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Episodic abdominal pain

MedGen UID:
814352
Concept ID:
C3808022
Finding
Synonym: Abdominal pain, episodic
 
HPO: HP:0002574

Definition

An intermittent form of abdominal pain. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Episodic abdominal pain

Conditions with this feature

Hyperlipoproteinemia, type I
MedGen UID:
7352
Concept ID:
C0023817
Disease or Syndrome
Familial lipoprotein lipase (LPL) deficiency usually presents in childhood and is characterized by very severe hypertriglyceridemia with episodes of abdominal pain, recurrent acute pancreatitis, eruptive cutaneous xanthomata, and hepatosplenomegaly. Clearance of chylomicrons from the plasma is impaired, causing triglycerides to accumulate in plasma and the plasma to have a milky (lactescent or lipemic) appearance. Symptoms usually resolve with restriction of total dietary fat to =20 g/day.
Familial Mediterranean fever
MedGen UID:
45811
Concept ID:
C0031069
Disease or Syndrome
Familial Mediterranean fever (FMF) is divided into two phenotypes: type 1 and type 2. FMF type 1 is characterized by recurrent short episodes of inflammation and serositis including fever, peritonitis, synovitis, pleuritis, and, rarely, pericarditis and meningitis. The symptoms and severity vary among affected individuals, sometimes even among members of the same family. Amyloidosis, which can lead to renal failure, is the most severe complication, if untreated. FMF type 2 is characterized by amyloidosis as the first clinical manifestation of FMF in an otherwise asymptomatic individual.
Sandhoff disease
MedGen UID:
11313
Concept ID:
C0036161
Disease or Syndrome
Sandhoff disease comprises a phenotypic continuum encompassing acute infantile, subacute juvenile, and late-onset disease. Although classification into these phenotypes is somewhat arbitrary, it is helpful in understanding the variation observed in the timing of disease onset, presenting manifestations, rate of progression, and life span. Acute infantile Sandhoff disease (onset age <6 months). Infants are generally normal at birth followed by progressive weakness and slowing of developmental progress, then developmental regression and severe neurologic impairment. Seizures are common. Death usually occurs between ages two and three years. Subacute juvenile Sandhoff disease (onset age 2-5 years). After attaining normal developmental milestones, developmental progress slows, followed by developmental regression and neurologic impairment (abnormal gait, dysarthria, and cognitive decline). Death (usually from aspiration) typically occurs in the early to late teens. Late-onset Sandhoff disease (onset older teen years or young adulthood). Nearly normal psychomotor development is followed by a range of neurologic findings (e.g., weakness, spasticity, dysarthria, and deficits in cerebellar function) and psychiatric findings (e.g., deficits in executive function and memory). Life expectancy is not necessarily decreased.
Visceral neuropathy, familial, 1, autosomal recessive
MedGen UID:
340946
Concept ID:
C1855733
Disease or Syndrome
Autosomal recessive familial visceral neuropathy-1 (VSCN1) is characterized by a broad spectrum of developmental anomalies associating neural crest and extraneural crest features, including intestinal dysmotility due to aganglionosis (Hirschsprung disease), hypoganglionosis, and/or chronic intestinal pseudoobstruction. Some patients develop progressive peripheral neuropathy, and arthrogryposis has been observed. Hypoplasia or aplasia of the olfactory bulb and of the external auditory canals, as well as microtia or anotia, have been reported. Patients also exhibit facial dysmorphisms, including microretrognathia in most; other variable features include structural cardiac anomalies and arthrogryposis with multiple pterygia (Le et al., 2021). Genetic Heterogeneity of Familial Visceral Neuropathy Autosomal recessive familial visceral neuropathy-2 (VSCN2; 619465) is caused by mutation in the ERBB2 gene (164870) on chromosome 17q12. Also see VSCN3 (609629) for an autosomal dominant form of the disorder.
Hereditary angioedema type 3
MedGen UID:
346653
Concept ID:
C1857728
Disease or Syndrome
Hereditary angioedema is a disorder characterized by recurrent episodes of severe swelling (angioedema). The parts of the body that are most often affected by swelling are the limbs, face, intestinal tract, and airway. Minor trauma or stress may trigger an attack, but swelling often occurs without a known trigger. Episodes involving the intestinal tract cause severe abdominal pain, nausea, and vomiting. Swelling in the airway can restrict breathing and lead to life-threatening obstruction of the airway. About one-third of people with this condition develop a non-itchy rash called erythema marginatum during an attack.\n\nSymptoms of hereditary angioedema typically begin in childhood and worsen during puberty.  On average, untreated individuals have swelling episodes every 1 to 2 weeks, and most episodes last for about 3 to 4 days. The frequency and duration of attacks vary greatly among people with hereditary angioedema, even among people in the same family.\n\nHereditary angioedema is broadly divided into two types, which are distinguished by levels of a protein called C1 inhibitor (C1-INH) in the blood. These types are known as hereditary angioedema due to C1-INH deficiency and hereditary angioedema with normal C1-INH. \n\nHereditary angioedema due to C1-INH deficiency is further divided into two types: type I occurs when C1-INH levels are low, and type II occurs when the C1-INH protein is not functioning correctly. \n\nThe different types of hereditary angioedema have similar signs and symptoms. \n\n

Professional guidelines

PubMed

Frigas E, Nzeako UC
Clin Rev Allergy Immunol 2002 Oct;23(2):217-31. doi: 10.1385/CRIAI:23:2:217. PMID: 12221866
Russell G, Abu-Arafeh I, Symon DN
Paediatr Drugs 2002;4(1):1-8. doi: 10.2165/00128072-200204010-00001. PMID: 11817981

Recent clinical studies

Etiology

Turkmen K, Guclu A, Sahin G, Kocyigit I, Demirtas L, Erdur FM, Sengül E, Ozkan O, Emre H, Turgut F, Unal H, Karaman M, Acıkel C, Esen H, Balli E, Bıtırgen G, Tonbul HZ, Yılmaz MI, Ortiz A
Kidney Blood Press Res 2016;41(6):1016-1024. Epub 2016 Dec 23 doi: 10.1159/000452605. PMID: 28006774
Lamberts MP, Kievit W, Gerritsen JJ, Roukema JA, Westert GP, Drenth JP, van Laarhoven CJ
J Gastrointest Surg 2016 Jul;20(7):1350-8. Epub 2016 May 17 doi: 10.1007/s11605-016-3156-5. PMID: 27188580Free PMC Article
Solomon ML, Middleman AB
J Pediatr Adolesc Gynecol 2013 Jun;26(3):e77-9. Epub 2013 Mar 19 doi: 10.1016/j.jpag.2013.01.003. PMID: 23518359
Mergener K, Weinerth JL, Baillie J
Am J Gastroenterol 1997 Dec;92(12):2289-91. PMID: 9399772
Makridis C, Rastad J, Oberg K, Akerström G
World J Surg 1996 Sep;20(7):900-6; discussion 907. doi: 10.1007/s002689900137. PMID: 8678969

Diagnosis

Francis G, Baillie J
Curr Gastroenterol Rep 2011 Apr;13(2):188-92. doi: 10.1007/s11894-010-0172-6. PMID: 21222059
Cuvellier JC, Lépine A
Pediatr Neurol 2010 Jan;42(1):1-11. doi: 10.1016/j.pediatrneurol.2009.07.001. PMID: 20004856
Russell G, Abu-Arafeh I, Symon DN
Paediatr Drugs 2002;4(1):1-8. doi: 10.2165/00128072-200204010-00001. PMID: 11817981
Naylor AR
Scott Med J 1990 Dec;35(6):163-5. doi: 10.1177/003693309003500601. PMID: 2077646
Carmona RH, Crass RA, Lim RC Jr, Trunkey DD
Am J Surg 1984 Jul;148(1):117-24. doi: 10.1016/0002-9610(84)90298-8. PMID: 6377937

Therapy

Osataphan S, Augustynowicz A, Perrino C, Lam P
BMJ Case Rep 2021 May 31;14(5) doi: 10.1136/bcr-2021-242423. PMID: 34059546Free PMC Article
Bledsoe AC, Alexander GL
Gastroenterology 2019 Sep;157(3):e1-e3. Epub 2019 Apr 6 doi: 10.1053/j.gastro.2019.03.066. PMID: 30965030
Chaudhary A, Desai U, Joshi JM
Natl Med J India 2017 May-Jun;30(3):139-141. PMID: 28936998
Woodruff AE, Cieri NE, Abeles J, Seyse SJ
Ann Pharmacother 2013 Jun;47(6):e27. Epub 2013 May 14 doi: 10.1345/aph.1R620. PMID: 23673535
Russell G, Abu-Arafeh I, Symon DN
Paediatr Drugs 2002;4(1):1-8. doi: 10.2165/00128072-200204010-00001. PMID: 11817981

Prognosis

Figueroa-Diaz LC, Rodriguez-Ruiz FG, Betancourt-Torres M, Ojeda-Boscana IL, Lara JA
Am J Case Rep 2018 Oct 10;19:1208-1211. doi: 10.12659/AJCR.910223. PMID: 30301875Free PMC Article
Skeik N, Cooper LT, Duncan AA, Jabr FI
Vasc Endovascular Surg 2011 Jul;45(5):433-7. Epub 2011 May 2 doi: 10.1177/1538574411406453. PMID: 21536596
Francis G, Baillie J
Curr Gastroenterol Rep 2011 Apr;13(2):188-92. doi: 10.1007/s11894-010-0172-6. PMID: 21222059
Mergener K, Weinerth JL, Baillie J
Am J Gastroenterol 1997 Dec;92(12):2289-91. PMID: 9399772
Makridis C, Rastad J, Oberg K, Akerström G
World J Surg 1996 Sep;20(7):900-6; discussion 907. doi: 10.1007/s002689900137. PMID: 8678969

Clinical prediction guides

Richter B, Novik Y, Bergman JJ, Tomycz ND
World Neurosurg 2020 Jun;138:77-82. Epub 2020 Feb 24 doi: 10.1016/j.wneu.2020.02.075. PMID: 32105875
Skeik N, Cooper LT, Duncan AA, Jabr FI
Vasc Endovascular Surg 2011 Jul;45(5):433-7. Epub 2011 May 2 doi: 10.1177/1538574411406453. PMID: 21536596
Francis G, Baillie J
Curr Gastroenterol Rep 2011 Apr;13(2):188-92. doi: 10.1007/s11894-010-0172-6. PMID: 21222059
Durkalski V, Stewart W, MacDougall P, Mauldin P, Romagnuolo J, Brawman-Minzter O, Cotton P
World J Gastroenterol 2010 Sep 21;16(35):4416-21. doi: 10.3748/wjg.v16.i35.4416. PMID: 20845508Free PMC Article
Coteur G, Feagan B, Keininger DL, Kosinski M
Aliment Pharmacol Ther 2009 May 1;29(9):1032-41. doi: 10.1111/j.1365-2036.2009.03966.x. PMID: 19222413

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