Background/Purpose:

Adult onset Still’s disease (AOSD) is a rare form of inflammatory arthritis with inflammatory systemic disease of unknown etiology.  It is a diagnosis of exclusion and can be a diagnostic challenge.  A patient with suspected AOSD at our institution prompted a retrospective chart review of all patients with markedly elevated ferritin levels.  

The patient, a 59 year old male with fever of at least one month who underwent an extensive negative evaluation for infection, malignancy, and other autoimmune etiologies was treated with high dose corticosteroids.  A ferritin level at admission was 2200 ng/mL and rapidly rose to almost 50,000 ng/mL.  Treatment for AOSD with IL-1 and IL-6 inhibition was unsuccessful and he died within one month from multi-organ failure.  A bladder wall biopsy obtained just prior to death revealed an anaplastic large cell lymphoma.

Methods:

In order to determine the association of autoimmune disease, including AOSD, with markedly elevated ferritin levels, in comparison to non-autoimmune diagnoses, we conducted a retrospective chart review of patients with elevated ferritins > 10,000 ng/mL seen at our institution from January 2000 to July 2011.  Cases were divided into two subgroups, those with values between 10,000-15,000 and >15,000 ng/ml for analysis. The highest ferritin value was used when an individual subject had multiple values. There were 108 charts identified and reviewed for diagnoses at the time of the elevated ferritin level. Patients with either autoimmune disease, malignancies, liver disease, and/or infection were included in the analysis. Patients with hemoglobinopathies were excluded to avoid confounding of the ferritin levels by frequent blood transfusions. The remaining 88 cases were included for analysis. 

Results:

Twenty six patients with ferritin levels between 10,000-15,000 ng/ml were identified. The mean age of patients in this subgroup was 46.6 years.  Of these patients, 10/26 (38%) had elevated ferritin levels secondary to liver disease, 7/26 (27%) malignancy/infection, 6/26 (23%) malignancy alone, 1/26 (4%) autoimmune disease, and 1/26 (4%) infection and liver disease/infection respectively.   There were 62 patients with ferritins greater than 15,000 with a mean age of 44.3 years.  Of these patients, 29/62 (47%) had liver disease, 9/62 (14%) malignancy, 7/62 (11%) autoimmune, 7/62 (11%) infection, 4/62 (6%) liver disease/infection, 4/62 (6%) malignancy/infection and 2/62 (3%) autoimmune/infection.

Conclusion:

The observation that both ferritin groups include higher percentages of patients with liver disease and malignancy compared to autoimmune disease.  Although not a part of the diagnostic criteria for AOSD, the presence of hyperferritinemia is commonly used to assist with diagnosis.  These findings suggest that other diagnoses such as malignancies or liver disease should be considered in the differential diagnoses of markedly elevated ferritin levels.  The diagnosis of AOSD is a diagnosis of exclusion and other underlying causes need to be ruled out.

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ACR Meeting Abstracts - https://acrabstracts.org/abstract/diseases-associated-with-markedly-elevated-ferritin-levels/