What specialist should a patient with persistent ferritin elevation be referred to?

Specialist Referral for Persistent Ferritin Elevation

Patients with persistent ferritin elevation should be referred to a gastroenterologist if ferritin is >1000 μg/L or if the cause remains unclear after initial evaluation, while hematology referral is appropriate for suspected hematologic malignancy or hemophagocytic syndromes. 1, 2

Initial Evaluation Before Referral

First, determine the likely cause of elevated ferritin by completing:

1. Complete iron studies:

   • Transferrin saturation (TSAT)
   • Serum iron
   • Total iron binding capacity (TIBC)

2. Decision algorithm based on TSAT 1:

   • TSAT >45%: Suggests true iron overload
   • TSAT <20%: Suggests functional iron deficiency with inflammation
   • Normal TSAT: Consider non-iron-related causes

Specialist Referral Based on Findings

Gastroenterology Referral

• When ferritin >1000 μg/L (associated with 20-45% risk of cirrhosis if true iron overload exists)
• When iron overload is suspected with elevated TSAT >45%
• When liver enzymes are elevated
• To rule out gastrointestinal malignancy as a source of chronic blood loss 3, 2

Hematology Referral

• When hematologic malignancy is suspected (most frequent cause of markedly elevated ferritin) 4
• When hemophagocytic lymphohistiocytosis (HLH) or macrophage activation syndrome is suspected (typically with extremely high ferritin >9000 μg/L) 5
• For evaluation of multiple myeloma (elevated ferritin is associated with poor prognosis) 6

Nephrology Referral

• When abnormal creatinine level or glomerular filtration rate (GFR) is present
• To evaluate for possible chronic renal disease 3

Rheumatology Referral

• When inflammatory conditions like adult-onset Still's disease are suspected
• When ferritin is extremely elevated (>10,000 μg/L) with systemic inflammatory symptoms 4

Common Pitfalls to Avoid

1. Not completing full iron studies: Isolated ferritin measurement without TSAT can lead to misdiagnosis.

2. Premature referral: 90% of elevated ferritin cases are due to non-iron overload conditions 2. Before referral, evaluate for:

   • Alcohol consumption
   • Metabolic syndrome
   • Obesity
   • Diabetes
   • Liver disease
   • Infection or inflammation

3. Missing rare but serious conditions: Very high ferritin levels (>9000 μg/L) should raise suspicion for hemophagocytic lymphohistiocytosis, which has 92.5% sensitivity and 91.9% specificity at this level 5.

4. Overlooking malignancy: Malignancy is the most common cause of markedly elevated ferritin (24% of cases with ferritin >1000 μg/L) 4.

Monitoring Recommendations

• For mild-moderate elevation without clear cause: Recheck ferritin and iron studies in 1-3 months
• For patients with ferritin between 300-800 ng/mL: Monitor every 3 months 1
• For confirmed iron overload undergoing treatment: Monitor every 3 months
• For stable patients without iron overload: Annual monitoring 1

Remember that elevated ferritin is often a marker of underlying disease rather than a primary condition, and appropriate specialist referral should be guided by the suspected underlying pathology.