Related ArticlesPAPA and FMF in two siblings: possible amplification of clinical presentation? A case report. Ital J Pediatr. 2019 Aug 23;45(1):111 Authors: Maggio MC, Ceccherini I, Grossi A, Gattorno M, Corsello G Abstract BACKGROUND: Familial Mediterranean Fever is a monogenic autoinflammatory disease, typically characterized by recurrent attacks of fever, serositis, aphthous of oral mucosa, erythema. "Pyogenic arthritis, pyoderma gangrenosum and acne syndrome" is a rare autoinflammatory disease with variable expression and typically involving joints and skin. Both the diseases are linked by the overproduction of IL-1. CASE PRESENTATION: We report on the case of two siblings affected by recurrent attacks of fever, oral aphthous stomatitis, abdominal pain, arthritis, undefined dermatitis at the hands, associated with increased AST, ALT, C-reactive protein, erythrocyte sedimentation rate, serum amyloid A, leucocytosis with neutrophilia. Infectious diseases were excluded. The genetic study for Familial Mediterranean Fever, tumor necrosis factor receptor-associated periodic syndrome, Mevalonate kinase deficiency, showed the homozygous mutation p.M680I of exon 10 in MEFV. Their parents were heterozygous for the same mutation p.M680I, however, the mother showed severe symptoms of FMF (recurrent attacks of fever, arthralgia and arthritis, abdominal pain, thoracic pain), the father showed recurrent pustulosis prevalent on the hands and limbs, with arthralgia and abdominal pain. Both the patients started colchicine, with an improvement in clinical manifestations and a reduction of serum amyloid A. For the atypical dermatologic signs present in the two siblings and in the father, the study of other autoinflammatory syndromes was performed with next generation sequencing and showed the heterozygous rare missense mutation of unknown significance: p.(Val408Ile) of PSTPIP1 gene in the two siblings and in the mother, the father was negative. Canakinumab treatment was started in the younger patient, with the resolution of the clinical symptoms and the normalization of serum amyloid A. CONCLUSIONS: Further studies are needed to better describe the correlation between genotype and phenotype in patients with PAPA syndrome and with PAPA syndrome associated with FMF, considering that the presence of mutations in both genes may amplify clinical presentation and evolution of both diseases.PMID: 31443670 [PubMed - indexed for MEDLINE]

Related ArticlesAtypical Familial Mediterranean Fever Presenting with Recurrent Migratory Polyarthritis. Intern Med. 2019 Nov 01;58(21):3185-3188 Authors: Iwata K, Toma T, Yachie A Abstract A 38-year-old Japanese man without any significant past medical history was referred to our clinic to undergo further examination for a "refractory infection in his joints". He suffered recurrent migratory polyarthritis starting from bilateral knees to his right elbow. Certain antibiotic therapies appeared to improve his symptoms, but the symptoms recurred due to the migratory nature of arthritis. A diagnosis of familial Mediterranean fever (FMF) was considered and diagnostic tests were performed. Not many differential diagnoses exist for migratory polyarthritis, particularly when it has a recurrent nature. The administration of antibiotics without sufficient diagnostic consideration can cause a delay in making an accurate diagnosis and thereby also cause a delay in administering appropriate treatment.PMID: 31292393 [PubMed - indexed for MEDLINE]

Related ArticlesUlceronecrotic Lesions in a Man with Familial Mediterranean Fever: A Quiz. Acta Derm Venereol. 2019 09 01;99(10):941-942 Authors: Toberer F, Hartmann M PMID: 31141153 [PubMed - indexed for MEDLINE]

Related ArticlesArterial stiffness in Familial Mediterranean Fever: correlations with disease-related parameters and colchicine treatment. Clin Rheumatol. 2019 Sep;38(9):2577-2584 Authors: Sgouropoulou V, Stabouli S, Trachana M Abstract INTRODUCTION/OBJECTIVES: Familial Mediterranean Fever is the most common autoinflammatory disease. As chronic inflammation may result in increased arterial stiffness, we aimed to investigate indices of arterial stiffness in patients with Familial Mediterranean Fever and their associations with disease-related factors and colchicine treatment. METHOD: The study was conducted with 43 patients with Familial Mediterranean Fever, including 30 children, in attack free period and 42 healthy controls. Arterial stiffness was assessed by carotid-femoral pulse wave velocity and augmentation index. RESULTS: Patients with Familial Mediterranean Fever presented similar carotid-femoral pulse wave velocity values to controls, but significantly higher augmentation index values (patients versus controls, 19.76% and 9.96%, P < 0.05). Augmentation index, adjusted for age and sex, was associated with complete response compared with partial response to treatment (B = - 17.78, 95% CI - 31.17 to - 4.40, P < 0.05) and the presence of M694V.M680I genotype (B = - 16.75, 95% CI - 33.81 to 0.30, P = 0.05). Carotid-femoral pulse wave velocity presented an inverse relationship with colchicine treatment duration (B = - 0.003, 95% CI - 0.006 to - 0.00, P < 0.05). Pulse wave velocity values adjusted for age and systolic blood pressure were associated with attack frequency (B = 0.48, 95% CI 0.01 to 0.96, P < 0.05). Addition of colchicine treatment duration to the model attenuated the association between carotid-femoral pulse wave velocity and attack frequency supporting the protective role of colchicine. CONCLUSIONS: The normal values of carotid-femoral pulse wave velocity in Familial Mediterranean Fever patients may reflect the compliance to colchicine treatment, which seems to have a protective role against arterial stiffness. However, the increased values of augmentation index need further investigation. KEY POINTS: • FMF patients are prone to present increased cardiovascular risk possibly due to inflammation. • Colchicine treatment may have protective role against arterial stiffness in FMF. • The normal values of cf-PWV in FMF patients may reflect the compliance to colchicine.PMID: 31127463 [PubMed - indexed for MEDLINE]