Ferritin – Case Studies

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Case 1

44 yo M is referred to you because his PCP found an elevated serum ferritin. His CBC is normal. His iron indices are shown on the following slide:

A reminder about upper limit of normal range for serum ferritin. According to British Society of Haematology:

British Journal of Haematology, 2018,181,331–340

Repeat iron indices demonstrate a similarly elevated ferritin and TSAT.

The patient is otherwise well, has not received transfusions and denies alcohol intake. You order a CRP and liver function tests, which are normal.

According to British Society of Haematology:

British Journal of Haematology, 2018, 181, 293–303

The results for the hereditary hemochromatosis screen are the following:

Does the patient need a liver biopsy?

a
Yes
b
No

According to British Society of Haematology:

British Journal of Haematology, 2018, 181, 293–303

Which of the following might the patient complain of as a complication of their condition?

a
Arthralgias in 2nd and 3rd metacarpals
b
Hypothyroidism
c
Hypogonadism
d
Diabetes
e
Hyperpigmentation

ACG Clinical Guideline: Hereditary Hemochromatosis

You would expect serum hepcidin levels in this patient to be:

a
Increased
b
Decreased

Would you treat this patient with phlebotomy?

a
Yes
b
No

According to the ACG Clinical Guideline:

Treatment should be initiated in C282Y homozygotes with an elevated SF, defined as >300 ng/mL in men and >200 ng/mL in women, along with a TS of >45%.. Although patients with a SF of >1,000 ng/mL at the time of diagnosis are unlikely to have end-organ damage from HH, we still suggest treatment in this population considering that between 13% and 35% of men and between 16% and 22% of women will progress to a SF of >1,000 ng/mL if left untreated.

Am J Gastroenterol. 2019 Aug;114(8):1202-1218
Am J Gastroenterol. 2019 Aug;114(8):1202-1218

According to British Society of Haematology Guideline:

“Venesection is indicated for all fit patients with biochemical iron overload with or without clinical features”. British Journal of Haematology, 2018, 181, 293–303

Case 2

What are the most likely explanations for this set of lab results (choose two)?

a
Hypothyroidism with secondary iron overload
No such connection exists.
b
HLH
HLH may be associated with elevated ferritin and low haptoglobin, but TSAT is normal
c
HH with secondary cirrhsosis
This works! Elevated ferritin and TSAT from HH and low haptoglobin from cirrhosis.
d
Congenital hyperferritinemia cataract syndrome
Not associated with elevated TSAT or low haptoglobin.
e
Transfusional iron overload
Hereditary hemolytic anemias such as thalassemia or SCD who are transfused may develop iron overload with elevated ferritin and TSAT and low haptoglobin from hemolysis.

Here are some additional labs:

Case 3

Which of the following statement(s) is/are true (more than one answer may apply):

a
The patient likely has iron overload
Not with a low TSAT
b
Absolute iron deficiency is virtually ruled out
Perhaps with exception of CKD or in patients with ferritin leak, ferritin levels do not exceed 100 ng/ml in iron deficiency even with underlying inflammation
c
The results are consistent with inflammation
d
Highly suggestive of congenital hyperferrinemia cataract syndrome
Would not expect a low TSAT

Ferritin is an acute phase reactant.

In this case, the fibrinogen was elevated, as was the haptoglobin and CRP, while albumin and TIBC were both decreased. The patient had severe pneumonia with septic shock.

What CBC changes might you find (more than one answer may apply)?

a
Anemia
Anemia of inflammation
b
Leukocytosis
c
Thrombocytopenia
Secondary to sepsis
d
Thrombocytosis
Part of the acute phase response, but less common than thrombocytopenia in this context

Case 3

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