A 52-year-old male with
The patient’s family history is remarkable for his father
Educational Objective:
Justify checking transferrin saturation as initial testing for hemochromatosis.
Key Point:
Hemochromatosis should be suspected in patients with liver cirrhosis, diabetes mellitus, arthropathy and cardiomyopathy. Initial testing with transferrin saturation or ferritin level is indicated.
Explanation:
The clinical presentation is suggestive of hemochromatosis. The patient has chronic arthropathy affecting the metacarpophalangeal joints of the hands and the x-ray of his knee shows evidence of chondrocalcinosis. In addition the patient has diabetes mellitus and cardiomyopathy with conduction defects. All these findings are suggestive of iron deposition as the cause of the described disturbances. Furthermore his father died from liver disease in the absence of alcohol consumption. The initial testing should include measurement of transferrin saturation or serum ferritin levels. Genetic testing looking for homozygosity of the C282Y genotype may confirm the diagnosis later on. An MRI of the knee will not provide additional information as chondrocalcinosis is obvious from the x-ray. A slit lamp evaluation may be indicated in patients with Wilson's disease, but not with hemochromatosis
References:
Brissot P, Pietrangelo A, Adams PC, de Graaff B, McLaren CE, Loréal O. Haemochromatosis. Nat Rev Dis Primers. 2018 Apr 5;4:18016.
Pericleous M, Kelly C, Vijay C. The clinical management of hereditary haemochromatosis. Frontline Gastroenterol. 2018 Apr;9(2):110-114.
Educational Objective:
Justify checking transferrin saturation as initial testing for hemochromatosis.
Key Point:
Hemochromatosis should be suspected in patients with liver cirrhosis, diabetes mellitus, arthropathy and cardiomyopathy. Initial testing with transferrin saturation or ferritin level is indicated.
Explanation:
The clinical presentation is suggestive of hemochromatosis. The patient has chronic arthropathy affecting the metacarpophalangeal joints of the hands and the x-ray of his knee shows evidence of chondrocalcinosis. In addition the patient has diabetes mellitus and cardiomyopathy with conduction defects. All these findings are suggestive of iron deposition as the cause of the described disturbances. Furthermore his father died from liver disease in the absence of alcohol consumption. The initial testing should include measurement of transferrin saturation or serum ferritin levels. Genetic testing looking for homozygosity of the C282Y genotype may confirm the diagnosis later on. An MRI of the knee will not provide additional information as chondrocalcinosis is obvious from the x-ray. A slit lamp evaluation may be indicated in patients with Wilson's disease, but not with hemochromatosis
References:
Brissot P, Pietrangelo A, Adams PC, de Graaff B, McLaren CE, Loréal O. Haemochromatosis. Nat Rev Dis Primers. 2018 Apr 5;4:18016.
Pericleous M, Kelly C, Vijay C. The clinical management of hereditary haemochromatosis. Frontline Gastroenterol. 2018 Apr;9(2):110-114.