Thread by @SyedGerdezi

How I Approach Patients With Elevated Serum Ferritin
An excellent article by @AmCollegeGastro with quite useful & practical points for GI Trainees. @BSGTrainees. @LiverFellow #LiverTwitter @GwentLiverUnit

journals.lww.com/ajg/Abstract/2…

👉Common Hepatology referral
❓HH/IO
⬇️ Fe = Iron Def
⬆️ Fe ≠ Iron Overload (not always)

Better used in combination with
✅History
✅TS Levels

Causes of ⬆️Fe

⬆️ Fe without IO

👉90 % cases
👉Liver (ARLD, NAFLD, Viral)
👉Inflammatory (acute,chronic, AI).
👉Metabolic-Syndrome
👉ETOH

⬆️ Fe with IO
👉Primary:Genetic
👉2ndary: ineffective erythropoiesis, frequent iron or blood transfusions.

Investigating ⬆️ Fe
👉Morning sample
👉Reactive hyperferritinemia vs IO state
( clinical evaluation, laboratory, and/or radiological investigation).

Patient history and cutoff TS value of 55% provides a high sensitivity for delineating primary from secondary IO etiologies

Genetic Testing
👉HFE ➡️ Hype 1 HH,
✅ Common form,
✅C282Y, H630, and S65C mutations
If negative and HH is still suspected

👉Non-HFE ➡️ type 2, 3, and 4 HH.

A diagnosis of secondary IO usually necessitates a hematology consultation.

Gene Testing

C282Y---> Key mutation.
👉Type I HH (C282Y/C282Y)- Most common
👉Type Ib HH (C282Y/H63D) only 0.5%–5% clinical penetrance.

‼️H63D or S65C no risk of developing clinical IO.

Role of MRI❓
✅T2W in selected patients with equivocal laboratory results .

Treatment
🙋🏻‍♂️Primary IO
✅phlebotomy 1st.
✅Chelation ➡️ severe heart disease/ anemia.

⬆️Fe is a predictor of hepatic fibrosis.
👉 SF goal of 50–100 μg/L.
👉Liver biopsy if Fe >1,000 μg/L.

🙋🏻‍♂️Secondary IO
✅Chelation.

🙋🏻‍♂️Reactive hyperferritinemia
✅Monitor 3 monthly.