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Hereditary Transthyretin Amyloidosis: Case Studies


Activity Info

Over 130 genetic mutations have been described that contribute to hereditary TTR amyloidosis. This interactive, case-based webinar explains the pathogenesis, genetics, and manifestations of this disease and offers counseling recommendations and resources. Discussions between expert physicians and specialized genetic counselors bring patient cases to life in this interactive activity. Resources for genetic counselors and their patients are also available.

CME Information


Activity Title

Hereditary Amyloid Transthyretin Amyloidosis: Recognizing the Needle in a Genetic Haystack


Transthyretin Amyloidosis

Accreditation Type

AMA PRA Category 1 Credit(s)™; Genetic Counselor CEUs

Release Date

April 30, 2020

Expiration Date

April 29, 2021

Estimated Time to Complete Activity

1.0 hour


Upon completion of the activity, participants should be able to:

  • Review the pathology and epidemiology of ATTR and its manifestations
  • Discuss the diagnostic and classification process for amyloidosis
  • Differentiate between hATTR and ATTRwt based on genetic testing
  • Identify hATTR mutations based on genetic testing results
  • Summarize available and emerging treatment options for hATTR
  • Review the presently available options for patient education


Emily Brown, MGC, CGC

Certified Genetic Counselor
Center for Inherited Heart Disease
Johns Hopkins Hospital

Shawna Feely, MS, LGC
Licensed Genetic Counselor
Department of Neurology
University of Iowa

Mathew S. Maurer, MD
Professor of Medicine
Department of Medicine
Division of Cardiology
Arnold and Arlene Goldstein Professor of Cardiology
Medical Director, Clinical Cardiovascular Research Laboratory for the Elderly (CCRLE)
Columbia University

Michael E. Shy, MD
Director, Division of Neuromuscular Medicine
Professor of Neurology, Pediatrics and Molecular Physiology and Biophysics
Carver College of Medicine
University of Iowa

Module 1: Introduction to TTR Amyloidosis
Module 2: ATTRwt and hATTR cases
Module 3: hATTR neuropathy case
Module 4: hATTR case with mixed phenotype


  1. There are no fees for participating in and receiving credit for this activity.
  2. Review the activity objectives and CEU/CE information.
  3. Complete the CEU/CE activity.
  4. Complete the online posttest. A score of at least 80% is required to successfully complete this activity. The participant may take the test up to 3 times to successfully pass.
  5. Complete the CEU/CE evaluation/attestation form, which provides each participant with the opportunity to comment on how participating in the activity will affect their professional practice; the quality of the instructional process; the perception of enhanced professional effectiveness; the perception of commercial bias; and his/her views on future educational needs.
  6. Credit documentation/reporting:
    • Your CEU/CE certificate will be available for download.



This activity is provided by the National Society of Genetic Counselors in collaboration with The France Foundation.

Provided by the National Society of Genetic Counselors in collaboration with The France Foundation

This activity is intended for genetic counselors, nurses, nurse practitioners, and physician assistants.

There are significant challenges associated with the diagnosis and management of hereditary amyloid transthyretin amyloidosis (hATTR). Many genetic counselors are completely unaware of this disease, given its rarity and heterogenous clinical presentation. Genotyping and diagnosis of hATTR may be absent or delayed given symptomatology that overlaps with other diseases. Treatment approaches and options are limited and have only very recently become available. It is unlikely that all genetic counselors and specialists who manage hATTR are aware of them. Patient can only be counseled effectively if the specific mutation has been identified, yet formal guideline and counseling materials do not exist.

Genetic Counselors:
The National Society of Genetic Counselors (NSGC) has authorized The France Foundation to offer up to 0.1 CEUs or 1 Category 1 contact hour for the activity Hereditary Amyloid Transthyretin Amyloidosis: Recognizing the Needle in a Genetic Haystack. The American Board of Genetic Counseling (ABGC) will accept CEUs earned at this program for the purposes of genetic counselor certification and recertification.

Physicians: This activity is provided by The France Foundation in collaboration with the National Society of Genetic Counselors.

The France Foundation is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.

The France Foundation designates this enduring activity for a maximum of 1.0 AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Nurses: Nurses who are certified by the American Nurses Credentialing Center (ANCC) may utilize activities that are certified by ACCME-accredited providers toward their requirement for certification renewal by the ANCC. A certificate of attendance will be provided by The France Foundation, an ACCME accredited provider.

In accordance with the ACCME Standards for Commercial Support The France Foundation (TFF) and the National Society of Genetic Counselors (NSGC) require that individuals in a position to control the content of an educational activity disclose all relevant financial relationships with any commercial interest. TFF and NSGC resolve all conflicts of interest to ensure independence, objectivity, balance, and scientific rigor in all their educational programs. Furthermore, TFF and NSGC seek to verify that all scientific research referred to, reported, or used in a CME/CE activity conforms to the generally accepted standards of experimental design, data collection, and analysis. TFF and NSGC are committed to providing learners with high-quality CME/CE activities that promote improvements in health care and not those of a commercial interest.

Activity Staff Disclosures
The planners, reviewers, editors, staff, CME committee, or other members at The France Foundation who control content have no relevant financial relationships to disclose.

The planners, reviewers, editors, staff, CE committee, or other members at the National Society of Genetic Counselors who control content have no relevant financial relationships to disclose.

Faculty Disclosures

The faculty listed below report that they have no relevant financial relationships to disclose:

  • Ms. Shawna Feely

The faculty listed below report that they have relevant financial relationships to disclose:

  • Ms. Emily Brown serves as a consultant for Alnylam Pharmaceuticals.
  • Dr. Mathew Maurer serves as a consultant for Ackea, Alnylam, Eidos, Ionis and Pfizer. He also does contract research for Ackea, Alnylam, Eidos, Ionis, and Pfizer.
  • Dr. Michael Shy serves as a consultant for Alnylam, Acceleron, InFlectis, and Neurogene.

TFF and NSGC require CME faculty (speakers) to disclose when products or procedures being discussed are off label, unlabeled, experimental, and/or investigational, and any limitations on the information that is presented, such as data that are preliminary, or that represent ongoing research, interim analyses, and/or unsupported opinion. Faculty in this activity may discuss information about pharmaceutical agents that is outside of US Food and Drug Administration approved labeling. This information is intended solely for continuing medical education and is not intended to promote off-label use of these medications. TFF and NSGC do not recommend the use of any agent outside of the labeled indications. If you have questions, contact the Medical Affairs Department of the manufacturer for the most recent prescribing information.

This activity is supported by educational grants from Akcea Therapeutics, Alnylam, and Pfizer.

The France Foundation and the National Society of Genetic Counselors present this information for educational purposes only. The content is provided solely by faculty who have been selected because of recognized expertise in their field. Participants have the professional responsibility to ensure that products are prescribed and used appropriately on the basis of their own clinical judgment and accepted standards of care. The France Foundation, the National Society of Genetic Counselors, and the commercial supporter(s) assume no liability for the information herein.

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Webinar | Primary Care | CME (AMA PRA Category 1 Credit) | 1.0 - 60 mins | Interactive Case | Cardiology | Gastroenterology | Genetic Counselor | Internal Medicine | Neurology | Family Medicine | Nurse | Nurse Practitioner | Genomic Medicine | Amyloidosis | 

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