424. doi: 10.1002/14651858.CD003424.pub2. PMID: 22513912
Taylor JR, Gardner TB, Waljee AK, Dimagno MJ, Schoenfeld PS
Aliment Pharmacol Ther 2010 Jan;31(1):57-72. doi: 10.1111/j.1365-2036.2009.04157.x. PMID: 19804466

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