In the Journals

Proposal offers 'refined' definition of autoinflammatory disease

An international group of researchers proposed a more “refined” definition of autoinflammatory diseases and also proposed changes to the naming convention for these diseases, according to a report in Annals of the Rheumatic Diseases.

“Over the last 19 years, more and more diseases have been classified among this group of disorders, some of which may not fit well with the classical definition of the [autoinflammatory diseases],” Eldad Ben-Chetrit, MD, of the Hadassah Hebrew University Medical Center, Jerusalem, and colleagues wrote. “Moreover, many of them were given names with no systematic guidelines or rules. In some cases, the same disease carries several names. This has led to a chaotic situation in naming these clinical disorders and has called for a better standardization of this field.”

To “refine the definition” of autoinflammatory diseases and to provide rules for naming disorders currently in the group, Ben-Chetrit and colleagues employed the Delphi technique, which includes internet and mail questionnaires and communication between experts. First, the researchers conducted a literature review of 536 papers from 1998 to January 2016, of which seven specifically dealt with the definitions of autoinflammatory diseases. The researchers then communicated through mail to determine the best definition for autoinflammatory diseases, as well as the most fitting name for each disorder, aiming for a consensus of at least 80% agreement.

An international group of researchers proposed a more “refined” definition of autoinflammatory diseases, according to a report.
Source: Shutterstock

In addition, Ben-Chetrit and colleagues formed a steering committee of six clinicians and researchers, from six countries, who received a questionnaire containing the definitions and naming conventions. Once the questionnaire received 100% consensus among the members of the committee, it was then sent to 26 physicians and researchers in the field of autoinflammatory disease to gain broader support for the proposals.

According to the researchers, autoinflammatory diseases are best defined, in full, as “clinical disorders caused by defect(s) or dysregulation of the innate immune system, characterized by recurrent or continuous inflammation (elevated acute phase reactants-APR) and the lack of a primary pathogenic role for the adaptive immune system (autoreactive T-cells or autoantibody production).”

In addition, the group developed nine recommendations for naming various diseases in the autoinflammatory family, including:

  • Avoid changing the name of a disease where it the current name is appropriate;
  • Use the name of the gene involved in the disease when it is known, rather than the encoded protein, unless the name of the gene is not accurate or meaningless;
  • Include key clinical features;
  • Favor shorter names wherever possible; and
  • Use a name that is as clear as possible.

“The currently proposed rules for nomenclatures of [autoinflammatory diseases] are expected to allow a better organization of these groups of immune diseases,” Ben-Chetrit and colleagues wrote. “However, taxonomy is a dynamic process and some of the proposed names may be changed in the future as we gain a better knowledge about their pathogenesis. The proposed taxonomy may gain a broader consensus following an effective communication with other societies such as the International Union of Immunological Societies Expert Committee.” – by Jason Laday

Disclosure: Ben-Chetrit reports no relevant financial disclosures. Please see the study for all other authors’ relevant financial disclosures.

An international group of researchers proposed a more “refined” definition of autoinflammatory diseases and also proposed changes to the naming convention for these diseases, according to a report in Annals of the Rheumatic Diseases.

“Over the last 19 years, more and more diseases have been classified among this group of disorders, some of which may not fit well with the classical definition of the [autoinflammatory diseases],” Eldad Ben-Chetrit, MD, of the Hadassah Hebrew University Medical Center, Jerusalem, and colleagues wrote. “Moreover, many of them were given names with no systematic guidelines or rules. In some cases, the same disease carries several names. This has led to a chaotic situation in naming these clinical disorders and has called for a better standardization of this field.”

To “refine the definition” of autoinflammatory diseases and to provide rules for naming disorders currently in the group, Ben-Chetrit and colleagues employed the Delphi technique, which includes internet and mail questionnaires and communication between experts. First, the researchers conducted a literature review of 536 papers from 1998 to January 2016, of which seven specifically dealt with the definitions of autoinflammatory diseases. The researchers then communicated through mail to determine the best definition for autoinflammatory diseases, as well as the most fitting name for each disorder, aiming for a consensus of at least 80% agreement.

An international group of researchers proposed a more “refined” definition of autoinflammatory diseases, according to a report.
Source: Shutterstock

In addition, Ben-Chetrit and colleagues formed a steering committee of six clinicians and researchers, from six countries, who received a questionnaire containing the definitions and naming conventions. Once the questionnaire received 100% consensus among the members of the committee, it was then sent to 26 physicians and researchers in the field of autoinflammatory disease to gain broader support for the proposals.

According to the researchers, autoinflammatory diseases are best defined, in full, as “clinical disorders caused by defect(s) or dysregulation of the innate immune system, characterized by recurrent or continuous inflammation (elevated acute phase reactants-APR) and the lack of a primary pathogenic role for the adaptive immune system (autoreactive T-cells or autoantibody production).”

In addition, the group developed nine recommendations for naming various diseases in the autoinflammatory family, including:

  • Avoid changing the name of a disease where it the current name is appropriate;
  • Use the name of the gene involved in the disease when it is known, rather than the encoded protein, unless the name of the gene is not accurate or meaningless;
  • Include key clinical features;
  • Favor shorter names wherever possible; and
  • Use a name that is as clear as possible.

“The currently proposed rules for nomenclatures of [autoinflammatory diseases] are expected to allow a better organization of these groups of immune diseases,” Ben-Chetrit and colleagues wrote. “However, taxonomy is a dynamic process and some of the proposed names may be changed in the future as we gain a better knowledge about their pathogenesis. The proposed taxonomy may gain a broader consensus following an effective communication with other societies such as the International Union of Immunological Societies Expert Committee.” – by Jason Laday

Disclosure: Ben-Chetrit reports no relevant financial disclosures. Please see the study for all other authors’ relevant financial disclosures.