P0828 - A Case of Cyclic Vomiting-Like Syndrome Secondary to a Cryopyrin Gene Mutation Causing Interleukin-1 (Il-1) Overproduction: Durable Symptom Resolution With Anti Il-1β Therapy
Bridgette B. McNally, DO1, Tisha N. Lunsford, MD, FACG2, William L.. Hasler, MD3, Lucinda Harris, MD2, Rosita Frazier, MD2 1Mayo Clinic, Phoenix, AZ; 2Mayo Clinic, Scottsdale, AZ; 3Mayo Clinic Arizona, Scottsdale, AZ Introduction: Muckle-Well Syndrome (MWS) & Familial Cold Autoinflammatory Syndrome (FCAS) are Cryopyrin-associated periodic syndromes (CAPSs) due to mutations in NLRP3, causing defective inflammasomes and subsequent, periodic overproduction of IL-1, resulting in an inflammatory response causing neurologic, cutaneous, ophthalmologic, articular, & gastrointestinal manifestations. We present a unique case of a patient referred to GI clinic for cyclical vomiting who was ultimately diagnosed with MWS and FCAS.
Case Description/
Methods: A 40-year-old male presented to GI clinic for evaluation of severe, episodic nausea & vomiting. Episodes occurred every two weeks since childhood, associated with migraines, visual changes and rash, triggers included heat exposure. He was diagnosed with Cyclic Vomiting Syndrome.Symptoms progressed to fatigue, tremors, abdominal pain, vertigo, memory impairment, & vision loss . No cannabis use was reported.
Endoscopic evaluation was only notable for H. pylori on gastric biopsy which was successfully treated. A colonoscopy was normal. CRP, ANA, SPEP, cytokine panel, GAD65 Ab- were normal and there was no evidence of porphyria or heavy metal toxicity. Immunoglobulins levels revealed minimally low IgM. Biopsy of a skin lesion revealed subacute spongiotic dermatitis with a normal immunofluorescence. A multidisciplinary evaluation failed to reveal a unifying diagnosis.
Ultimately, genetic testing revealed heterozygosity in NLRP12 and NLRP3, consistent with CAP (MWS & FCAS). Canakinumab (anti IL-1β) was initiated with complete resolution of his gastrointestinal symptoms and drastic improvement in his systemic symptoms.
Discussion: CAPSs are a family of syndromes related to autosomal dominant & de novo mutations in NLRP3, resulting in periodic inflammatory responses due to overproduction of IL-1 with a prevalence of 1-3 per million persons. Manifestations are systemic, and patients may present with GI symptoms such as episodic abdominal pain and, in this case, also with episodic nausea and vomiting. These syndromes should be considered in patients presenting with episodic GI symptoms in addition to episodic systemic manifestations, as an adequate diagnosis is essential to provide targeted anti-IL-1 treatment, which can provide sustained relief and prevent further complications.
Disclosures: Bridgette McNally indicated no relevant financial relationships. Tisha Lunsford indicated no relevant financial relationships. William Hasler: Alimetry Ltd. – Grant/Research Support. Atmo Biosciences – Grant/Research Support. Enterra Medical – Advisory Committee/Board Member, Grant/Research Support. Lucinda Harris: Anyx – Grant/Research Support. Ardelyx – Consultant, Educational video. Gemelli Biotech – Advisory Committee/Board Member, Consultant. GI Health Foundation – Advisor or Review Panel Member. Rome – Member. Salix Pharmaceuticals – Consultant. Takeda – Grant/Research Support. Rosita Frazier indicated no relevant financial relationships.
Bridgette B. McNally, DO1, Tisha N. Lunsford, MD, FACG2, William L.. Hasler, MD3, Lucinda Harris, MD2, Rosita Frazier, MD2. P0828 - A Case of Cyclic Vomiting-Like Syndrome Secondary to a Cryopyrin Gene Mutation Causing Interleukin-1 (Il-1) Overproduction: Durable Symptom Resolution With Anti Il-1β Therapy, ACG 2025 Annual Scientific Meeting Abstracts. Phoenix, AZ: American College of Gastroenterology.
