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Abnormal circulating iron concentration

MedGen UID:
808235
Concept ID:
C0235760
Finding
Synonym: Abnormal serum iron
 
HPO: HP:0040130

Definition

The concentration of iron in the blood circulation is outside the limits of normal. [from HPO]

Conditions with this feature

Hereditary hyperferritinemia with congenital cataracts
MedGen UID:
318812
Concept ID:
C1833213
Disease or Syndrome
Hyperferritinemia-cataract syndrome is a disorder characterized by an excess of an iron storage protein called ferritin in the blood (hyperferritinemia) and tissues of the body. A buildup of this protein begins early in life, leading to clouding of the lenses of the eyes (cataracts). In affected individuals, cataracts usually develop in infancy, rather than after age 60 as typically occurs in the general population. Cataracts that are not removed surgically cause progressive dimming and blurriness of vision because the clouded lenses reduce and distort incoming light.\n\nAlthough the hyperferritinemia in this disorder does not usually cause any health problems other than cataracts, the elevated ferritin levels in the blood can be mistaken for a sign of certain liver disorders. These conditions result in excess iron in the body and may be treated by blood-drawing. However, individuals with hyperferritinemia-cataract syndrome do not have an excess of iron, and with repeated blood draws will develop reduced iron levels leading to a low number of red blood cells (anemia). Therefore, correct diagnosis of hyperferritinemia-cataract syndrome is important to avoid unnecessary treatments or invasive test procedures such as liver biopsies.

Professional guidelines

PubMed

Olofsson P
Am J Obstet Gynecol 2023 May;228(5S):S1222-S1240. Epub 2023 Mar 19 doi: 10.1016/j.ajog.2022.07.001. PMID: 37164495
Estcourt LJ, Fortin PM, Hopewell S, Trivella M, Wang WC
Cochrane Database Syst Rev 2017 Jan 17;1(1):CD003146. doi: 10.1002/14651858.CD003146.pub3. PMID: 28094851Free PMC Article
Pennell DJ, Udelson JE, Arai AE, Bozkurt B, Cohen AR, Galanello R, Hoffman TM, Kiernan MS, Lerakis S, Piga A, Porter JB, Walker JM, Wood J; American Heart Association Committee on Heart Failure and Transplantation of the Council on Clinical Cardiology and Council on Cardiovascular Radiology and Imaging
Circulation 2013 Jul 16;128(3):281-308. Epub 2013 Jun 17 doi: 10.1161/CIR.0b013e31829b2be6. PMID: 23775258

Recent clinical studies

Etiology

Olofsson P
Am J Obstet Gynecol 2023 May;228(5S):S1222-S1240. Epub 2023 Mar 19 doi: 10.1016/j.ajog.2022.07.001. PMID: 37164495
Adani G, Filippini T, Michalke B, Vinceti M
Neuroepidemiology 2020;54(1):1-23. Epub 2019 Aug 27 doi: 10.1159/000502357. PMID: 31454800
Pluta D, Franik G, Blukacz Ł, Kowalczyk K, Witkowska A, Wysocka M, Madej P
Eur Rev Med Pharmacol Sci 2018 Nov;22(21):7379-7384. doi: 10.26355/eurrev_201811_16276. PMID: 30468484
Nielsen VG, Pretorius E, Bester J, Jacobsen WK, Boyle PK, Reinhard JP
Curr Neurovasc Res 2015;12(1):31-9. doi: 10.2174/1567202612666150102150042. PMID: 25557378
Magann EF, Martin JN Jr
Obstet Gynecol Surv 1995 Feb;50(2):138-45. doi: 10.1097/00006254-199502000-00026. PMID: 7731626

Diagnosis

Olofsson P
Am J Obstet Gynecol 2023 May;228(5S):S1222-S1240. Epub 2023 Mar 19 doi: 10.1016/j.ajog.2022.07.001. PMID: 37164495
Tornai D, Antal-Szalmas P, Tornai T, Papp M, Tornai I, Sipeki N, Janka T, Balogh B, Vitalis Z
BMC Gastroenterol 2021 Mar 2;21(1):94. doi: 10.1186/s12876-021-01669-w. PMID: 33653274Free PMC Article
Medrano-Engay B, Irun P, Gervas-Arruga J, Andrade-Campos M, Andreu V, Alfonso P, Pocovi M, Giraldo P
Blood Cells Mol Dis 2014 Dec;53(4):171-5. Epub 2014 Aug 18 doi: 10.1016/j.bcmd.2014.07.007. PMID: 25153906
Magann EF, Martin JN Jr
Obstet Gynecol Surv 1995 Feb;50(2):138-45. doi: 10.1097/00006254-199502000-00026. PMID: 7731626
Swaiman KF
Arch Neurol 1991 Dec;48(12):1285-93. doi: 10.1001/archneur.1991.00530240091029. PMID: 1845035

Therapy

Remy KE, Cortés-Puch I, Solomon SB, Sun J, Pockros BM, Feng J, Lertora JJ, Hantgan RR, Liu X, Perlegas A, Warren HS, Gladwin MT, Kim-Shapiro DB, Klein HG, Natanson C
JCI Insight 2018 Sep 20;3(18) doi: 10.1172/jci.insight.123013. PMID: 30232287Free PMC Article
Estcourt LJ, Fortin PM, Hopewell S, Trivella M, Wang WC
Cochrane Database Syst Rev 2017 Jan 17;1(1):CD003146. doi: 10.1002/14651858.CD003146.pub3. PMID: 28094851Free PMC Article
Medrano-Engay B, Irun P, Gervas-Arruga J, Andrade-Campos M, Andreu V, Alfonso P, Pocovi M, Giraldo P
Blood Cells Mol Dis 2014 Dec;53(4):171-5. Epub 2014 Aug 18 doi: 10.1016/j.bcmd.2014.07.007. PMID: 25153906
Mansouri A, Lurie AA
Am J Hematol 1993 Jan;42(1):7-12. doi: 10.1002/ajh.2830420104. PMID: 8416301
Swaiman KF
Arch Neurol 1991 Dec;48(12):1285-93. doi: 10.1001/archneur.1991.00530240091029. PMID: 1845035

Prognosis

Tornai D, Antal-Szalmas P, Tornai T, Papp M, Tornai I, Sipeki N, Janka T, Balogh B, Vitalis Z
BMC Gastroenterol 2021 Mar 2;21(1):94. doi: 10.1186/s12876-021-01669-w. PMID: 33653274Free PMC Article
Calderón B, Gómez-Martín JM, Cuadrado-Ayuso M, Cobeta P, Vega-Piñero B, Mateo R, Galindo J, Botella-Carretero JI
Nutrients 2020 Oct 30;12(11) doi: 10.3390/nu12113354. PMID: 33143218Free PMC Article
Higgins V, Omidi A, Tahmasebi H, Asgari S, Gordanifar K, Nieuwesteeg M, Adeli K
J Clin Endocrinol Metab 2020 Apr 1;105(4):e1781-97. doi: 10.1210/clinem/dgz161. PMID: 31845996Free PMC Article
Medrano-Engay B, Irun P, Gervas-Arruga J, Andrade-Campos M, Andreu V, Alfonso P, Pocovi M, Giraldo P
Blood Cells Mol Dis 2014 Dec;53(4):171-5. Epub 2014 Aug 18 doi: 10.1016/j.bcmd.2014.07.007. PMID: 25153906
Magann EF, Martin JN Jr
Obstet Gynecol Surv 1995 Feb;50(2):138-45. doi: 10.1097/00006254-199502000-00026. PMID: 7731626

Clinical prediction guides

Olofsson P
Am J Obstet Gynecol 2023 May;228(5S):S1222-S1240. Epub 2023 Mar 19 doi: 10.1016/j.ajog.2022.07.001. PMID: 37164495
Tornai D, Antal-Szalmas P, Tornai T, Papp M, Tornai I, Sipeki N, Janka T, Balogh B, Vitalis Z
BMC Gastroenterol 2021 Mar 2;21(1):94. doi: 10.1186/s12876-021-01669-w. PMID: 33653274Free PMC Article
Remy KE, Cortés-Puch I, Solomon SB, Sun J, Pockros BM, Feng J, Lertora JJ, Hantgan RR, Liu X, Perlegas A, Warren HS, Gladwin MT, Kim-Shapiro DB, Klein HG, Natanson C
JCI Insight 2018 Sep 20;3(18) doi: 10.1172/jci.insight.123013. PMID: 30232287Free PMC Article
Kovac S, Smith K, Anderson GJ, Burgess JR, Shulkes A, Baldwin GS
Am J Physiol Gastrointest Liver Physiol 2008 Oct;295(4):G855-61. Epub 2008 Aug 28 doi: 10.1152/ajpgi.90359.2008. PMID: 18755804Free PMC Article
Magann EF, Martin JN Jr
Obstet Gynecol Surv 1995 Feb;50(2):138-45. doi: 10.1097/00006254-199502000-00026. PMID: 7731626

Recent systematic reviews

Estcourt LJ, Kohli R, Hopewell S, Trivella M, Wang WC
Cochrane Database Syst Rev 2020 Jul 27;7(7):CD003146. doi: 10.1002/14651858.CD003146.pub4. PMID: 32716555Free PMC Article
Adani G, Filippini T, Michalke B, Vinceti M
Neuroepidemiology 2020;54(1):1-23. Epub 2019 Aug 27 doi: 10.1159/000502357. PMID: 31454800
Estcourt LJ, Fortin PM, Hopewell S, Trivella M, Wang WC
Cochrane Database Syst Rev 2017 Jan 17;1(1):CD003146. doi: 10.1002/14651858.CD003146.pub3. PMID: 28094851Free PMC Article

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