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Alcohol dependence

MedGen UID:
1801
Concept ID:
C0001973
Mental or Behavioral Dysfunction
Synonym: ALCOHOL DEPENDENCE, PROTECTION AGAINST
SNOMED CT: Alcohol dependence (66590003); Chronic alcoholism (66590003); Alcoholism (7200002); Persistent alcohol abuse (284591009); Chronic alcohol abuse (284591009); Alcohol dependence syndrome (66590003); Dipsomania (7200002); Alcohol problem drinking (7200002)
Modes of inheritance:
Multifactorial inheritance
MedGen UID:
109109
Concept ID:
C0600599
Genetic Function
Source: HPO
A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases.
 
Genes (locations): ADH1B (4q23); ADH1C (4q23); GABRA2 (4p12); HTR2A (13q14.2)
 
HPO: HP:0030955
OMIM®: 103780

Definition

Alcohol use disorder is a diagnosis made when an individual has severe problems related to drinking alcohol. Alcohol use disorder can cause major health, social, and economic problems, and can endanger affected individuals and others through behaviors prompted by impaired decision-making and lowered inhibitions, such as aggression, unprotected sex, or driving while intoxicated.\n\nAlcohol use disorder is a broad diagnosis that encompasses several commonly used terms describing problems with drinking. It includes alcoholism, also called alcohol addiction, which is a long-lasting (chronic) condition characterized by a powerful, compulsive urge to drink alcohol and the inability to stop drinking after starting. In addition to alcoholism, alcohol use disorder includes alcohol abuse, which involves problem drinking without addiction.\n\nHabitual excessive use of alcohol changes the chemistry of the brain and leads to tolerance, which means that over time the amount of alcohol ingested needs to be increased to achieve the same effect. Long-term excessive use of alcohol may also produce dependence, which means that when people stop drinking, they have physical and psychological symptoms of withdrawal, such as sleep problems, irritability, jumpiness, shakiness, restlessness, headache, nausea, sweating, anxiety, and depression. In severe cases, agitation, fever, seizures, and hallucinations can occur; this pattern of severe withdrawal symptoms is called delirium tremens.\n\nThe heavy drinking that often occurs in alcohol use disorder, and can also occur in short-term episodes called binge drinking, can lead to a life-threatening overdose known as alcohol poisoning. Alcohol poisoning occurs when a large quantity of alcohol consumed over a short time causes problems with breathing, heart rate, body temperature, and the gag reflex. Signs and symptoms can include vomiting, choking, confusion, slow or irregular breathing, pale or blue-tinged skin, seizures, a low body temperature, a toxic buildup of substances called ketones in the blood (alcoholic ketoacidosis), and passing out (unconsciousness). Coma, brain damage, and death can occur if alcohol poisoning is not treated immediately.\n\nChronic heavy alcohol use can also cause long-term problems affecting many organs and systems of the body. These health problems include irreversible liver disease (cirrhosis), inflammation of the pancreas (pancreatitis), brain dysfunction (encephalopathy), nerve damage (neuropathy), high blood pressure (hypertension), stroke, weakening of the heart muscle (cardiomyopathy), irregular heartbeats (arrhythmia), and immune system problems. Long-term overuse of alcohol also increases the risk of certain cancers, including cancers of the mouth, throat, esophagus, liver, and breast. Alcohol use in pregnant women can cause birth defects and fetal alcohol syndrome, which can lead to lifelong physical and behavioral problems in the affected child. [from MedlinePlus Genetics]

Clinical features

From HPO
Alcohol dependence
MedGen UID:
1801
Concept ID:
C0001973
Mental or Behavioral Dysfunction
Alcohol use disorder is a diagnosis made when an individual has severe problems related to drinking alcohol. Alcohol use disorder can cause major health, social, and economic problems, and can endanger affected individuals and others through behaviors prompted by impaired decision-making and lowered inhibitions, such as aggression, unprotected sex, or driving while intoxicated.\n\nAlcohol use disorder is a broad diagnosis that encompasses several commonly used terms describing problems with drinking. It includes alcoholism, also called alcohol addiction, which is a long-lasting (chronic) condition characterized by a powerful, compulsive urge to drink alcohol and the inability to stop drinking after starting. In addition to alcoholism, alcohol use disorder includes alcohol abuse, which involves problem drinking without addiction.\n\nHabitual excessive use of alcohol changes the chemistry of the brain and leads to tolerance, which means that over time the amount of alcohol ingested needs to be increased to achieve the same effect. Long-term excessive use of alcohol may also produce dependence, which means that when people stop drinking, they have physical and psychological symptoms of withdrawal, such as sleep problems, irritability, jumpiness, shakiness, restlessness, headache, nausea, sweating, anxiety, and depression. In severe cases, agitation, fever, seizures, and hallucinations can occur; this pattern of severe withdrawal symptoms is called delirium tremens.\n\nThe heavy drinking that often occurs in alcohol use disorder, and can also occur in short-term episodes called binge drinking, can lead to a life-threatening overdose known as alcohol poisoning. Alcohol poisoning occurs when a large quantity of alcohol consumed over a short time causes problems with breathing, heart rate, body temperature, and the gag reflex. Signs and symptoms can include vomiting, choking, confusion, slow or irregular breathing, pale or blue-tinged skin, seizures, a low body temperature, a toxic buildup of substances called ketones in the blood (alcoholic ketoacidosis), and passing out (unconsciousness). Coma, brain damage, and death can occur if alcohol poisoning is not treated immediately.\n\nChronic heavy alcohol use can also cause long-term problems affecting many organs and systems of the body. These health problems include irreversible liver disease (cirrhosis), inflammation of the pancreas (pancreatitis), brain dysfunction (encephalopathy), nerve damage (neuropathy), high blood pressure (hypertension), stroke, weakening of the heart muscle (cardiomyopathy), irregular heartbeats (arrhythmia), and immune system problems. Long-term overuse of alcohol also increases the risk of certain cancers, including cancers of the mouth, throat, esophagus, liver, and breast. Alcohol use in pregnant women can cause birth defects and fetal alcohol syndrome, which can lead to lifelong physical and behavioral problems in the affected child.

Conditions with this feature

Alcohol dependence
MedGen UID:
1801
Concept ID:
C0001973
Mental or Behavioral Dysfunction
Alcohol use disorder is a diagnosis made when an individual has severe problems related to drinking alcohol. Alcohol use disorder can cause major health, social, and economic problems, and can endanger affected individuals and others through behaviors prompted by impaired decision-making and lowered inhibitions, such as aggression, unprotected sex, or driving while intoxicated.\n\nAlcohol use disorder is a broad diagnosis that encompasses several commonly used terms describing problems with drinking. It includes alcoholism, also called alcohol addiction, which is a long-lasting (chronic) condition characterized by a powerful, compulsive urge to drink alcohol and the inability to stop drinking after starting. In addition to alcoholism, alcohol use disorder includes alcohol abuse, which involves problem drinking without addiction.\n\nHabitual excessive use of alcohol changes the chemistry of the brain and leads to tolerance, which means that over time the amount of alcohol ingested needs to be increased to achieve the same effect. Long-term excessive use of alcohol may also produce dependence, which means that when people stop drinking, they have physical and psychological symptoms of withdrawal, such as sleep problems, irritability, jumpiness, shakiness, restlessness, headache, nausea, sweating, anxiety, and depression. In severe cases, agitation, fever, seizures, and hallucinations can occur; this pattern of severe withdrawal symptoms is called delirium tremens.\n\nThe heavy drinking that often occurs in alcohol use disorder, and can also occur in short-term episodes called binge drinking, can lead to a life-threatening overdose known as alcohol poisoning. Alcohol poisoning occurs when a large quantity of alcohol consumed over a short time causes problems with breathing, heart rate, body temperature, and the gag reflex. Signs and symptoms can include vomiting, choking, confusion, slow or irregular breathing, pale or blue-tinged skin, seizures, a low body temperature, a toxic buildup of substances called ketones in the blood (alcoholic ketoacidosis), and passing out (unconsciousness). Coma, brain damage, and death can occur if alcohol poisoning is not treated immediately.\n\nChronic heavy alcohol use can also cause long-term problems affecting many organs and systems of the body. These health problems include irreversible liver disease (cirrhosis), inflammation of the pancreas (pancreatitis), brain dysfunction (encephalopathy), nerve damage (neuropathy), high blood pressure (hypertension), stroke, weakening of the heart muscle (cardiomyopathy), irregular heartbeats (arrhythmia), and immune system problems. Long-term overuse of alcohol also increases the risk of certain cancers, including cancers of the mouth, throat, esophagus, liver, and breast. Alcohol use in pregnant women can cause birth defects and fetal alcohol syndrome, which can lead to lifelong physical and behavioral problems in the affected child.
Porphyria cutanea tarda, type I
MedGen UID:
357391
Concept ID:
C1867968
Disease or Syndrome
De Verneuil et al. (1978) classified porphyria cutanea tarda (PCT), the most common type of porphyria, into 2 types: type I, or 'sporadic' type, associated with approximately 50% level of uroporphyrinogen decarboxylase (UROD; 613521) in liver (Elder et al., 1978; Felsher et al., 1982), and type II, or 'familial' type (176100), characterized by 50% deficient activity of the same enzyme in many tissues (Kushner et al., 1976; Elder et al., 1980). Type I is the most common form of PCT, comprising 70 to 80% of cases. The causes of the deficiency are often unclear and are probably multifactorial (review by Lambrecht et al., 2007).

Recent clinical studies

Etiology

Rossetti MG, Patalay P, Mackey S, Allen NB, Batalla A, Bellani M, Chye Y, Cousijn J, Goudriaan AE, Hester R, Hutchison K, Li CR, Martin-Santos R, Momenan R, Sinha R, Schmaal L, Sjoerds Z, Solowij N, Suo C, van Holst RJ, Veltman DJ, Yücel M, Thompson PM, Conrod P, Garavan H, Brambilla P, Lorenzetti V
Neuroimage Clin 2021;30:102636. Epub 2021 Mar 22 doi: 10.1016/j.nicl.2021.102636. PMID: 33857771Free PMC Article
Facal F, Flórez G, Blanco V, Rodríguez J, Pereiro C, Fernández JM, Fariñas E, Estévez V, Gómez-Trigo J, Gurriarán X, Sáiz P, Vázquez FL, Arrojo M, Costas J; GenPol Study Group.
Drug Alcohol Depend 2021 Apr 1;221:108556. Epub 2021 Jan 29 doi: 10.1016/j.drugalcdep.2021.108556. PMID: 33561667
Yoshimoto H, Nakamura I, Kojima Y
Alcohol 2020 Dec;89:147-156. Epub 2020 Oct 6 doi: 10.1016/j.alcohol.2020.09.005. PMID: 33035594
Subbie-Saenz de Viteri S, Pandey A, Pandey G, Kamarajan C, Smith R, Anokhin A, Bauer L, Bender A, Chan G, Dick D, Edenberg H, Kinreich S, Kramer J, Schuckit M, Zang Y, McCutcheon V, Bucholz K, Porjesz B, Meyers JL
Brain Behav 2020 Nov;10(11):e01789. Epub 2020 Sep 29 doi: 10.1002/brb3.1789. PMID: 32990406Free PMC Article
Witkiewitz K, Heather N, Falk DE, Litten RZ, Hasin DS, Kranzler HR, Mann KF, O'Malley SS, Anton RF
Addiction 2020 Sep;115(9):1668-1680. Epub 2020 Mar 10 doi: 10.1111/add.15011. PMID: 32056311Free PMC Article

Diagnosis

Facal F, Flórez G, Blanco V, Rodríguez J, Pereiro C, Fernández JM, Fariñas E, Estévez V, Gómez-Trigo J, Gurriarán X, Sáiz P, Vázquez FL, Arrojo M, Costas J; GenPol Study Group.
Drug Alcohol Depend 2021 Apr 1;221:108556. Epub 2021 Jan 29 doi: 10.1016/j.drugalcdep.2021.108556. PMID: 33561667
Witkiewitz K, Heather N, Falk DE, Litten RZ, Hasin DS, Kranzler HR, Mann KF, O'Malley SS, Anton RF
Addiction 2020 Sep;115(9):1668-1680. Epub 2020 Mar 10 doi: 10.1111/add.15011. PMID: 32056311Free PMC Article
Lenz B, Mühle C; Cohort Study on Substance Use Risk Factors., Kornhuber J
Addict Biol 2020 Jul;25(4):e12815. Epub 2019 Aug 16 doi: 10.1111/adb.12815. PMID: 31418510
Pinto-Filho JM, Ribeiro LSF, Sartori L, Dos Santos JN, Ramalho LMP, Cury PR
Environ Sci Pollut Res Int 2018 Oct;25(29):29089-29095. Epub 2018 Aug 15 doi: 10.1007/s11356-018-2807-3. PMID: 30112640
Cox S, Maurage P, O'Connor R, Chandler C, Riggs K
Drug Alcohol Depend 2018 Sep 1;190:42-45. Epub 2018 Jun 26 doi: 10.1016/j.drugalcdep.2018.05.025. PMID: 29966852

Therapy

Hyland K, Hammarberg A, Andreasson S, Jirwe M
Scand J Prim Health Care 2021 Jun;39(2):247-256. Epub 2021 Jun 21 doi: 10.1080/02813432.2021.1922834. PMID: 34151724Free PMC Article
Witkiewitz K, Heather N, Falk DE, Litten RZ, Hasin DS, Kranzler HR, Mann KF, O'Malley SS, Anton RF
Addiction 2020 Sep;115(9):1668-1680. Epub 2020 Mar 10 doi: 10.1111/add.15011. PMID: 32056311Free PMC Article
Nadkarni A, Velleman R, Bhatia U, Fernandes G, D'souza E, Murthy P
Alcohol 2020 Feb;82:103-112. Epub 2019 Aug 29 doi: 10.1016/j.alcohol.2019.08.006. PMID: 31473304
Quoilin C, Wilhelm E, Maurage P, de Timary P, Duque J
Neuropsychopharmacology 2018 Aug;43(9):1851-1858. Epub 2018 Apr 26 doi: 10.1038/s41386-018-0074-0. PMID: 29728650Free PMC Article
Agabio R, Trogu E, Pani PP
Cochrane Database Syst Rev 2018 Apr 24;4:CD008581. doi: 10.1002/14651858.CD008581.pub2. PMID: 29688573Free PMC Article

Prognosis

Rossetti MG, Patalay P, Mackey S, Allen NB, Batalla A, Bellani M, Chye Y, Cousijn J, Goudriaan AE, Hester R, Hutchison K, Li CR, Martin-Santos R, Momenan R, Sinha R, Schmaal L, Sjoerds Z, Solowij N, Suo C, van Holst RJ, Veltman DJ, Yücel M, Thompson PM, Conrod P, Garavan H, Brambilla P, Lorenzetti V
Neuroimage Clin 2021;30:102636. Epub 2021 Mar 22 doi: 10.1016/j.nicl.2021.102636. PMID: 33857771Free PMC Article
Hesselbrock MN, Hesselbrock VM, Chan G, Del Boca F, Chartier K
Alcohol Clin Exp Res 2020 Aug;44(8):1658-1665. Epub 2020 Jul 23 doi: 10.1111/acer.14398. PMID: 32701168Free PMC Article
Waldron M, Bucholz KK, Madden PAF, Heath AC
J Stud Alcohol Drugs 2020 Jan;81(1):74-80. PMID: 32048604Free PMC Article
Parker MA, Anthony JC
Exp Clin Psychopharmacol 2019 Feb;27(1):87-95. Epub 2018 Sep 27 doi: 10.1037/pha0000229. PMID: 30265064Free PMC Article
Grynberg D, de Timary P, Philippot P, D'Hondt F, Briane Y, Devynck F, Douilliez C, Billieux J, Heeren A, Maurage P
J Addict Dis 2016 Oct-Dec;35(4):238-243. Epub 2016 Jul 18 doi: 10.1080/10550887.2016.1207970. PMID: 27431454

Clinical prediction guides

Rossetti MG, Patalay P, Mackey S, Allen NB, Batalla A, Bellani M, Chye Y, Cousijn J, Goudriaan AE, Hester R, Hutchison K, Li CR, Martin-Santos R, Momenan R, Sinha R, Schmaal L, Sjoerds Z, Solowij N, Suo C, van Holst RJ, Veltman DJ, Yücel M, Thompson PM, Conrod P, Garavan H, Brambilla P, Lorenzetti V
Neuroimage Clin 2021;30:102636. Epub 2021 Mar 22 doi: 10.1016/j.nicl.2021.102636. PMID: 33857771Free PMC Article
Facal F, Flórez G, Blanco V, Rodríguez J, Pereiro C, Fernández JM, Fariñas E, Estévez V, Gómez-Trigo J, Gurriarán X, Sáiz P, Vázquez FL, Arrojo M, Costas J; GenPol Study Group.
Drug Alcohol Depend 2021 Apr 1;221:108556. Epub 2021 Jan 29 doi: 10.1016/j.drugalcdep.2021.108556. PMID: 33561667
Yoshimoto H, Nakamura I, Kojima Y
Alcohol 2020 Dec;89:147-156. Epub 2020 Oct 6 doi: 10.1016/j.alcohol.2020.09.005. PMID: 33035594
Thorberg FA, Young RM, Hasking P, Lyvers M, Connor JP, London ED, Huang YL, Feeney GFX
Subst Use Misuse 2019;54(14):2380-2386. Epub 2019 Aug 20 doi: 10.1080/10826084.2019.1650773. PMID: 31429362
Brion M, D'Hondt F, Pitel AL, Lecomte B, Ferauge M, de Timary P, Maurage P
Drug Alcohol Depend 2017 Aug 1;177:39-47. Epub 2017 May 19 doi: 10.1016/j.drugalcdep.2017.03.018. PMID: 28554151

Recent systematic reviews

Weatherall TJ, Conigrave KM, Conigrave JH, Lee KSK
Addict Sci Clin Pract 2020 Sep 17;15(1):32. doi: 10.1186/s13722-020-00205-7. PMID: 32943111Free PMC Article
Agabio R, Trogu E, Pani PP
Cochrane Database Syst Rev 2018 Apr 24;4:CD008581. doi: 10.1002/14651858.CD008581.pub2. PMID: 29688573Free PMC Article
Oo KZ, Aung YK, Jenkins MA, Win AK
Aust N Z J Psychiatry 2016 Sep;50(9):842-57. Epub 2016 Mar 15 doi: 10.1177/0004867416637920. PMID: 26979101
Levola J, Kaskela T, Holopainen A, Sabariego C, Tourunen J, Cieza A, Pitkänen T
Disabil Rehabil 2014;36(15):1227-39. Epub 2013 Sep 30 doi: 10.3109/09638288.2013.837104. PMID: 24079366
Aubin HJ, Daeppen JB
Drug Alcohol Depend 2013 Nov 1;133(1):15-29. Epub 2013 Jun 6 doi: 10.1016/j.drugalcdep.2013.04.025. PMID: 23746430

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