Indian Journal of Rheumatology

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Objectives: Familial Mediterranean fever is an autosomal recessive disorder characterized by recurrent attacks of fever and painful inflammatory manifestations in one or two sites. It is an ethnically restricted genetic disease, found commonly among Mediterranean population, as well as Armenians, Turks, Arabs and Jews. The disease is caused by mutations in the MEFV gene, encoding the Pyrin protein. The objective of this study was to identify the frequency of five common MEFV gene mutations in Iranian children with Familial Mediterranean fever. Methods: Thirty unrelated children with clinical manifestation of Familial Mediterranean fever from various parts of Iran were selected and screened for the most common 5 MEFV mutations (M694V, M694I, M680I, V726A and E148Q). Results: The most frequent mutation was M694V (53.3%), followed by M694I (23.3%) and E148Q (13.3%) muta- tions. We could not detect any mutations in 10% of our patients.

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Systemic sclerosis (Scleroderma, SSc) is associated with major mortality and morbidity that arises from the devel- opment of specific complications of the disease, including organ-based complications. The frequency and diverse nature of these complications makes systematic assessment and long-term follow-up essential to good manage- ment of SSc. This review will discuss the natural history of SSc, the predictors of progressive skin and internal organ involvement and current therapeutic management of these complications.

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Introduction: To study the pattern of neurological involvement in systemic lupus erythematosus (SLE) and its correlation with investigation, disease activity and response to treatment. Methods: This observational study was carried out from June 2007 to May 2008. Diagnosed cases of SLE (based upon ARA criteria) who present with neurological manifestations at the time of diagnosis or develop neurological manifestations anytime during the course of the disease were followed up for six months. Both prospective and retrospective cases were included. Results: Of the 35 patients with neurological manifestations of SLE, presenting to KEM hospital, Mumbai from the period of June 2007 to May 2008, 94% were females. The commonest age group was 20-29 years. Manifestations observed were seizures (66%), altered sensorium (20%), psychosis (9%), hemiparesis (9%), headache (6%), peripheral neuropathy (6%), depression (3%), cognitive decline (3%) and myelopathy (3%). With appropriate and adequate treatment, at the end of the study, 86% patients improved neurologically and in terms of SLE disease activity, while 11% died and 4% remained the same state neurologically. Conclusion: Neurological involvement in SLE is seen relatively early during the course of the disease and correlates with disease activity. It is commonly seen in patients with SLE who receive inappropriate and/or inadequate treatment.

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Catastrophic antiphospholipid syndrome is a life-threatening subset of antiphospholipid syndrome. It is defined by the involvement of at least three different organ systems over a period of days or weeks. This review focuses on the basic pathobiology and current concepts in the management of this rare but important disorder.

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Online since 29^th June, 2016