A descriptive pilot study of mitochondrial mutations & clinical phenotype in fibromyalgia syndrome

Background & objectives: Fibromyalgia syndrome (FMS) is one of the most common chronic pain conditions of unknown aetiology. Mitochondrial dysfunction has been reported in FMS with some studies reporting the presence of mitochondrial mutation namely A3243G, which also causes mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes. This pilot study was conducted to assess this mutation and also detect large deletions in mitochondrial DNA (mtDNA) in patients with FMS. Methods: Thirty female patients with FMS participated and 30 matched controls were included. Genomic DNA was subjected to polymerase chain reaction (PCR) amplification using specific primers followed by restriction digestion with Apa I enzyme to detect the specific A3243G mtDNA mutation. Long-range PCR was done in two sets to detect the large deletions in the mtDNA. Biochemical parameters including thyroid-stimulating hormone and vitamin D levels were also looked at. Results: None of the patients were found to carry the common mutation or large deletions. Low vitamin D level was a common finding. Hypothyroidism was found in a few patients. Interpretation & conclusions: Although the common mutation or large mtDNA deletions were not detected in blood mtDNA in the FMS patients, mutations in the muscle and sequence variation in mtDNA remained a possibility. Future studies in both blood and muscle tissue including mtDNA sequencing are warranted in such patients to determine if a subset of FMS patients have mitochondrial myopathy.

Immune responses to Epstein-Barr virus in individuals with systemic and organ specific autoimmune disorders.

Purpose: Autoimmune diseases usually manifest in genetically predisposed individuals following an environmental trigger. There are several viral infections including Epstein-Barr virus (EBV) implicated in the pathogenesis of autoimmune disorders. The aim of this study was to look at the antibody pattern to EBV proteins in the plasma of both systemic and organ specific autoimmune disorders, estimate pro-inflammatory plasma cytokines (IL-8 and TNF-á) among these autoimmune patients and compare the observations with those in normal healthy controls. Materials and Methods: Samples from 44 rheumatoid arthritis patients, 25 Hashimoto's thyroiditis patients, appropriately age and sex matched healthy controls were tested for EBV IgM antibodies by an immunoblot assay and two cytokines (IL-8 and TNF-á) by commercial assays. Results: Among the rheumatoid arthritis patients, 23 (52%) were positive for EBNA1 antibody, while 13 (52%) of the Hashimoto's thyroiditis patients and 12 (30%) of the healthy controls showed similar bands. The intensity of the bands was high in the autoimmune patients when compared to the bands seen in control samples. The difference in the EBNA1 reactivity between rheumatoid arthritis patients and controls were significant (P = 0.038). There was a significant difference in the IgM reactivity to VCAp19 protein between patients and controls (P = 0.011). Conclusion: Our study showed an increased EBV activation among the autoimmune patient groups compared to the normal healthy controls. Further studies are required to delineate the association between the aetiology of autoimmune disorders and EBV.

Systemic lupus erythematosis with antiphospholipid antibody syndrome: a mimic of Buerger's disease.

This case report is about a past smoker who presented with history of recurrent ulcers and digital gangrene with claudication pain of the left foot for the past fifteen years. Clinical examination and angiogram showed disease involving the peripheral vessels of lower limb. This patient had been labeled as Buerger's disease 15 years ago based on clinical and demographic profile of the illness. We felt that the progression of the disease despite the patient having stopped smoking 15 years ago along with the presence of elevated inflammatory markers in the blood with proteinuria was not in keeping with the nature of the disease. Further evaluation revealed that the patient had systemic lupus erythematosus with antiphospholipid antibody syndrome. This case highlights the need for a careful search for diseases, which can mimic Buerger's disease in young smokers who present with peripheral vascular disease and who have an atypical clinical presentation or progression.

Mycophenolate mofetil in neuropsychiatric systemic lupus erythematosus.

Neuropsychiatric abnormalities frequently occur in patients with systemic lupus erythematosus, affecting as many as 14-75% of people with this disease. High-dose steroid with or without anticoagulation is the mainstay of treatment in neuropsychiatric systemic lupus erythematosus (NPSLE). Use of mycophenolate as a steroid sparing drug may be a potential alternative agent in the therapy of NPLE, but lack of randomized trials and cost prohibit its widespread use. Its safety profile is higher than that of cyclophosphamide and azathioprine. We report a successfully treated case of neuropsychiatric systemic lupus erythematosus, presenting as psychosis, whose long-term remission was maintained on treatment with mycophenolate mofetil.

Enthesopathy: clinical recognition and significance.

Enthesopathy is a common clinical finding denoting pathology at the 'entheses', i.e. attachment sites of muscles, tendons, joint capsules, ligaments and fascia to the bone. Inflammatory enthesopathy or enthesitis is a sine qua non of seronegative spondyloarthropathies (SSA). It can also be occupational, metabolic, drug induced, infective or degenerative. Bursitis closely mimics enthesitis. Ultrasound with high frequency transducers is a simple, cost-effective and feasible test to detect enthesopathy which is amenable to treatment with local steroid injections, physiotherapy and non-steroidal anti-inflammatory drugs, in addition to treatment of the primary disease. Unrecognized and untreated, it can lead to considerable morbidity.

Unusual association of Kikuchi's disease and dengue virus infection evolving into systemic lupus erythematosus.

Kikuchi's disease is a histologically alarming self-limiting condition typically affecting the lymph nodes of young females. A 13-year-old girl was presented with fever, skin rash and cervical lymphadenopathy. On examination she was found febrile, mild pallor was present and she had lymphadenopathy. Liver was palpable. Cervical lymph node biopsy showed histiocytic necrotising lymphadenitis (Kikuchi's disease). Dengue virus serology for IgG blot showed evidence of seroconversion in serial samples. She was treated with antibiotics and fluconazole and cyclosporin A. During hospitalisation she developed retinal vasculitis. She was reviewed after one month and showed rashes of subacute cutaneous lupus erythematosus. This case can be described to be a triggering event by dengue viral infection causing abnormal immune response leading initially to Kikuchi's disease and later on to systemic lupus erythematosus.

Transient asceptic arthritis of knees in a patient with melioidosis.

Osteomyelitis and septic arthritis are known manifestations of melioidosis. Whether reactive arthritis can occur as a sequele to B. pseudomallei infection, is yet to be seen. As more and more cases of melioidosis will be reported in future, this aspect has to be kept in mind.