Question

A 45-year-old man is referred to your hematology office by his primary care physician. He had a physical examination 2 months ago; routine blood tests revealed marked elevation of serum iron levels. Follow up testing revealed elevated transferrin saturation of greater than 60%, as well as elevated ferritin. The iron studies were repeated twice for confirmation; both were fasting specimens.

The patient reports that he has been feeling well, and has not had any unusual or unexplained symptoms. He reports that he eats a well-rounded diet. He is not a vegetarian, but he does not feel that he eats excessive amounts of red meat. He does not take any vitamins or iron supplements. He had not had a physical in years, but does not recall anyone previously mentioning elevated iron levels to him before. He has no history of hemolytic anemias, multiple transfusions, liver disease, or hemodialysis. He has never been hospitalized. He has never had any surgery. He is not currently taking any prescription medications. He is allergic to sulfur, which causes a rash. Family history is significant for kidney failure and heart failure in his grandfather, but he is not sure what caused this. He is not aware of anyone in his family with hypertension, diabetes, cancer, or stroke. Social history reveals that he is a banker, and he works in an office setting. He is not exposed to any toxic chemicals, fumes, or smoke. He does not drink alcohol. Review of systems is negative for chest pain, shortness of breath, abdominal pain, rectal bleeding, change in appetite, or weight loss.

Physical examination reveals a man that appears to be his stated age. He is well developed. Blood pressure is 110/70 mm Hg, pulse 74/min, and respirations 12/min. He is afebrile. Head, ears, eyes, nose and throat examinations are normal. Lungs are clear to auscultation bilaterally. Cardiac auscultation reveals S1, S2, and possibly an S3. There is no distinct murmur, and the rhythm is regular. Abdominal examination reveals no tenderness. There are normal bowel sounds. The liver span is slightly increased to percussion. There are no abdominal bruits. There is no peripheral edema. Peripheral pulses are normal, and neurologic examination is nonfocal.

Laboratory studies reveal:

White blood cell count 8.5

Hemoglobin 14.7

Hematocrit 50.2

Platelets 177

Serum iron 202 (high)

Serum ferritin 703 (high)

Transferrin saturation 62%



You discuss hemochromatosis with the patient, but recommend a liver biopsy to confirm the diagnosis and help determine the prognosis. The patient refuses to accept the risk of having a liver biopsy to confirm the diagnosis; based on his own research, he is convinced that he has hemochromatosis. Before discussing treatment options, how could you also confirm the diagnosis of hemochromatosis?

Answer 1

To confirm the diagnosis of hemochromatosis, a genetic test for HFE gene mutations is recommended. Treatment options include phlebotomy and chelation therapy. Consultation with a healthcare professional is necessary.

Step-by-step explanation:

The elevated iron levels, high transferrin saturation, and elevated ferritin indicate a possible diagnosis of hemochromatosis. Hemochromatosis is a rare genetic disorder characterized by excessive iron absorption and accumulation in the body. To confirm the diagnosis, you can perform a genetic test for the HFE gene mutations associated with hemochromatosis.

In hemochromatosis, iron accumulates in various organs, especially in the liver. This can lead to liver damage and other complications if left untreated. Treatment options for hemochromatosis include phlebotomy (removing blood to lower iron levels) and chelation therapy (using medications to bind and remove excess iron).

It's important to consult with a healthcare professional for a definitive diagnosis and appropriate management plan.

Answer 2

Genetic testing for the HFE gene mutations (C282Y and H63D) is crucial to confirm the diagnosis of hemochromatosis in this patient.

Step-by-step explanation:

Considering the patient's elevated iron studies and the suspicion of hemochromatosis, genetic testing for HFE gene mutations is a non-invasive and reliable method for confirmation. In hereditary hemochromatosis, the most common form of iron overload, mutations in the HFE gene are often present. While liver biopsy is a gold standard for assessing iron levels, it carries risks and may not be necessary if genetic testing confirms the diagnosis. Positive results for C282Y or H63D mutations support the diagnosis, allowing for appropriate management, such as therapeutic phlebotomy.