Patient with clinical celiac disease mimicking triple‐negative essential thrombocythemia

• Published in: Clinical case reports Vol. 10; no. 4; pp. e05197 - n/a
• Main Authors: Ali, Elrazi A., Mushtaq, Kamran, Abdelmahmuod, Elabbass, Yassin, Mohamed A.
• Format: Journal Article
• Language: English
• Published: England John Wiley & Sons, Inc 01-04-2022; John Wiley and Sons Inc; Wiley
• Subjects: Abdomen; Anemia; Antibodies; Biopsy; Blood cancer; Blood platelets; Bone marrow; Case Report; Case reports; Celiac disease; Conflicts of interest; Consent; Diet; essential thrombocythemia; Gluten; Hemoglobin; Iron; Lymphoma; Medical screening; Mutation; Myelodysplastic syndromes; Patients; Small intestine; thrombocytosis; triple‐negative ET; thrombocytosis; celiac disease; essential thrombocythemia; triple‐negative ET
• ISSN: 2050-0904; 2050-0904
• DOI: 10.1002/ccr3.5197

Platelets are acute‐phase reactants, which can be elevated due to a secondary cause or less commonly because of a primary mechanism. Primary disorders include hematological conditions such as myelodysplastic syndrome, acute myeloid leukemia, chronic myeloid leukemia, polycythemia vera, and essential thrombocythemia (ET). Most ET patients have a mutation in the genes regulating thrombopoiesis, JAK2, CALR, or MPL genes. But 10%–15% of ET patients are triple‐negative, where patients have no detectable mutation. We report a young patient with no significant past medical history evaluated for persistent thrombocytosis. She was initially diagnosed as triple‐negative ET based on a bone marrow biopsy. She had positive antibodies for celiac disease, and the diagnosis was confirmed by a small bowel biopsy, which is confirmatory for diagnosing celiac disease in adults. We recommend screening triple‐negative ET patients for celiac disease before going to more expensive tests.
Triple‐negative ET patients should be screened for celiac disease before doing more sophisticated studies such as gene sequencing or more invasive tests such as bone biopsy. This may reveal underdiagnosed celiac patients and avoid related complications.