Related Experiment Video
Updated: May 10, 2026
06:48
Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
Published on: March 23, 2022
Schnitzler syndrome: an under-diagnosed clinical entity
Tania Jain1, Chetan P Offord, Robert A Kyle
1dingli.david@mayo.edu.
Haematologica
|July 2, 2013
Summary
Schnitzler syndrome, a rare disorder of chronic urticaria and monoclonal IgM protein, may be under-recognized. Anakinra therapy offers rapid symptom relief, suggesting improved patient outcomes.
Area of Science:
- Rheumatology
- Hematology
- Dermatology
Background:
- Schnitzler syndrome is a rare autoinflammatory disorder.
- It is characterized by chronic urticaria and a monoclonal immunoglobulin M (IgM) protein.
- The syndrome is associated with significant morbidity and may be under-recognized.
Purpose of the Study:
- To determine the true incidence of Schnitzler syndrome.
- To evaluate the effectiveness of anakinra therapy.
- To assess the long-term prognosis, including progression to lymphoma.
Main Methods:
- Retrospective search of dysproteinemia and chronic urticaria databases at Mayo Clinic.
- Comparison of patients diagnosed with Schnitzler syndrome versus those meeting criteria but undiagnosed.
- Analysis of treatment outcomes and survival data.
Main Results:
- Identified 16 diagnosed Schnitzler syndrome patients and 46 meeting criteria but undiagnosed.
- Monoclonal protein was IgMκ in 94% of cases.
- Anakinra therapy in 4 patients resulted in rapid and complete symptom resolution.
- Median overall survival exceeds 12.8 years.
- Progression to lymphoma observed in only 8% of patients.
Conclusions:
- Schnitzler syndrome may be under-recognized, affecting up to 1.5% of patients with monoclonal IgM.
- Anakinra is a highly effective therapy for Schnitzler syndrome.
- The syndrome has a better prognosis than previously reported, with a low rate of lymphoma progression.
Related Concept Videos
01:27Esophageal Achalasia
Esophageal achalasia is a chronic neurogenic disorder characterized by impaired relaxation of the lower esophageal sphincter (LES) and absent or ineffective peristalsis in the distal esophagus. This leads to a functional obstruction without a physical blockage, despite significant disruption of esophageal motility.EtiologyAchalasia is caused by degeneration of the myenteric (Auerbach's) plexus, specifically the loss of inhibitory ganglion cells that produce vasoactive intestinal peptide (VIP)...
01:24Nephrotic Syndrome I : Introduction
Nephrotic Syndrome is a chronic kidney disorder defined by clinical findings such as severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema. These symptoms result from damage to the glomeruli, the kidney’s filtering units, increasing their permeability to proteins.Definition and Meaning:Proteinuria, defined as the loss of more than 3.5 grams of protein per day in adults, is a crucial feature of nephrotic syndrome. This condition is often accompanied by edema, the accumulation of fluid...
01:17Schizophrenia
Schizophrenia, a term introduced by Swiss psychiatrist Eugen Bleuler in 1911, describes a severe psychological disorder marked by profound disruptions in attention, thought processes, language, emotion, and interpersonal relationships. The core feature of schizophrenia is psychosis — a state characterized by a fundamental detachment from reality. This disconnection manifests through distorted logic, impaired perception, and atypical behavior, severely affecting the lives of those diagnosed.
01:21Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation
Clinical manifestationsPeripheral Arterial Disease (PAD) manifests through a range of symptoms, from the characteristic intermittent claudication to atypical presentations and severe complications in advanced stages. Intermittent claudication, a hallmark symptom of PAD, presents as exercise-induced muscle pain that typically resolves within minutes of rest. This pain is reproducible and stems from inadequate blood flow, leading to the accumulation of lactic acid produced during anaerobic...
01:25Endocarditis II: Clinical Features of Infective Endocarditis
Endocarditis can present various clinical features depending on the causative organism and the patient's underlying health conditions. Initially, the clinical features of infective endocarditis develop gradually, presenting with nonspecific symptoms that can be easily mistaken for other illnesses.General SymptomsEarly symptoms of infective endocarditis are fever, chills, weakness, malaise, fatigue, and weight loss. These symptoms reflect the systemic nature of the infection and the body's...
01:29Gastroesophageal Reflux Disease II: Clinical Features and Management
Gastroesophageal reflux disease, or GERD, is a persistent medical condition that affects many individuals worldwide. Its clinical manifestations can vary greatly, making diagnosis and management challenging for healthcare professionals. The following is a comprehensive overview of the clinical manifestations, assessment, and management strategies for GERD.
Clinical Manifestations
GERD presents itself in a multitude of ways, with symptoms varying from person to person. The hallmark symptoms are...
Clinical Manifestations
GERD presents itself in a multitude of ways, with symptoms varying from person to person. The hallmark symptoms are...