2025 Clinician Corner - Aceruloplasminemia as a rare hereditary disease: four case reports in a single center

Overview

Abstract 

Aceruloplasminemia, which is a very rare iron metabolism disorder, may present with extremely nonspecific complaints, and disease screening should be considered, especially in patients with consanguineous marriages. We share four cases diagnosed with aceruloplasminemia and their characteristics. The first three cases were related to each other and have consanguineous marriages in their family history. Our first and fourth cases were diagnosed with aceruloplasminemia upon detecting hypochromic microcytic anemia, low transferrin saturation, and a high ferritin level in the examinations performed after a nonspecific complaint such as fatigue. Even though the second and third cases had no complaints, they were diagnosed during screening tests because they were relatives of the first case.  

Keywords:  Aceruloplasminemia, iron overload, microcytic anemia

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Faculty credentials/disclosure 

The planners and faculty for this activity have no relevant financial relationships to disclose. The patient consented to the publication of this report.

Process

Click the "add to cart/begin" button, pay any relevant fee, take the quiz, complete the evaluation, and claim your CME credit.  You must achieve 100% on the quiz with unlimited attempts available.

  • By completing this process, you are attesting that you have read the journal article.

Expiration date:

Credit eligibility for this article is set to expire on March 1, 2026.

Learning Objectives

After completing the article, the learner should be able to:

  • Describe the mechanism of action of vismodegib and its role in the treatment of locally advanced basal cell carcinoma (BCC). 
  • Recognize the histological markers commonly associated with BCC and understand how vismodegib treatment can alter these markers. 
  • Differentiate between BCC and basosquamous carcinoma based on histological features and immunohistochemical staining patterns, especially in patients undergoing vismodegib therapy. 

Key points 

  • The histology and immunophenotype of basal cell carcinomas can be altered by vismodegib.  
  • Squamous differentiation and the keratinizing phenomena can be observed in basal cell carcinomas being treated with vismodegib. 
  • Due to these alterations, patients on vismodegib should maintain regular skin checks and have any suspicious lesions biopsied.

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Course summary
Available credit: 
  • 1.00 American Board of Internal Medicine (ABIM) MOC Part 2
    Successful completion of this CME activity, which includes participation in the evaluation component, enables the participant to earn up to 1.00 MOC points in the American Board of Medicine’s (ABIM) Maintenance of Certification (MOC) program. It is the CME activity provider’s responsibility to submit participant completion information to ACCME for the purpose of granting ABIM MOC credit.
  • 1.00 AMA PRA Category 1 Credit™
    The A. Webb Roberts Center for Continuing Medical Education of Baylor Scott & White Health is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.
  • 1.00 Attendance
Course opens: 
03/01/2025
Course expires: 
03/01/2026
Cost:
$25.00
Rating: 
0

Faculty

  • Zülal İstemihan, MD - Division of Gastroenterohepatology, Department of Internal Medicine, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey 
  • Ziya İmanov, MD - Division of Gastroenterohepatology, Department of Internal Medicine, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey 
  • Bilger Çavuş, MD - Division of Gastroenterohepatology, Department of Internal Medicine, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey 
  • Aslı Çifcibaşı Örmeci MD - Division of Gastroenterohepatology, Department of Internal Medicine, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey 
  • Filiz Akyüz, MD - Division of Gastroenterohepatology, Department of Internal Medicine, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey 
  • Fatih Beşışık, MD - Division of Gastroenterohepatology, Department of Internal Medicine, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey 
  • Sabahattin Kaymakoğlu, MD - Division of Gastroenterohepatology, Department of Internal Medicine, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey 
  • Kadir Demir, MD - Division of Gastroenterohepatology, Department of Internal Medicine, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey 

Corresponding author: Zülal İstemihan, MD, Division of Gastroenterohepatology, Department of Internal Medicine, Istanbul Faculty of Medicine, Istanbul University, Istanbul, 34093, Türkiye (e-mail: zulalistemihan@hotmail.com) 

Accreditation

Accreditation

The A. Webb Roberts Center for Continuing Medical Education of Baylor Scott & White Health is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.

Designation

AMA PRA Category 1 Credit™

The A. Webb Roberts Center for Continuing Medical Education of Baylor Scott & White Health designates this Journal-based CME activity for a maximum of 1.0 AMA PRA Category 1 Credit™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

ABS CC

Successful completion of this CME activity enables the learner to earn credit toward the CME requirement of the American Board of Surgery’s Continuous Certification program. It is the CME activity provider's responsibility to submit learner completion information to ACCME for the purpose of granting ABS credit.

ABIM MOC

 Successful completion of this CME activity, which includes participation in the evaluation component, enables the participant to earn up to 1.0 MOC points in the American Board of Internal Medicine’s (ABIM) Maintenance of Certification (MOC) program. It is the CME activity provider’s responsibility to submit participant completion information to ACCME for the purpose of granting ABIM MOC credit.

 

Available Credit

  • 1.00 American Board of Internal Medicine (ABIM) MOC Part 2
    Successful completion of this CME activity, which includes participation in the evaluation component, enables the participant to earn up to 1.00 MOC points in the American Board of Medicine’s (ABIM) Maintenance of Certification (MOC) program. It is the CME activity provider’s responsibility to submit participant completion information to ACCME for the purpose of granting ABIM MOC credit.
  • 1.00 AMA PRA Category 1 Credit™
    The A. Webb Roberts Center for Continuing Medical Education of Baylor Scott & White Health is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.
  • 1.00 Attendance

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Price

Cost:
$25.00
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