Skip to main content
Patients With Hereditary Angioedema Often Misdiagnosed
CSL Behring announces the publication of its latest Key Issues Dialogue – Hereditary Angioedema (HAE) in the US. This ongoing series brings together thought leaders from the medical science and patient advocacy communities to examine critical issues affecting people with rare and serious diseases.

CSL Behring announces the publication of its latest Key Issues Dialogue – Hereditary Angioedema (HAE) in the US. This ongoing series brings together thought leaders from the medical science and patient advocacy communities to examine critical issues affecting people with rare and serious diseases. The participants share and explore information and ideas that are important for patients, caregivers and healthcare providers. The current and previous Dialogues are available for download.

HAE is a rare and potentially fatal genetic condition caused by a deficiency or dysfunction of the plasma protein C1 Inhibitor, resulting in extreme swelling in body tissue. While the number of people in the US who suffer from HAE is relatively small by comparison with other more common diseases – estimates range from 1 in 10,000 to 1 in 50,000 – statistical significance is irrelevant if you or a loved one has HAE. Until recently there have been few if any effective treatment options even for those who are diagnosed.

CSL Behring’s Key Issues Dialogue on HAE brought together physician-researchers and patient advocates to discuss and examine a wide range of issues regarding the disease. The physician-researchers included:

  • Dr. Bruce Zuraw, Professor of Medicine, University of California, San Diego and Staff Physician, San Diego VA Medical Center
  • Dr. Marc Riedl, Assistant Professor of Medicine and Section Head of Clinical Immunology and Allergy, Department of Medicine, UCLA David Geffen School of Medicine
  • Dr. H. Henry Li, Director of Immunology, Institute for Asthma and Allergy

The following are some of the key issues discussed in this Dialogue.

HAE is frequently misdiagnosed and incorrectly treated

  • HAE is so rare that most physicians never encounter it in the course of their work, accounting in large part for its being frequently misdiagnosed.
  • Most physicians are far more likely to have seen patients with angioedema, or general swelling, which is typically treated with antihistamines and steroids.
  • Undiagnosed HAE patients are often treated with antihistamines and steroids, which are ineffective for treating HAE and can be harmful to an HAE patient.

Failure to connect the dots

  • Current health care system is fragmented and full of overcrowded emergency rooms where HAE patients are often treated with antihistamines and steroids and rushed out.
  • Physicians often don’t know whether the treatment worked or not, so the dots are never connected and patients are treated repeatedly with ineffective therapy.

New therapies slow coming into the market

  • Far more time is required to identify rare disease patients for clinical studies and observe the effects of treatment than is true of common diseases.
  • New therapies for treating HAE have been slow in being introduced into the market because it is a rare disease.

Early treatment is critical

  • Because of the severe pain often associated with HAE, treatment is most effective early in an attack before the pain becomes debilitating – ideally in the home setting.
  • There continues to be resistance among health care delivery systems and physicians to allowing patients to self-administer treatments for HAE.
  • Goal is to push the treatment more and more toward the home through a process of education, publication and advocacy.
  • HAE patients and their doctors must establish a treatment plan that includes explicit instructions and protocol for dealing with emergency situations.

Raising awareness can reduce unnecessary surgery

  • HAE patients are frequently misdiagnosed and, as a result, undergo unnecessary surgery.
  • There is an urgent need to raise awareness among physicians who are typically among the first to see patients with HAE, i.e. emergency room and family physicians, internists, pediatricians, gastroenterologists and dermatologists.
  • Establishing awareness programs is the most effective way to reduce the frequency with which HAE patients are misdiagnosed with other conditions such as multiple food or medication allergies, and consequently eliminate many unnecessary procedures.

Legislative reform

  • Reforms that would help patients with HAE include the elimination of insurance caps on individual or lifetime expenditures.

About CSL Behring

CSL Behring is a leader in the plasma protein therapeutics industry. Committed to saving lives and improving the quality of life for people with rare and serious diseases, the company manufacturers and markets a range of plasma-derived and recombinant therapies worldwide.

CSL Behring therapies are indicated for the treatment of coagulation disorders including hemophilia and von Willebrand disease, primary immune deficiencies, hereditary angioedema and inherited respiratory disease. The company’s products are also used in cardiac surgery, organ transplantation, burn treatment and to prevent hemolytic diseases in newborns.

CSL Behring operates one of the world’s largest plasma collection networks, CSL Plasma. CSL Behring is a subsidiary of CSL Limited (ASX: CSL), a biopharmaceutical company headquartered in Melbourne, Australia. For more information, visit


Chris Florentz
Manager, Corporate Communications

Get our latest news releases in your inbox
* Required Fields