Diagnosis of Mast Cell Activation Disease

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Description: Clinical data recording, scoring and diagnostic stratification

Publet Introduction:

Validated questionnaire that provides a guide to diagnostic assessment and classification of mast cell activation disease in a standardized manner (Developed from “A concise practical guide to diagnostic assessment for mast cell activation disease Lawrence B Afrin, Gerhard J Molderings,  World Journal of Haematology February 2014 ISSN 2218-6204”)


  Information
Guideline objectives

This diagnostic tool was developed to aid clinicians in considering a clinical diagnosis of mast cell activation disease, whether that is mastocytosis or mast cell activation syndrome and is based on the extensive patient data and experiences of Dr Afrin and Professor Molderings.

It is now understood that the various forms of systemic mastocytosis - diseases of inappropriate activation and proliferation of MCs seemingly driven by a small set of rare, usually constitutively activating mutations in assorted MC regulatory elements - comprise merely the tip of the mast cell activation disease (MCAD) iceberg, whereas the far larger and far more clinically heterogeneous (and thus more difficult to recognize) bulk of the iceberg consists of assorted forms of MC activation syndrome (MCAS) which manifest little to no abnormal MC proliferation and may originate from a far more heterogeneous set of MC mutations.

It is reasonable to suspect MCAD when symptoms and signs of MC activation are present and no other diagnosis better accounting for the full range of findings is present.

Whether assessing for mastocytosis or MCAS, testing is fraught with potential pitfalls which can easily yield false negatives leading to erroneous rejection of diagnostic consideration of MCAD in spite of a clinical history highly consistent with MCAD. Efforts at accurate diagnosis of MCAD are worthwhile, as many patients then respond well to appropriately directed therapeutic efforts.

Diagnosticians willing to pursue the possibility of MCAD in their patients whose chronic multisystem polymorbidity (often, but not always, of a generally inflammatory theme) has defied extensive prior diagnostic efforts (typically focused on subspecialty-oriented symptom subsets rather than broad multisystem considerations) currently face many challenges including controversies in precise diagnostic criteria (particularly for MCAS), uncertainty regarding the utility of various diagnostic tests, and difficulties properly managing specimens for such testing. Whether assessing for mastocytosis or MCAS, testing is fraught with potential pitfalls which can easily yield erroneous conclusions that MCAD is not present and thereby potentially add yet much more time and cost to the very long and expensive path most patients with MCAD (particularly MCAS) require to establish diagnosis, let alone effective therapy.

Target setting Demonstration only
Target users Specialist clinicians
Overview

Start application and complete patient data forms (indicated by tabs) according to available information. 

The "assessment tab" gives a summary of indicants that are suggestive of mast cell activation disease, with their scores. The "triage" tab indicates whether systemic mast cell mediator release syndrome is clinically verified.           

Provenance 7.No provenance has been assigned (default value)
Management
  • Author: Gawain Paling, John Fox
  • Release date: 2015-05-10
  • Status: Draft - Under Review
  • History: Edited on 14/4/2015
Safety case Not available
Sources

Developed from “A concise practical guide to diagnostic assessment for mast cell activation disease" Lawrence B Afrin, Gerhard J Molderings,  World Journal of Haematology February 2014

References

B Afrin, Gerhard J Molderings,  World Journal of Haematology February 2014 ISSN 2218-6204