Tuesday, April 17, 2012

Hemochromatosis and Febrile Neutropenia - Tuesday April 17, 2012

Thank you Dr. A. Page for hosting morning report and to team 8 for bringing a fascinating case.

Today, we discussed a patient with hemochromatosis and many of its complications including liver cirrhosis, heart failure, diabetes, hypothyroidism, and hypogodnadism.  This patient was also started on oral iron chelation therapy (deferiprone) and presented with febrile neutropenia with a 1-day history of fever, malaise, dry cough, enlarged cervical lymph nodes, dysphagia, and rash on trunk.

We first discussed hemochromatosis as an autosomal recessive genetic disease (most common mutation is C282Y on the HFE gene) that results in iron overload.  Patients have high iron saturation (>45%) and high ferritin.  Genetic testing is done for diagnosis in the presence of iron overload.  Iron deposits can cause dysfunction in many organs including liver, heart, pancreas (diabetes), skin, gonads, and joints.  Main treatment is phlebotomy and/or iron chelation (which our patient is on).

We discussed the etiology of the patient’s neutropenia is likely secondary to deferiprone (known to cause agranulocytosis).  We also discussed other causes of neutropenia including bone marrow suppression from infection or drugs (e.g. levamisole, chemotherapy, …), nutritional deficiency, and infiltration of bone marrow.  He would be treated like any other patients with febrile neutropenia requiring empiric broad-spectrum antibiotics coverage until organism/source identified and/or recovery of neutrophil counts.

We also discussed the presentation of dry cough, enlarged lymph nodes, dysphagia, and malaise.  While a non-infectious cause (e.g. lymphoma) is possible, the onset is quite rapid.  We focused our discussion on infectious causes that included:  bacterial (group A strep, Arcanobacerium haemolyticum), viruses (HIV, hepatitis, EBV, CMV, Measle, Parvo virus), fungal disease (mucormycosis, less likely Candida), and TB.  We also discussed some syndromes involving infection of the head and neck area including Ludwig’s Angina, Lemierre’s syndrome (septic thrombophlebitis, most common Fusobacterium), and Vincent angina.

You can read more about hemochromatosis here.  There is one study, quoting the rate of agranulocytosis and neutropenia at 0.2 and 2.8 per 100-patient-year while on deferiprone (Cohen AR et al. Blood 2003.  102(5):1583-7; link here).

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