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Macrocytic anemia

MedGen UID:
1920
Concept ID:
C0002886
Disease or Syndrome
Synonyms: Anemia, Macrocytic; Anemias, Macrocytic; Macrocytic Anemia; Macrocytic Anemias
SNOMED CT: Macrocytic anemia (83414005)
 
HPO: HP:0001972
Monarch Initiative: MONDO:0002281

Definition

A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH). [from HPO]

Conditions with this feature

Metaphyseal chondrodysplasia, McKusick type
MedGen UID:
67398
Concept ID:
C0220748
Congenital Abnormality
The cartilage-hair hypoplasia – anauxetic dysplasia (CHH-AD) spectrum disorders are a continuum that includes the following phenotypes: Metaphyseal dysplasia without hypotrichosis (MDWH). Cartilage-hair hypoplasia (CHH). Anauxetic dysplasia (AD). CHH-AD spectrum disorders are characterized by severe disproportionate (short-limb) short stature that is usually recognized in the newborn, and occasionally prenatally because of the short extremities. Other findings include joint hypermobility, fine silky hair, immunodeficiency, anemia, increased risk for malignancy, gastrointestinal dysfunction, and impaired spermatogenesis. The most severe phenotype, AD, has the most pronounced skeletal phenotype, may be associated with atlantoaxial subluxation in the newborn, and may include cognitive deficiency. The clinical manifestations of the CHH-AD spectrum disorders are variable, even within the same family.
Transcobalamin II deficiency
MedGen UID:
137976
Concept ID:
C0342701
Disease or Syndrome
Transcobalamin II deficiency is an autosomal recessive disorder with onset in early infancy characterized by failure to thrive, megaloblastic anemia, and pancytopenia. Other features include methylmalonic aciduria, recurrent infections, and vomiting and diarrhea. Treatment with cobalamin results in clinical improvement, but the untreated disorder may result in mental retardation and neurologic abnormalities (summary by Haberle et al., 2009). Hall (1981) gave a clinically oriented review of congenital defects of vitamin B12 transport, and Frater-Schroder (1983) gave a genetically oriented review.
Neutrophil immunodeficiency syndrome
MedGen UID:
374920
Concept ID:
C1842398
Disease or Syndrome
Immunodeficiency-73A with defective neutrophil chemotaxis and leukocytosis (IMD73A) is an immunologic disorder characterized by onset of recurrent infections in early infancy. Affected infants have periumbilical erythema and later develop skin abscesses and invasive infections. Laboratory studies show leukocytosis, neutrophilia, decreased TRECs, and T-cell abnormalities. Neutrophils showed decreased chemotaxis associated with actin polymerization abnormalities, as well as variably impaired oxidative responses. Hematopoietic stem cell transplant may be curative (summary by Accetta et al., 2011; review by Lougaris et al., 2020). In a review of autosomal forms of chronic granulomatous disease (see 306400 for genetic heterogeneity of CGD), Roos et al. (2021) noted that patients with RAC2 mutations may manifest CGD-like symptoms due to defects in neutrophil NADPH oxidase activity.
Diamond-Blackfan anemia 3
MedGen UID:
387892
Concept ID:
C1857719
Disease or Syndrome
Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.
Celiac disease, susceptibility to, 1
MedGen UID:
395227
Concept ID:
C1859310
Finding
Celiac disease is a systemic autoimmune disease that can be associated with gastrointestinal findings (diarrhea, malabsorption, abdominal pain and distension, bloating, vomiting, and weight loss) and/or highly variable non-gastrointestinal findings (dermatitis herpetiformis, chronic fatigue, joint pain/inflammation, iron deficiency anemia, migraines, depression, attention-deficit disorder, epilepsy, osteoporosis/osteopenia, infertility and/or recurrent fetal loss, vitamin deficiencies, short stature, failure to thrive, delayed puberty, dental enamel defects, and autoimmune disorders). Classic celiac disease, characterized by mild to severe gastrointestinal symptoms, is less common than non-classic celiac disease, characterized by absence of gastrointestinal symptoms.
Triosephosphate isomerase deficiency
MedGen UID:
349893
Concept ID:
C1860808
Disease or Syndrome
Triosephosphate isomerase deficiency (TPID) is an autosomal recessive multisystem disorder characterized by congenital hemolytic anemia, and progressive neuromuscular dysfunction beginning in early childhood. Many patients die from respiratory failure in childhood. The neurologic syndrome is variable, but usually includes lower motor neuron dysfunction with hypotonia, muscle weakness and atrophy, and hyporeflexia. Some patients may show additional signs such as dystonic posturing and/or spasticity. Laboratory studies show intracellular accumulation of dihydroxyacetone phosphate (DHAP), particularly in red blood cells (summary by Fermo et al., 2010).
Diamond-Blackfan anemia 8
MedGen UID:
390817
Concept ID:
C2675511
Disease or Syndrome
Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.
Diamond-Blackfan anemia 7
MedGen UID:
436451
Concept ID:
C2675512
Disease or Syndrome
Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.
Diamond-Blackfan anemia 5
MedGen UID:
382705
Concept ID:
C2675859
Disease or Syndrome
Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.
Diamond-Blackfan anemia 4
MedGen UID:
393906
Concept ID:
C2675860
Disease or Syndrome
Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.
Diamond-Blackfan anemia 1
MedGen UID:
390966
Concept ID:
C2676137
Disease or Syndrome
Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.
Diamond-Blackfan anemia 10
MedGen UID:
412873
Concept ID:
C2750080
Disease or Syndrome
Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.
Diamond-Blackfan anemia 6
MedGen UID:
419918
Concept ID:
C2931850
Disease or Syndrome
Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.
Chromosome 15q25 deletion syndrome
MedGen UID:
481985
Concept ID:
C3280355
Disease or Syndrome
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
MedGen UID:
763770
Concept ID:
C3550856
Disease or Syndrome
XLANP is an X-linked recessive hematologic disorder characterized by early-onset anemia and bone marrow erythroid hypoplasia with variable neutropenia. Some patients may have low platelets or platelet abnormalities. The severity is variable. Some patients have shown a favorable response to corticosteroid treatment (summary by Hollanda et al., 2006 and Sankaran et al., 2012). In some cases, the disorder may resemble Diamond-Blackfan anemia (see, e.g., DBA1; 105650) (Sankaran et al., 2012; Parrella et al., 2014; Klar et al., 2014).
Infantile liver failure syndrome 1
MedGen UID:
815852
Concept ID:
C3809522
Disease or Syndrome
A rare, genetic, parenchymal hepatic disease characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate. Other associated features include hepatosteatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure.
Diamond-Blackfan anemia 12
MedGen UID:
816218
Concept ID:
C3809888
Disease or Syndrome
Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
MedGen UID:
816331
Concept ID:
C3810001
Disease or Syndrome
Combined oxidative phosphorylation deficiency-18 (COXPD18) is an autosomal recessive disorder of mitochondrial function characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis associated with decreased mitochondrial respiratory chain activity. Affected patients may also show hematologic abnormalities, mainly macrocytic anemia (summary by Hildick-Smith et al., 2013). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
MedGen UID:
902755
Concept ID:
C4225411
Disease or Syndrome
Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS28 gene.
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
MedGen UID:
895657
Concept ID:
C4225422
Disease or Syndrome
Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
MedGen UID:
1615364
Concept ID:
C4540434
Disease or Syndrome
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia is an inborn error of folate metabolism due to deficiency of methylenetetrahydrofolate dehydrogenase-1. Manifestations may include hemolytic uremic syndrome, macrocytosis, epilepsy, hearing loss, retinopathy, mild mental retardation, lymphopenia involving all subsets, and low T-cell receptor excision circles. Folinic acid supplementation is an effective treatment (summary by Ramakrishnan et al., 2016).
X-linked sideroblastic anemia 1
MedGen UID:
1638704
Concept ID:
C4551511
Disease or Syndrome
X-linked sideroblastic anemia is an inherited disorder that prevents developing red blood cells (erythroblasts) from making enough hemoglobin, which is the protein that carries oxygen in the blood. People with X-linked sideroblastic anemia have mature red blood cells that are smaller than normal (microcytic) and appear pale (hypochromic) because of the shortage of hemoglobin. This disorder also leads to an abnormal accumulation of iron in red blood cells. The iron-loaded erythroblasts, which are present in bone marrow, are called ring sideroblasts. These abnormal cells give the condition its name.\n\nThe signs and symptoms of X-linked sideroblastic anemia result from a combination of reduced hemoglobin and an overload of iron. They range from mild to severe and most often appear in young adulthood. Common features include fatigue, dizziness, a rapid heartbeat, pale skin, and an enlarged liver and spleen (hepatosplenomegaly). Over time, severe medical problems such as heart disease and liver damage (cirrhosis) can result from the buildup of excess iron in these organs.
VEXAS syndrome
MedGen UID:
1765785
Concept ID:
C5435753
Disease or Syndrome
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome) is an adult-onset inflammatory disease that primarily affects males and is caused by somatic, not germline, mutations. The disorder is characterized by adult onset of rheumatologic symptoms at a mean age of 64 years. Features include recurrent fevers, pulmonary and dermatologic inflammatory manifestations, vasculitis, deep vein thrombosis, arthralgias, and ear and nose chondritis. Laboratory studies indicate hematologic abnormalities, including macrocytic anemia, as well as increased levels of acute-phase reactants; about half of patients have positive autoantibodies. Bone marrow biopsy shows degenerative vacuolization restricted to myeloid and erythroid precursor cells, as well as variable hematopoietic dyspoiesis and dysplasias. The condition does not respond to rheumatologic medications and the features may result in premature death (summary by Beck et al., 2020).
Mitochondrial complex 4 deficiency, nuclear type 3
MedGen UID:
1764816
Concept ID:
C5436682
Disease or Syndrome
Mitochondrial complex IV deficiency nuclear type 3 (MC4DN3) is an autosomal recessive multisystem metabolic disorder with a highly variable phenotype. Some patients present with encephalomyopathic features in early infancy, whereas others may present later in infancy or the first years of life after normal early development. Affected individuals show hypotonia, failure to thrive, and developmental delay or regression with poor eye contact and loss of motor skills with ataxia. Additional features observed in some patients include proximal renal tubulopathy, macrocytic anemia, sensorineural hearing loss, nystagmus, and hypertrophic cardiomyopathy, consistent with systemic involvement. Brain imaging in most patients shows lesions consistent with Leigh syndrome (see 256000). Laboratory studies show increased serum lactate and decreased levels and activity of mitochondrial respiratory complex IV. Most patients die in infancy (summary by Valnot et al., 2000 and Antonicka et al., 2003). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.
Congenital dyserythropoietic anemia, type III
MedGen UID:
1801596
Concept ID:
C5676874
Disease or Syndrome
Congenital dyserythropoietic anemia type IIIa (CDAN3A) is a rare autosomal dominant hematologic disorder characterized by nonprogressive mild to moderate hemolytic anemia, macrocytosis in the peripheral blood, intravascular hemolysis, and giant multinucleated erythroblasts in the bone marrow. The disorder results from ineffective erythropoiesis. Laboratory studies show evidence of intravascular hemolysis, including increased thymidine kinase, lactate dehydrogenase, and/or undetectable haptoglobin (summary by Lind et al., 1995; Liljeholm et al., 2013). For a discussion of genetic heterogeneity of congenital dyserythropoietic anemia, see 224120.
Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive
MedGen UID:
1800829
Concept ID:
C5676940
Disease or Syndrome
Congenital dyserythropoietic anemia type IIIb (CDAN3B) is an autosomal recessive disorder characterized macrocytic anemia, aberrant giant multinucleated erythroblasts in the bone marrow, and skull defects secondary to severe anemia with ineffective erythropoiesis (summary by Hernandez et al., 2023). For a general description and a discussion of genetic heterogeneity of CDA, see CDAN1 (224120).
Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss
MedGen UID:
1824002
Concept ID:
C5774229
Disease or Syndrome
Birk-Aharoni syndrome (BKAH) is a severe neurodevelopmental disorder characterized developmental delay, impaired intellectual development, absent speech, spastic tetraplegia with central hypotonia, chorea, inability to walk, hearing loss, micropenis, undescended testes, and mildly elevated liver enzymes (Aharoni et al., 2022).

Professional guidelines

PubMed

Chandra J, Dewan P, Kumar P, Mahajan A, Singh P, Dhingra B, Radhakrishnan N, Sharma R, Manglani M, Rawat AK, Gupta P, Gomber S, Bhat S, Gaikwad P, Elizabeth KE, Bansal D, Dubey AP, Shah N, Kini P, Trehan A, Datta K, Basavraja GV, Saxena V, Kumar RR
Indian Pediatr 2022 Oct 15;59(10):782-801. PMID: 36263494
Shah SC, Piazuelo MB, Kuipers EJ, Li D
Gastroenterology 2021 Oct;161(4):1325-1332.e7. Epub 2021 Aug 26 doi: 10.1053/j.gastro.2021.06.078. PMID: 34454714Free PMC Article
Phillips J, Henderson AC
Am Fam Physician 2018 Sep 15;98(6):354-361. PMID: 30215915

Recent clinical studies

Etiology

Shah SC, Piazuelo MB, Kuipers EJ, Li D
Gastroenterology 2021 Oct;161(4):1325-1332.e7. Epub 2021 Aug 26 doi: 10.1053/j.gastro.2021.06.078. PMID: 34454714Free PMC Article
Lanier JB, Park JJ, Callahan RC
Am Fam Physician 2018 Oct 1;98(7):437-442. PMID: 30252420
Wang M
Am Fam Physician 2016 Feb 15;93(4):270-8. PMID: 26926814
Janus J, Moerschel SK
Am Fam Physician 2010 Jun 15;81(12):1462-71. PMID: 20540485
Kaferle J, Strzoda CE
Am Fam Physician 2009 Feb 1;79(3):203-8. PMID: 19202968

Diagnosis

Htut TW, Thein KZ, Oo TH
J Evid Based Med 2021 May;14(2):161-169. Epub 2021 May 20 doi: 10.1111/jebm.12435. PMID: 34015185
Lanier JB, Park JJ, Callahan RC
Am Fam Physician 2018 Oct 1;98(7):437-442. PMID: 30252420
Phillips J, Henderson AC
Am Fam Physician 2018 Sep 15;98(6):354-361. PMID: 30215915
Wang M
Am Fam Physician 2016 Feb 15;93(4):270-8. PMID: 26926814
Oh R, Brown DL
Am Fam Physician 2003 Mar 1;67(5):979-86. PMID: 12643357

Therapy

Chandra J, Dewan P, Kumar P, Mahajan A, Singh P, Dhingra B, Radhakrishnan N, Sharma R, Manglani M, Rawat AK, Gupta P, Gomber S, Bhat S, Gaikwad P, Elizabeth KE, Bansal D, Dubey AP, Shah N, Kini P, Trehan A, Datta K, Basavraja GV, Saxena V, Kumar RR
Indian Pediatr 2022 Oct 15;59(10):782-801. PMID: 36263494
Lanier JB, Park JJ, Callahan RC
Am Fam Physician 2018 Oct 1;98(7):437-442. PMID: 30252420
Janus J, Moerschel SK
Am Fam Physician 2010 Jun 15;81(12):1462-71. PMID: 20540485
Kaferle J, Strzoda CE
Am Fam Physician 2009 Feb 1;79(3):203-8. PMID: 19202968
Oh R, Brown DL
Am Fam Physician 2003 Mar 1;67(5):979-86. PMID: 12643357

Prognosis

Shah SC, Piazuelo MB, Kuipers EJ, Li D
Gastroenterology 2021 Oct;161(4):1325-1332.e7. Epub 2021 Aug 26 doi: 10.1053/j.gastro.2021.06.078. PMID: 34454714Free PMC Article
Obiorah IE, Patel BA, Groarke EM, Wang W, Trick M, Ombrello AK, Ferrada MA, Wu Z, Gutierrez-Rodrigues F, Lotter J, Wilson L, Hoffmann P, Cardona DO, Patel N, Dulau-Florea A, Kastner DL, Grayson PC, Beck DB, Young NS, Calvo KR
Blood Adv 2021 Aug 24;5(16):3203-3215. doi: 10.1182/bloodadvances.2021004976. PMID: 34427584Free PMC Article
Kujovich JL
Obstet Gynecol Clin North Am 2016 Jun;43(2):247-64. Epub 2016 Mar 18 doi: 10.1016/j.ogc.2016.01.009. PMID: 27212091
Kaferle J, Strzoda CE
Am Fam Physician 2009 Feb 1;79(3):203-8. PMID: 19202968
Van den Berghe H, Vermaelen K, Mecucci C, Barbieri D, Tricot G
Cancer Genet Cytogenet 1985 Jul;17(3):189-255. doi: 10.1016/0165-4608(85)90016-0. PMID: 3891074

Clinical prediction guides

Chandra J, Dewan P, Kumar P, Mahajan A, Singh P, Dhingra B, Radhakrishnan N, Sharma R, Manglani M, Rawat AK, Gupta P, Gomber S, Bhat S, Gaikwad P, Elizabeth KE, Bansal D, Dubey AP, Shah N, Kini P, Trehan A, Datta K, Basavraja GV, Saxena V, Kumar RR
Indian Pediatr 2022 Oct 15;59(10):782-801. PMID: 36263494
Shah SC, Piazuelo MB, Kuipers EJ, Li D
Gastroenterology 2021 Oct;161(4):1325-1332.e7. Epub 2021 Aug 26 doi: 10.1053/j.gastro.2021.06.078. PMID: 34454714Free PMC Article
Ferrada MA, Sikora KA, Luo Y, Wells KV, Patel B, Groarke EM, Ospina Cardona D, Rominger E, Hoffmann P, Le MT, Deng Z, Quinn KA, Rose E, Tsai WL, Wigerblad G, Goodspeed W, Jones A, Wilson L, Schnappauf O, Laird RS, Kim J, Allen C, Sirajuddin A, Chen M, Gadina M, Calvo KR, Kaplan MJ, Colbert RA, Aksentijevich I, Young NS, Savic S, Kastner DL, Ombrello AK, Beck DB, Grayson PC
Arthritis Rheumatol 2021 Oct;73(10):1886-1895. Epub 2021 Aug 31 doi: 10.1002/art.41743. PMID: 33779074
Kujovich JL
Obstet Gynecol Clin North Am 2016 Jun;43(2):247-64. Epub 2016 Mar 18 doi: 10.1016/j.ogc.2016.01.009. PMID: 27212091
Kaferle J, Strzoda CE
Am Fam Physician 2009 Feb 1;79(3):203-8. PMID: 19202968

Recent systematic reviews

Lian XY, Zhang ZH, Deng ZQ, He PF, Yao DM, Xu ZJ, Wen XM, Yang L, Lin J, Qian J
PLoS One 2016;11(11):e0165948. Epub 2016 Nov 8 doi: 10.1371/journal.pone.0165948. PMID: 27824902Free PMC Article

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