Recurrent henoch-schonlein purpura in familial Mediterranean fever

Familial Mediterranean fever [FMF] is a relatively rare disorder, characterized by recurrent self-limited attacks of fever and polyserositis. Diagnosis is made by clinical features, gene identification on chromosome 16 and clinical response to specific treatment. Different types of vasculitis have been reported in FMF. Henoch-Schönlein purpura [HSP] is one of them, usually with a benign clinical course. Repeated attacks of HSP have been rarely reported in FMF. This is the report of a 7-year-old girl who presented initially with recurrent fever and abdominal pain. After the primary diagnosis of FMF and appropriate treatment, she experienced two documented repeated attacks of HSP with severe renal involvement [crescentic glomerulonephritis] and protracted abdominal pain in the second one. Glomerulonephritis was controlled by methyl-prednisolone pulse therapy plus oral corticosteroid and azathioprine, but abdominal pain was resistant to steroids and revealed completely by intravenous immunoglobulin [IVIg] administration. In conclusion, it is suggested to consider the recurrence of HSP in cases with FMF to prevent irreversible renal complications. IVIg seems to be a good choice for the management of intractable abdominal pain of HSP

TRAPS, un síndrome autoinflamatorio: Casos cínicos / Tumor necrosis factor receptor associated periodic syndrome (TRAPS): Report of two cases

Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS) is an autoinflammatory disorder associated to a mutation of the Tumor Necrosis Factor Receptor 1 (TNFR1) whose clinical presentation consists on recurrent episodes of prolonged fever, abdominal pain, myalgias, migratory cutaneous erythema, conjunctivitis or periorbitary edema. The diagnosis is confirmed by genetic analysis of the TNFR1 gene. Its main complication is amyloidosis and the treatment is based on the use of corticosteroids or anti-TNF antibodies. We report a 17 year-old male and 23 year-old female with the syndrome. Both cases had heterozygous mutations of the TNFR1 gene, C30R in the first case and T50M in the second case.

Familial Mediterranean Fever

Familial Mediterranean Fever is a genetic disorder frequently diagnosed among the Arabs. It is also prevalent among Jews, Armenians and Turks. The clinical picture consists of febrile and painful attacks that differ in quality across patients and even within the same patient. There may be accompanying joint pain, chest pain, skin manifestations and other findings, and amyloidosis may occur in some patients as a complication. The primary treatment is Colchicine, which decreases the frequency of the attacks and prevents the occurrence of amyloidosis. The gene responsible for Familial Mediterranean Fever, MEFV, has been mapped and cloned and mutations were identified within its coding sequence. It encodes a protein that is expected to be a down regulator of inflammation. The spectrum of mutations in the Arabic population is partially studied. There are still several issues to be solved before we fully understand the disorder, and to enable us to confront it and decrease the morbidity and mortality inflicted by it