Hemochromatosis differential diagnosis

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mehrian Jafarizade, M.D [2]

Overview

Haemochromatosis should be differentiate from other disorders with iron overload. Iron overload can be sue to iron absorption, or iron overload. Diseases in this category are: hemochromatosis, Thalassemia, chronic liver disease, sideroblastic anemia, african iron overload, and transfusion iron overload.

Differentiating Hemochromatosis from other Diseases

Haemochromatosis should be differentiate from other disorders with iron overload. Iron overload can be sue to iron absorption, or iron overload. Diseases in this category are: hemochromatosis, Thalassemia, chronic liver disease, sideroblastic anemia, african iron overload, and transfusion iron overload.

Different causes of iron overload
Category	Disorder	Etiology	Laboratory abnormalities	Physical examination	Mechanism
Increased Iron absorption	Hemochromatosis^[1]^[2]^[3]^[4]^[5]	Mutated HFE gene	Increased ferritin levels Decreased total iron-binding capacity High serum Iron High transferrin saturation High Hepatic iron concentration μg/g dry weight Perls' Prussian blue stain positive for Iron High Hepatic iron index	Fatigue Weakness Weight loss Abdominal pain Joint pain Congestive heart failure, arrhythmias or pericarditis Deafness Dysfunction of certain endocrine organs: Pancreatic gland, as above, manifesting as diabetes Adrenal gland (leading to adrenal insufficiency) Parathyroid gland (leading to hypocalcaemia) Pituitary gland Testes or ovary (leading to hypogonadism) A darkish color to the skin (see pigmentation, hence its name Diabete bronze )	Genetic mutations that affects iron absorption
	Thalassemia^[6]	Genetic defect with alpha- or beta-globin production Absence of alpha or beta-globin chains	Abnormal hemoglobin electrophoresis Abnormal high performance liquid chromatography^[7] Elevated ferritin (due to frequent transfusions and iron overload) Microcytic hypochromic anemia	Irritability Growth retardation Jaundice Hepatomegaly Splenomegaly	Ineffective erythropoiesis leading to suppression of hepcidin Transfusional iron overload may also contribute
	Chronic liver disease^[8]^[9]^[10]^[11]	Alcoholic liver disease Chronic hepatitis Non-alcoholic fatty liver disease (NAFLD)	Impaired liver function tests with hepatocellular pattern High ferritin	Jaundice Gynecomastia Spider angiomata Bruising Hepatosplenomegaly Ascites Testicular atrophy Asterixis Palmar erythema	Reduced hepcidin production
	Sideroblastic anemia^[12]^[13]^[14]	Alcoholism Chloramphenicol Isoniazid Copper deficiency (nutritional, zinc-induced, copper chelation) Vit B-6 deficiency X-linked sideroblastic anemia	Microcytic hypochromic anemia Normal to low reticulocyte count Increased ferritin levels Decreased total iron-binding capacity Hematocrit, 20-30% High serum Iron High transferrin saturation Basophilic stippling of red blood cells on peripheral blood smear in lead poisoning Prussian Blue stain of RBC in marrow, shows ringed sideroblasts	Seborrheic dermatitis Glossy Tongue Tingling Patient present with symptoms of Vitamin B6, copper deficiency symptoms	Ineffective erythropoiesis leading to suppression of hepcidin Increased iron recycling from the bone marrow and accumulation in the liver.
	African iron overload^[15]^[16]	Gene polymorphism in the gene for ferroportin which predisposes some people of African descent to iron overload	Increased ferritin levels Decreased total iron-binding capacity High serum Iron High transferrin saturation	Insert paragraph Fatigue Weakness Weight loss Abdominal pain Joint pain Congestive heart failure Dysfunction of certain endocrine organs	Increase iron absorption from intestine
Increased Iron intake	Transfusional overload	Recurrent blood transfusion for any reason	Increased ferritin levels Decreased total iron-binding capacity High serum Iron High transferrin saturation	Fatigue Weakness Weight loss Abdominal pain Joint pain Congestive heart failure Dysfunction of certain endocrine organs	Extra iron infusion
Increased Iron intake	Hemin infusion Treat acute intermittent porphyria	Hemin infusion	Increased ferritin levels Decreased total iron-binding capacity High serum Iron High transferrin saturation	Fatigue Weakness Weight loss Abdominal pain Joint pain Congestive heart failure Dysfunction of certain endocrine organs	Extra iron infusion

References

↑ Hemochromatosis-Diagnosis National Digestive Diseases Information Clearinghouse, National Institutes of Health, U.S. Department of Health and Human Services
↑ Crownover BK, Covey CJ (2013). "Hereditary hemochromatosis". Am Fam Physician. 87 (3): 183–90. PMID 23418762.
↑ Nielsen J, Jensen L, Krabbe K (1995). "Hereditary haemochromatosis: a case of iron accumulation in the basal ganglia associated with a parkinsonian syndrome". J Neurol Neurosurg Psychiatry. 59 (3): 318–21. PMID 7673967.
↑ Costello D, Walsh S, Harrington H, Walsh C (2004). "Concurrent hereditary haemochromatosis and idiopathic Parkinson's disease: a case report series". J Neurol Neurosurg Psychiatry. 75 (4): 631–3. PMID 15026513.
↑ Salgia RJ, Brown K (2015). "Diagnosis and management of hereditary hemochromatosis". Clin Liver Dis. 19 (1): 187–98. doi:10.1016/j.cld.2014.09.011. PMID 25454304.
↑ Gibbons RJ (2012). "α-Thalassemia, mental retardation, and myelodysplastic syndrome". Cold Spring Harb Perspect Med. 2 (10). doi:10.1101/cshperspect.a011759. PMC 3475406. PMID 23028133.
↑ Chui DH, Cunningham MJ, Luo HY, Wolfe LC, Neufeld EJ, Steinberg MH (2006). "Screening and counseling for thalassemia". Blood. 107 (4): 1735–7. doi:10.1182/blood-2005-09-3557. PMC 1895412. PMID 16461765.
↑ Ceni E, Mello T, Galli A (2014). "Pathogenesis of alcoholic liver disease: role of oxidative metabolism". World J. Gastroenterol. 20 (47): 17756–72. doi:10.3748/wjg.v20.i47.17756. PMC 4273126. PMID 25548474.
↑ Mathurin P, Bataller R (2015). "Trends in the management and burden of alcoholic liver disease". J. Hepatol. 62 (1 Suppl): S38–46. doi:10.1016/j.jhep.2015.03.006. PMC 5013530. PMID 25920088.
↑ Lucey MR, Mathurin P, Morgan TR (2009). "Alcoholic hepatitis". N. Engl. J. Med. 360 (26): 2758–69. doi:10.1056/NEJMra0805786. PMID 19553649.
↑ Datz C, Müller E, Aigner E (June 2017). "Iron overload and non-alcoholic fatty liver disease". Minerva Endocrinol. 42 (2): 173–183. doi:10.23736/S0391-1977.16.02565-7. PMID 27834478.
↑ Cazzola M, Invernizzi R (June 2011). "Ring sideroblasts and sideroblastic anemias". Haematologica. 96 (6): 789–92. doi:10.3324/haematol.2011.044628. PMC 3105636. PMID 21632840.
↑ Bottomley SS, Fleming MD (August 2014). "Sideroblastic anemia: diagnosis and management". Hematol. Oncol. Clin. North Am. 28 (4): 653–70, v. doi:10.1016/j.hoc.2014.04.008. PMID 25064706.
↑ Long Z, Li H, Du Y, Han B (August 2018). "Congenital sideroblastic anemia: Advances in gene mutations and pathophysiology". Gene. 668: 182–189. doi:10.1016/j.gene.2018.05.074. PMID 29787825.
↑ Gordeuk VR (October 2002). "African iron overload". Semin. Hematol. 39 (4): 263–9. PMID 12382201.
↑ Gordeuk V, Caleffi A, Corradini E, Ferrara F, Jones R, Castro O, Onyekwere O, Kittles R, Pignatti E, Montosi G, Garuti C, Gangaidzo I, Gomo Z, Moyo V, Rouault T, MacPhail P, Pietrangelo A (2003). "Iron overload in Africans and African-Americans and a common mutation in the SCL40A1 (ferroportin 1) gene". Blood Cells Mol Dis. 31 (3): 299–304. PMID 14636642.

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[1] Hemochromatosis-Diagnosis National Digestive Diseases Information Clearinghouse, National Institutes of Health, U.S. Department of Health and Human Services

[pmid234187622-2] Crownover BK, Covey CJ (2013). "Hereditary hemochromatosis". Am Fam Physician. 87 (3): 183–90. PMID 23418762.

[Nielsen_1995-3] Nielsen J, Jensen L, Krabbe K (1995). "Hereditary haemochromatosis: a case of iron accumulation in the basal ganglia associated with a parkinsonian syndrome". J Neurol Neurosurg Psychiatry. 59 (3): 318–21. PMID 7673967.

[Costello_2004-4] Costello D, Walsh S, Harrington H, Walsh C (2004). "Concurrent hereditary haemochromatosis and idiopathic Parkinson's disease: a case report series". J Neurol Neurosurg Psychiatry. 75 (4): 631–3. PMID 15026513.

[pmid25454304-5] Salgia RJ, Brown K (2015). "Diagnosis and management of hereditary hemochromatosis". Clin Liver Dis. 19 (1): 187–98. doi:10.1016/j.cld.2014.09.011. PMID 25454304.

[pmid23028133-6] Gibbons RJ (2012). "α-Thalassemia, mental retardation, and myelodysplastic syndrome". Cold Spring Harb Perspect Med. 2 (10). doi:10.1101/cshperspect.a011759. PMC 3475406. PMID 23028133.

[pmid16461765-7] Chui DH, Cunningham MJ, Luo HY, Wolfe LC, Neufeld EJ, Steinberg MH (2006). "Screening and counseling for thalassemia". Blood. 107 (4): 1735–7. doi:10.1182/blood-2005-09-3557. PMC 1895412. PMID 16461765.

[pmid25548474-8] Ceni E, Mello T, Galli A (2014). "Pathogenesis of alcoholic liver disease: role of oxidative metabolism". World J. Gastroenterol. 20 (47): 17756–72. doi:10.3748/wjg.v20.i47.17756. PMC 4273126. PMID 25548474.

[pmid25920088-9] Mathurin P, Bataller R (2015). "Trends in the management and burden of alcoholic liver disease". J. Hepatol. 62 (1 Suppl): S38–46. doi:10.1016/j.jhep.2015.03.006. PMC 5013530. PMID 25920088.

[pmid19553649-10] Lucey MR, Mathurin P, Morgan TR (2009). "Alcoholic hepatitis". N. Engl. J. Med. 360 (26): 2758–69. doi:10.1056/NEJMra0805786. PMID 19553649.

[pmid27834478-11] Datz C, Müller E, Aigner E (June 2017). "Iron overload and non-alcoholic fatty liver disease". Minerva Endocrinol. 42 (2): 173–183. doi:10.23736/S0391-1977.16.02565-7. PMID 27834478.

[pmid21632840-12] Cazzola M, Invernizzi R (June 2011). "Ring sideroblasts and sideroblastic anemias". Haematologica. 96 (6): 789–92. doi:10.3324/haematol.2011.044628. PMC 3105636. PMID 21632840.

[pmid25064706-13] Bottomley SS, Fleming MD (August 2014). "Sideroblastic anemia: diagnosis and management". Hematol. Oncol. Clin. North Am. 28 (4): 653–70, v. doi:10.1016/j.hoc.2014.04.008. PMID 25064706.

[pmid29787825-14] Long Z, Li H, Du Y, Han B (August 2018). "Congenital sideroblastic anemia: Advances in gene mutations and pathophysiology". Gene. 668: 182–189. doi:10.1016/j.gene.2018.05.074. PMID 29787825.

[pmid12382201-15] Gordeuk VR (October 2002). "African iron overload". Semin. Hematol. 39 (4): 263–9. PMID 12382201.

[Gordeuk_2003-16] Gordeuk V, Caleffi A, Corradini E, Ferrara F, Jones R, Castro O, Onyekwere O, Kittles R, Pignatti E, Montosi G, Garuti C, Gangaidzo I, Gomo Z, Moyo V, Rouault T, MacPhail P, Pietrangelo A (2003). "Iron overload in Africans and African-Americans and a common mutation in the SCL40A1 (ferroportin 1) gene". Blood Cells Mol Dis. 31 (3): 299–304. PMID 14636642.

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Hemochromatosis differential diagnosis

Overview

Differentiating Hemochromatosis from other Diseases

References

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