[Diagnosis of haemochromatosis]. / Diagnostiek naar hemochromatose.
Ned Tijdschr Geneeskd
; 161: D1438, 2017.
Article
en Nl
| MEDLINE
| ID: mdl-29145899
Interpretation of laboratory parameters in cases of haemochromatosis can be difficult. Here, we describe two patients with markedly elevated transferrin saturation and high ferritin levels. The first patient is a 51-year-old woman who had been complaining of fatigue, abdominal pain and arthritis for three years. Her liver enzymes were mildly elevated. Secondary causes of iron overload had been excluded. DNA investigation found a homozygous p.Cys282Tyr mutation in the HFE protein, consistent with hereditary haemochromatosis. The second patient is a 58-year-old man with general malaise and cholestatic liver injury. The p.Cys282Tyr and p.His63Asp mutations in the HFE protein could not be detected. Ultrasound of the liver revealed steatosis. The patient was a heavy drinker and a diagnosis of iron overload caused by alcoholic liver disease was made. Based on these case reports, we discuss the strategy to diagnose haemochromatosis and the background of associated laboratory tests.
Buscar en Google
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Sobrecarga de Hierro
/
Hemocromatosis
/
Hepatopatías Alcohólicas
Tipo de estudio:
Diagnostic_studies
/
Etiology_studies
Límite:
Female
/
Humans
/
Male
/
Middle aged
Idioma:
Nl
Revista:
Ned Tijdschr Geneeskd
Año:
2017
Tipo del documento:
Article
Pais de publicación:
Países Bajos