Related Experiment Video

Updated: Jul 26, 2025

Humanized Mediator Release Assay as a Read-Out for Allergen Potency
10:22

Humanized Mediator Release Assay as a Read-Out for Allergen Potency

Published on: June 29, 2021

3.6K

Histamine elevation in familial Mediterranean fever: A study from the Juvenile Inflammatory Rheumatism cohort

Nabiha Sbeih1, Rim Bourguiba2, Nadia Hoyeau-Idrissi3

  • 1Department of Internal Medicine, National Reference Centre for Auto-inflammatory Diseases and inflammatory Amyloidosis (CEREMAIA), Tenon Hospital, AP-HP, Paris, France; Sorbonne Université, Inserm U938, Paris, France; Laboratory of Molecular mechanisms of Hematological disorders and therapeutic implications, INSERM U1163 and CNRS ERL 8254, Fondation Imagine, Paris, France.

European Journal of Internal Medicine
|June 22, 2023
PubMed
Abstract

Insights

Familial Mediterranean Fever (FMF) patients frequently exhibit symptoms of mast cell (MC) activation, with elevated histamine levels observed in blood and urine. This suggests a potential role for MCs in FMF pathophysiology, even with colchicine treatment.

Area of Science:

  • Immunology
  • Genetics
  • Gastroenterology

Background:

  • Familial Mediterranean Fever (FMF) is a common monogenic autoinflammatory disease (AID).
  • Persistent symptoms can occur in FMF patients despite colchicine therapy.
  • Mast cells (MCs) are innate immune cells implicated in inflammatory conditions, including AIDs, and their activation contributes to symptoms like abdominal pain.

Purpose of the Study:

  • To investigate systemic mast cell (MC) activation features in adult patients with Familial Mediterranean Fever (FMF).

Main Methods:

  • Adult FMF patients completed an MC activation survey.
  • MC mediators (tryptase, histamine) were measured in blood and urine.
  • FMF patients were compared to healthy controls (HC) and systemic mastocytosis (SM) patients.
  • Digestive mucosal MC infiltration was analyzed in FMF, SM, Crohn's disease (CD), and normal biopsies.

Main Results:

  • 70% of FMF patients reported MC activation symptoms, compared to 32% of HC (p=0.0006).
  • 68% of FMF patients had elevated MC mediators, primarily whole blood histamine (43%) and urinary histamine (32%), significantly higher than HC.
  • Digestive MC infiltration in FMF was comparable to CD and normal biopsies, but lower than in SM.

Conclusions:

  • FMF patients frequently display MC activation symptoms and elevated blood/urinary histamine levels, a novel finding.
  • These results suggest mast cells (MCs) and potentially basophils play a role in FMF pathophysiology.
  • Further research into MC involvement may offer new therapeutic avenues for FMF patients with persistent symptoms.
Keywords:
BasophilsFamilial Mediterranean feverHistamine, Mast cellsMast cell activation

More Related Videos

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

10.2K
Precision Implementation of Minimal Erythema Dose MED Testing to Assess Individual Variation in Human Inflammatory Response06:31

Precision Implementation of Minimal Erythema Dose MED Testing to Assess Individual Variation in Human Inflammatory Response

Published on: October 3, 2019

8.7K

Related Concept Videos

Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies01:22

Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies

The key clinical manifestations of Rheumatic heart disease (RHD) include several distinct cardiac symptoms.Carditis, a hallmark of acute rheumatic fever, involves inflammation of the heart's endocardium, myocardium, and pericardium. Chronic RHD often results from recurrent episodes of carditis. Its symptoms include the following:Murmurs are caused by valvular damage, especially to the mitral and aortic valves. Mitral stenosis or regurgitation is common, with characteristic heart murmurs...
38
Antiasthma Drugs: Mast Cell Stabilizers and Anti-IgE Drugs01:25

Antiasthma Drugs: Mast Cell Stabilizers and Anti-IgE Drugs

Asthma is a chronic respiratory condition for which new therapeutic avenues, including anti-inflammatory drugs like mast cell stabilizers and anti-IgE treatments, continue to be developed.
Mast cell stabilizers, such as cromolyn (also known as sodium cromoglycate) and nedocromil (Tilade), are effective drugs in asthma management. These stabilizers hinder histamine release by skillfully obstructing the activation of mast cells and other cellular entities. Notably, they navigate this task without...
357
Rheumatic Heart Disease I: Introduction01:23

Rheumatic Heart Disease I: Introduction

Rheumatic heart disease or RHD is a chronic condition that results from rheumatic fever, causing permanent damage to the heart valves.Etiology and Risk FactorsIt primarily arises from rheumatic fever, an inflammatory disease that can develop after untreated or inadequately treated group A streptococcal (GAS) pharyngitis. Streptococcus spreads through direct contact with oral or respiratory secretions. While the bacteria are the causative agents, factors like malnutrition, overcrowding, poor...
17
Myocarditis II: Clinical Features and Diagnostic Tests01:27

Myocarditis II: Clinical Features and Diagnostic Tests

Myocarditis is an inflammation of the heart muscle. The symptoms vary widely, encompassing asymptomatic presentations to severe, acute manifestations.Clinical PresentationAsymptomatic cases: In some instances, myocarditis may be asymptomatic, with the infection resolving without intervention. These cases often go undetected unless discovered incidentally through diagnostic imaging or tests conducted for other reasons.General Early Symptoms: Early symptoms of myocarditis are non-specific and can...
12
Asthma-IV: Diagnostic and Management01:30

Asthma-IV: Diagnostic and Management

The diagnosis and management of asthma are comprehensive, encompassing clinical assessments, lung function tests, and pharmacological interventions. Here's an overview:
Clinical Assessment for Asthma:
This is the first step in diagnosing and managing asthma. It includes:
2.5K
Rheumatic Heart Disease III: Medical Management01:21

Rheumatic Heart Disease III: Medical Management

Rheumatic heart disease (RHD) management can be divided into two main strategies: prevention and long-term management.Primary PreventionPrimary prevention focuses on timely diagnosis and management of group A streptococcal pharyngitis to prevent acute rheumatic fever. The most widely used antibiotic for treating this condition is intramuscular benzathine penicillin G.Acute Rheumatic Fever TreatmentThe primary treatment goal for a patient diagnosed with acute rheumatic fever is to suppress the...
22