A 36 year old man comes to the ER of a small town hospital. He has a chief complaint of being short of breath and coughing.

He denies any fever. He has become progressively worse over the last 3-4 months. He smokes a pack of cigarettes and PMH reveals type 2 diabetes for 3 years.

Chest x ray reveals bibasilar infiltrates and fullness of upper lobe vasculature. There are a few fluffy infiltrates on both sides.

His echocardiogram shows EF of 34 % and normal valve function.

His blood sugar is 318 and other blood tests are normal - except raised ALT and AST which are both about 4 times normal.

Which one of the following is the LEAST appropriate test in the patient

1.  HIV serology

2. Rectal biopsy

3. Cardiac catheterization

4. Ferritin level

Answer is 1. Patient has Heart failure.  HIV is unlikely to cause this. Amyloidosis, Coronary artery disease (3 vessel ds) and hemachromatosis are possible diagnoses in him. This patient had hemachromatosis. Had he not had heart failure, PCP would be a relatively important diagnosis to consider. In that case HIV serology would be more appropriate. His ALT/AST may be increased simply due to heart failure or as a result of hemachromatosis related liver damage.

Recognize and screen for hemachromatosis

Explanation:

Early recognition with screening detects patients with a very high Iron (Fe) saturation (Fe/Transferrin ratio). Then one tests for high ferritin level (typically >1000 in hemachromatosis).

Confirmation of diagnosis is now done by genetic (DNA) testing but since about 15% of patients who have the disease will be false negatives on this test (because not all the genes causing the disease have been discovered,) so it cannot be used to rule out the disease. Its cost is approximately $200 so it is too expensive to be a screening test.

MRI also is useful in evaluating iron content of the liver.

Untreated disease progresses to cirrhosis(33% die from this). Other organs involved include heart (CHF 33% die from this), pancreas (diabetes), pituitary (insufficiency states), gonads, and skin ("bronzing").

Very often the pattern presented is of someone young (usually  male) with Diabetes and heart failure. In real life, I saw a 35 year old diabetic MALE patient who came in with lung infiltrate and pedal edema. It looked  like pneumonia with pedal edema. Certainly, it was unusual for a pneumonia patient to be afebrile and overhydrated therefore more tests were done -  including iron studies.  (CLUE was that the patient was afebrile - in exams, do not diagnose pneumonia if patient is afebrile - except in the deathly sick patient where the patient may not be able to mount a febrile reaction).

One may be presented a case with Pseudogout.  X-ray showing Chondrocalcinosis - think hemachromatosis.

Phlebotomy (blood letting) is the treatment of choice (approximately once a month). Desferoxamine iron chelation too is helpful.

Men are common victims because they do not (unlike women) have menses (almost equivalent to phlebotomy).

The commonest cause for death are Cirrhosis and heart failure(approx. equal frequency).

All blood relatives of the patient must be screened routinely (annually) for the rest of their lives.

To top it off, always remember that alcoholics too have a high ferritin level but usually less than 1000.