medigraphic.com
ISSN 1029-3043 (Electronic)

2020, Number 4

<< Back Next >>

Medicentro 2020; 24 (4)

Hypertransaminasemia, asthenia, arthralgia and skin hyperpigmentation

Mateu LAD, González FL, Gra OB

Language: Spanish
References: 10
Page: 842-849
PDF size: 333.95 Kb.


ABSTRACT

Hereditary hemochromatosis is an uncommon metabolic disease, primarily affecting the liver in which increased intestinal absorption of iron is seen. We presented a 49- year -old patient who was evaluated in an outpatient clinic for suffering from asthenia, anorexia, arthralgia and skin hyperpigmentation associated with hypertransaminasemia and negative serology for B and C viruses from about two years ago. Serum ferritin, and transferrin saturation levels evidenced iron overload and homozygosity for the C282Y mutation confirmed the suspected diagnosis; other conditions were ruled out such as chronic hepatitis due to B and C viruses, non-alcoholic steatohepatitis, chronic hemolytic anemia, sideroblastic anemia, thalassemia major or some other metabolic diseases affecting the liver. Liver biopsy showed typical findings related to this condition. Weekly phlebotomies were well tolerated, as well as clinical improvement of the patient and laboratory parameters were achieved.


REFERENCES

  1. Crawford H. Review: Hereditary Hemochromatosis types 1, 2, 3. Clin Liver Dis. 2014;3(5):96-97.

  2. Powell LW. Hemochromatosis. En: Fauci AS, Braunwald E, Isselbacher KJ, Wilson JD, Martin JB, Kasper DL, et al. Harrison`s Principles of Internal Medicine. 19th ed. New York, USA: Mc Graw Hill Education; 2015. p. 2514-9.

  3. Altés R, Sanz C, Bruguera Cortada M. Hemocromatosis hereditaria: Problemas en el diagnóstico y tratamiento. Med Clín (Barc.).2015;144(9):424-8.

  4. Brugera Cortada M. Hemocromatosis hereditaria. En: Farreras, Rozman. (eds.) Medicina Interna. 17th ed. Barcelona, España: Elsevier; 2012. p. 334-6.

  5. Porter RS (ed.), Kaplan JL (ed.). Iron Overload. En: The Merck Manual of Diagnosis and Therapy. 19th ed. United States: Elsevier; 2011. p 1172-1177.

  6. Mantilla-Hernández JC, Amaya-Mujica J. Juvenile hemochromatosis with multi-organ involvement diagnosed at autopsy. Rev Esp Patol. 2019 ene.-mar.;52(1):45-9.

  7. Bacon BR, Adams PC, Kowdley KV, Powell LW, Tavill AS. Diagnosis and Management of Hemochromatosis: 2011 Practice Guideline by the American Association for the Study of Liver Diseases. Hepatology. 2011 Jun. 24 [citado 26 sep. 2018];54(1):[aprox. 16 p.]. Disponible en: https://aasldpubs.onlinelibrary.wiley.com/doi/full/10.1002/hep.24330

  8. Fillipoff A, Fleischman S, Donadi M, Sebastiano V, Castro M, et al. Ingesta de hierro y gen HFE en varones adultos de Buenos Aires. Medicina (Buenos Aires). 2017;77(6):458-64.

  9. Fernández Delgado ND, Forrellat Barrios M, Valledor Tristá R, Lavaut Sánchez K, Cervera García I. Hemocromatosis hereditaria Tipo I: a propósito de cuatro casos confirmados. Rev Cubana Hematol, Inmunol Hemoter [internet]. 2014 [citado 27 sep. 2018];30(1):[aprox. 9 p.]. Disponible en: https://www.medigraphic.com/pdfs/revcubheminmhem/rch-2014/rch141h.pdf

  10. Corrales Alonso S, Morales Díaz M, Estévez López M, Díaz Borroto AL, Álvarez Vega NP, Celestrín Tápanes H. Hemocromatosis hereditaria Tipo I. Presentación de un caso. Rev Méd Electrón [internet]. ene.-feb. 2017 [citado 27 sep. 2018];39(1):[aprox. 10 p.]. Disponible en: http://scielo.sld.cu/scielo.php?pid=S1684-18242017000100011&script=sci_arttext&tlng=pt




2020     |     www.medigraphic.com