Rheumatology Reports

A rare hereditary disease: Muckle-Wells syndrome

2017-01-19T13:57:56+00:00

Cryopyrin associated periodic syndrome (CAPS) is a dominantly-inherited autoinflammatory disease, which is included in the group of periodic fever syndromes. It is caused by a defect in the regulation of inflammatory cytokines, particularly interleukin-1β. CAPS encompasses a spectrum of three phenotypes of increasing severity: familial cold autoinflammatory syndrome, Muckle-Wells syndrome (MWS) and neonatal onset multisystem inflammatory disease. We report the case of a 58-year-old male, who had migratory joint pains, daily urticaria, chills, and episodic conjunctivitis since childhood and hearing loss in his 20s with a family history of similar symptoms. He was diagnosed with MWS after being found to have a R262W gene mutation in NLRP3 gene and successfully treated with canakinumab. After his discovery, other 1^st and 2^nd degree family members with similar complaints were found to have the same genetic mutation and were also successfully treated with canakinumab.

Pulsed radiofrequency therapy might be not inferior to thermal neurotomy in lumbar facet joint pain: a commentary

2017-01-19T13:57:54+00:00

The effects of pulsed radiofrequency treatment in low back pain was evaluated in a routine clinical setting and compared with thermal neurotomy of nerve structures of the facet joint. The treatment of 19 patients with lumbar facet joint pain was prospectively evaluated. Follow-ups were recorded at 6 weeks and 6 months after intervention. Patients with ≥50% pain relief following controlled diagnostic local anesthetic block underwent medial branch neurotomy with thermal continuous radiofrequency (CRF, n=16) or pulsed radiofrequency (PRF, n=3). Experiences between the two radiofrequency modes in the treatment of facet joint pain were recorded. In the overall population, a facet joint pain reduction of 23% at 6 weeks, 20% at 6 months and an improvement in various clinical scores was achieved. CRF and PRF appeared to be similarly effective in the treatment of facet joint pain, providing pain relief for at least 6 months. These observations should encourage pain researcher to design meaningful studies to further address this concept.

Successful treatment of neuro-Behçet’s disease with infliximab: four years follow-up

2016-05-18T16:24:17+00:00

Neuro-Behçet’s disease (NBD) is a rare but severe manifestation of Behçet’s disease. Patients with NBD tend to have high morbidity and mortality. Some patients do not respond adequately to conventional therapy (corticosteroids and immunosuppressants). This has led to treatment gaps in the therapy of NBD. There are reports in the literature of patients with Behçet’s disease responding to anti-TNF therapy. We present a case of a male patient with biopsy proven cerebral vasculitis presenting as NBD who has been in remission with near resolution of cerebral magnetic resonance imaging lesions for 4 years following treatment with infliximab and azathioprine.

Atypical femur fractures associated with bisphosphonates: from prodrome to resolution

2016-05-18T16:24:16+00:00

Atypical fractures related to the prolonged use of bisphosphonates are caused by low energy mechanisms and are characterized by oblique and transverse lines and frequent bilateralism. We present a clinical case of a patient who we believe illustrates, both in clinical and radiological aspects, the new definition of atypical femur fracture related to treatment using bisphosphonates treated conservatively and successfully with discharge and teriparatide 20 mcg/80 mcl s.c./24h. The appearance of painful symptoms in the upper thigh, especially if bilateral, in patients treated with bisphosphonates for long periods of time, makes it necessary to dismiss bone lesions that might otherwise suggest atypical fracture. In those cases where the fracture is incomplete, restoring bone metabolism through the administration of teriparatide 20 mcg/80 mcl s.c./24h could prevent displaced fractures.