Statistics from Altmetric.com
Typically, haemochromatosis becomes symptomatic in women in post-menopausal life. Herein, we report an unusual presentation of haemochromatosis with refractory cardiogenic shock.
A 26 year old pregnant woman was admitted for congestive heart failure and rapid atrial fibrillation. She suffered from an unexplored hypogonadotrophic hypogonadism, and the pregnancy was induced by gonadotrophin therapy. Echocardiography showed a severe left ventricular dysfunction (ejection fraction < 20%) without increased left ventricular end diastolic diameter nor septal hypertrophy. The diagnosis of fulminant myocarditis was first suspected. Three days after the admission, she presented a cardiogenic shock refractory to inotropic agents, requiring urgent surgical mechanical circulatory support. The resected left ventricular apex showed no evidence of myocarditis but revealed a major iron overload in all the cardiac myocytes observed with Pearls’ stain (right). The diagnosis of haemochromatosis was confirmed in serum by the increase in transferrin saturation and in ferritin concentration. Genetic study, performed in the leucocytes’ DNA of the patient, did not find the mutations C282Y and H63D of the HFE1 gene.
The patient had two sisters from a consanguineous family. One of the sisters suffers from hypogonadotrophic hypogonadism as well, and haemochromatosis was confirmed by abnormal biochemical iron parameters. These clinical and familial data strongly suggest that our patient suffered from a juvenile form of haemochromatosis. The peculiarity of this case is the extreme swiftness of the cardiac manifestation, looking like severe myocarditis. It is emphasised that unexplained cardiogenic shock or severe heart failure in young patients should evoke the diagnosis of juvenile haemochromatosis.