Targeting the underlying pathophysiology in X-linked hypophosphatemic rickets in adults.

X-linked hypophosphatemic rickets (XLHR) is a life-long phosphate waste disorder that presents in early childhood with lower limb deformities, stunted growth, and bone and joint pain. In adults, osteomalacia and fractures may develop, aggravating bone and joint pain, stiffness, and disability. A 50-year-old woman with XLHR was referred to Rheumatology for incapacitating pain in her left lower limb with gait impairment. A pseudofracture was identified in the radiography of long bones, and secondary hyperparathyroidism was also observed. Treatment was optimized, and marked clinical improvement occurred. The authors review and discuss the underlying pathophysiology of this disease and its adequate management.

The many faces of IgG4-related disease: report of a case with inaugural recurrent aortic aneurism ruptures and literature review.

Vascular involvement in IgG4-related disease (IgG4-RD), is a well-recognized feature and large vessel commitment, especially the aorta, can be the only manifestation of the disease. Being a newly recognized disease, its diagnosis and workup still represents a challenge in clinical practice. A 47-year-old-man with two aortic aneurysms ruptures, one at abdominal and the other at thoracic level, was referred to our rheumatology department. The initial analysis of the surgical specimen obtained 3 years earlier revealed a nonspecific aortitis. Re-evaluation of the biopsy with immunohistology now demonstrated the presence of IgG4 deposits. Evidence-based recommendations regarding diagnosis, treatment and follow-up of IgG4-related large-vessel involvement are lacking. In this particular case, histopathology were crucial. The authors review and discuss vascular involvement in IgG4-RD and respective treatment options.

Unusual association between erythema nodosum and autoimmune atrophic gastritis.

We report a case of a 46-year-old woman with a history of autoimmune atrophic gastritis and recurrent erythema nodosum (EN). Laboratory results showed iron-deficiency anaemia, positive antiparietal cell antibodies and marginal deficiency of vitamin B12. Although EN was refractory to general measures (rest and non-steroidal anti-inflammatory drugs) and corticosteroid therapy, it was successfully treated with vitamin B12 supplementation.

Pachymeningitis and cerebral granuloma in granulomatosis with polyangiitis: is rituximab a promising treatment option?

Granulomatosis with polyangiitis (GPA) is a rare autoimmune disease characterized by granulomatous inflammation involving upper and lower respiratory tract, kidneys and peripheral nervous system. However, central nervous system involvement is uncommon and frequently refractory to classical therapy. Rituximab has emerged as promising alternative, but published reports are scarce. We report a case of pachymeningitis and cerebral granuloma in a patient with a history of severe generalized GPA, treated with rituximab. This case illustrates the complexity of the management of neurologic manifestations and provides insight into the potential utility of rituximab in this condition.

Primary Breast Lymphoma with cutaneous involvement in a patient with Rheumatoid Arthritis - a complication of infliximab therapy?

It is well established that rheumatoid arthritis is associated with an increased risk of lymphoma. The use of tumor-necrosis factor-α inhibitors as a therapy in rheumatoid arthritis has been related to higher incidence of lymphoma arising at atypical and/or unusual locations; however, recent data shows their safety. We report the case of a 79 year-old woman with rheumatoid arthritis treated with infliximab, who presented a primary breast lymphoma with cutaneous involvement.

A case of infliximab-induced lupus in a patient with ankylosing spondylitis: is it safe switch to another anti-TNF-α agent?

Anti-TNF-α therapies are the latest class of medications found to be associated with drug-induced lupus, a distinctive entity known as anti-TNF-α-induced lupus (ATIL) (Williams et al., Rheumatology (Oxford) 48:716-20, 2009; De Rycke et al., Lupus 14:931-7, 2005; De Bandt et al., Clin Rheumatol 22:56-61, 2003). With the widespread use of these agents, it is likely that the incidence of ATIL will increase. The onset of ATIL in patients with rheumatoid arthritis and Crohn's disease has been described, but the literature regarding the occurrence of this entity in patients with ankylosing spondylitis (AS) is scarce (De Bandt et al., Clin Rheumatol 22:56-61, 2003; Ramos-Casals et al., Autoimmun Rev 9:188-93, 2010; Perez-Garcia et al., Rheumatology 45:114-116, 2006). To our knowledge, few reports of switching anti-TNF-α therapy after ATIL in AS have been reported (Akgül et al., Rheumatol Int, 2012). Therefore, it is not clear whether the development of ATIL should prohibit switch to another therapy, since patients may respond to another anti-TNF-α agent (Akgül et al., Rheumatol Int, 2012; Bodur et al., Rheumatol Int 29:451-454, 2009; Mounach et al., Clin Exp Rheumatol 26:1116-8, 2008; Williams and Cohen, Int J Dermatol 50:619-625, 2011; Ye et al., J Rheumatol 38:1216, 2011; Wetter and Davis, Mayo Clin Proc 84:979-984, 2009; Cush, Clin Exp Rheumatol 22:S141-147, 2004; Kocharla and Mongey, Lupus 18:169-7, 2009). A lack of published experience of successful anti-TNF-α switching is a cause of concern for rheumatologists faced with this challenging clinical scenario. We report the case of a 69-year-old woman with AS who developed infliximab-induced lupus, which did not recur despite the subsequent institution of etanercept. The authors review and discuss ATIL and the possible implications for subsequent treatment with alternative anti-TNF-α agents.

Portuguese guidelines for the use of biological agents in rheumatoid arthritis - October 2011 update.

The authors present the revised version of the Portuguese Society of Rheumatology (SPR) guidelines for the treatment of Rheumatoid Arthritis (RA) with biological therapies. In these guidelines the criteria for introduction and maintenance of biological agents are discussed as well as the contraindications and procedures in the case of nonresponders. Biological treatment (with a tumour necrosis factor antagonist, abatacept or tocilizumab) should be considered in RA patients with a disease activity score 28 (DAS 28) equal to or greater than 3.2 despite treatment with at least 20mg-weekly-dose of methotrexate (MTX) for at least 3 months or, if such treatment is not possible, after 3 months of other conventional disease modifying drug or combination therapy. A DAS 28 score between 2.6 and 3.2 with a significant functional or radiological deterioration under treatment with conventional regimens could also constitute an indication for biological treatment. The treatment goal should be remission or, if that is not achievable, at least a low disease activity, defined by a DAS28 lower than 3.2, without significative functional or radiological worsening. The response criteria, at the end of the first 3 months of treatment, are a decrease of at least 0.6 in the DAS28 score. After 6 months of treatment res­ponse criteria is defined as a decrease greater than 1.2 in the DAS28 score. Non-responders, in accordance to the Rheumatologist's clinical opinion, should try a switch to another biological agent (tumour necrosis factor antagonist, abatacept, rituximab or tocilizumab).

[Acenocoumarol and vasculitis - a rare case]. / Acenocumarol e vasculite - um caso clínico raro.

The authors present a case of a man with 62 years of age who comes to the emergency room by purple skin lesions affecting the whole body, including palmar-plantar involvement, with insidious installation, with three weeks of development. Physical examination revealed multiple purple-shaping round and confluent lesions involving the entire body. Laboratory tests performed were all normal. During the admission a skin biopsy was performed. After exclusion of other causes for the purpuric lesions, the acenocoumarol was interrupted and the lesions disappeared, spontaneously, in a week. The purple was attributed to the administration of acenocoumarol, given the resolution of lesions, despite the chronicity of therapy. This case illustrates a rare association between vasculitis and acenocoumarol.

Portuguese guidelines for the use of biological agents in rheumatoid arthritis - March 2010 update.

The authors present the revised version of the Portuguese Society of Rheumatology (SPR) guidelines for the treatment of rheumatoid arthritis (RA) with biological therapies. In these guidelines the criteria for introduction and maintenance of biological agents are discussed as well as the contraindications and procedures in the case of non-responders. Biological treatment should be considered in RA patients with a disease activity score 28 (DAS 28) superior to 3.2 despite treatment with 20mg/week of methotrexate (MTX) for at least 3 months or, if such treatment is not possible, after 6 months of other conventional disease modifying drug or combination therapy. A DAS 28 score between 2.6 and 3.2 with a significant functional or radiological deterioration under treatment with conventional regimens could also constitute an indication for biological treatment. The treatment goal should be remission or, if that is not achievable, at least a low disease activity, characterized by a DAS28 lower than 3.2, without significative functional or radiological worsening. The response criteria, at the end of the first 3 months of treatment, are a decrease of 0.6 in the DAS28 score. After 6 months of treatment response criteria is defined as a decrease of more than 1.2 in the DAS28 score. Non-responders, in accordance to the Rheumatologist's clinical opinion, should try a switch to another biological agent (tumour necrosis factor antagonist, abatacept, rituximab or tocilizumab).

[Health-related quality of life and chronic pain experience in rheumatic diseases]. / Qualidade de vida e vivência da dor crónica nas doenças reumáticas.

OBJECTIVES: To assess differences among health-related quality of life, pain threshold and perception,and passive coping strategies with chronic pain(specifically retreating, worrying, and resting), as well as associations among variables in three groups of rheumatic patients - fibromyalgia (FM),rheumatoid arthritis (RA), and osteoarthritis (OA). MATERIAL AND METHODS: 86 participants diagnosed with FM (n = 25), RA (n = 31) and OA (n = 30) completed the following measures: Clinical and Sociodemographic Questionnaire (QSDC), Medical Outcomes Study 36-item Short Form Health Survey(SF-36v2), Pain Coping Inventory (PCI), visual analogic scale (VAS) for pain, and dolorimeter for threshold pain. SPSS software was used to perform statistical analyses. RESULTS: FM patients reported the lowest levels of quality of life and threshold pain, as well as the highest levels of pain perception and passive coping with chronic pain. Associations between variables support that experience with chronic pain is managed more successfully in OA patients, followed by RA patients and, finally, by FM patients. CONCLUSIONS: Our findings support the adoption ofa biopsychosocial model for assessment and intervention with rheumatic patients, considering specificities associated to each illness.

[Secondary amyloidosis and systemic lupus erythematosus]. / Amiloidose secundária e lúpus eritematoso sistémico.

The authors report a clinical case of a 57 years old woman with systemic lupus erythematosus diagnosed 25 years before and secondary amyloidosis. Secondary amyloidosis can be associated with inflammatory or infectious chronic diseases, however the association with systemic lupus erythematosus is rare. We discuss the association between the two entities.

[Lofgren syndrome: the relevance of the chest X-ray]. / Síndrome de Löfgren: a importância da radiografia torácica.

Sarcoidosis is a systemic granulomatosis of unknown origin characterized by a formation of non-caseating granulomas in multiple organs, which can present as a chronic, sub acute or an acute form. Löfgren's syndrome is an acute form of sarcoidosis characterized by the presence of arthritis/arthralgia, eritema nodosum lesions and hilar lymphadenopathy. The authors present 3 case reports of arthritis/ /arthralgia and eritema nodosum lesions in 3 young patients in which the diagnosis was Löfgren's syndrome. The radiological findings were essential for the final diagnosis, especially in the presence of a normal value of serum angiotensin-converting enzyme.

[An unusual case of generalized pain: paramyloidosis simulating fibromyalgia]. / Um caso invulgar de dor generalizada: paramiloidose simulando fibromialgia.

The authors report a case of a 52-year old female previously followed at the Outpatient Rheumatology Clinic with the diagnosis of Fibromyalgia (FM). Approximately 2 years after this diagnosis, she presents with a 2nd degree burn in a hand, as a result of thermal hypoesthesia. The patient described hipostesia of the distal upper and lower limbs, incontinence of the anal sphincter and chronic diarrhoea with progressive worsening. The electromiography showed sensory-motor axonal polyneuropathy, chronic, moderate to severe. The muscle and nerve biopsy showed deposition of amyloid substance. The search for TTR Met 30 was positive, confirming the diagnosis of familial amyloidotic polyneuropathy. This is the first reported case of familial amyloidotic polyneuropathy as part of the differential diagnosis of fibromyalgia.