Case Report: HCV-triggered porphyria cutanea tarda in a patient with SEC23B-mutated congenital dyserythropoietic anemia type II - Report - MDSpire

Case Report: HCV-triggered porphyria cutanea tarda in a patient with SEC23B-mutated congenital dyserythropoietic anemia type II

  • By

  • Xianghong Jin

  • Yixuan Li

  • Yaping Liu

  • Xianyong Jiang

  • Junling Zhuang

  • Min Shen

  • Miao Chen

  • July 13, 2026

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Clinical Report: Porphyria Cutanea Tarda Induced by HCV in a Patient with SEC23B-Mutated CDA II

Background

Porphyria cutanea tarda is the most common porphyria and is frequently associated with chronic HCV infection. Understanding the interplay between genetic conditions like CDA II and viral infections is crucial for effective management of rare hematologic disorders.

Data Highlights

ParameterValue
Hemoglobin120 g/L
Total Bilirubin71.7 μmol/L
Direct Bilirubin10.2 μmol/L
ALT57 U/L
GGT64 U/L
Ferritin1,201 ng/mL
Transferrin Saturation94.7%
Plasma Free Erythrocyte Protoporphyrin13.3 μg/g Hb
HCV RNA9.42 × 105 IU/mL

Key Findings

  • The patient had SEC23B mutations leading to CDA II and developed PCT associated with HCV infection.
  • Initial treatment with hydroxychloroquine was ineffective.
  • Direct-acting antiviral therapy with sofosbuvir/velpatasvir resulted in undetectable HCV RNA and resolution of skin lesions.
  • Ferritin levels decreased from 1,201 ng/mL to 587 ng/mL post-treatment.

Clinical Implications

Healthcare providers should consider the possibility of PCT in patients with HCV and underlying genetic conditions like CDA II.

Conclusion

This case highlights the need for further understanding of the interactions between genetic and viral factors in the management of PCT.

Related Resources & Content

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  2. Blood Cancer Journal, 2021 -- Comparative Analysis of Phenotypic Characteristics and Thrombosis Incidence in Secondary Erythrocytosis and Polycythemia Vera
  3. Frontiers in Pediatrics, 2026 -- Case Report: Atypical hepatobiliary manifestations associated with erythrocyte membrane instability in glucose transporter type 1 deficiency syndrome
  4. Direct-acting antivirals for hepatitis C virus induce a rapid clinical and biochemical remission of porphyria cutanea tarda - PubMed
  5. AASLD-IDSA HCV Guidance, 2026 -- HCV Guidance: When and Whom to Initiate
  6. The New Gastroenterologist — Exploring the Histamine Pathway as a Therapeutic Approach for Erythropoietic Protoporphyria
  7. Congenital dyserythropoietic anemia type II and ineffective erythropoiesis: challenges in diagnosis and management
  8. https://www.hcvguidelines.org/wp-content/uploads/2026/05/AASLD-IDSA_HCVGuidance_WhenWhomInitiate_20260513_protected.pdf
  9. Direct-acting antivirals for hepatitis C virus induce a rapid clinical and biochemical remission of porphyria cutanea tarda - PubMed

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