IntroductionRelapsing Polychondritis (RP) is a rare multisystem vasculitis characterised by recurrent cartilage inflammation. Respiratory involvement, of which tracheobronchomalacia (TBM) is the commonest form, is difficult to treat and is linked to increased mortality. We describe 13 patients with respiratory involvement.MethodsThis is a retrospective study of all the patients with RP at University Hospitals Coventry and Warwickshire NHS Trust (UHCW), a secondary care provider for ∼500 000. Only patients with respiratory involvement were included in this study.ResultsWe identified 13 patients who fulfilled the inclusion criteria. Most patients were identified from the “difficult asthma” clinic. TBM was seen in 11 patients, whilst 2 patients had pleural effusions which resolved with immunosuppression and 1 patient had small airways disease. CT scans (inspiratory and expiratory) and bronchoscopy findings were useful in diagnosing TBM. Pulmonary function testing revealed significant expiratory flow abnormalities. All patients were treated with corticosteroids/disease modifying anti rheumatic drugs (DMARDs) and some were given Cyclophosphamide or biological agents although the response to Cyclophosphamide (1 out of 4) or biologicals (2 out of 4) was modest in this cohort. Ambulatory continuous positive airway pressure (CPAP) ventilation was successful in 4 patients.ConclusionsRP may be overlooked in “difficult asthma” clinics with patients having TBM (not asthma) and other features of RP. Awareness of this condition is crucial to enable early diagnosis and interventions to reduce the risk of life threatening airway collapse. A number of patients respond well to DMARDs and are able to minimise corticosteroid use.
A 19 year old female presented to A&E with a three week history of nausea, vomiting and constipation. She was noted to have high serum calcium of 4.1mmol/L. There was no family history of note and prior to this illness she had been fit and well with no regular medications. Initial examination revealed a suprapubic mass thought to be a distended bladder. Hypercalcaemia and Gynaecological Malignancies: Hypercalcaemia is an uncommon occurrence in gynaecological malignancies, occurring in only 5% of ovarian cancers [4]. It is more common within the rarer ovarian cancer subtypes and indeed present in 66% of OSCCHT cases; mediated by parathyroid hormone related peptide [5]. This rare and aggressive tumour type affects young females and in half of cases has extra-ovarian spread at diagnosis [1]. OSCCHT shows a peak of cases in the third decade of life, with a median age of diagnosis of 24 years [6]. The commonest presenting complaints are of abdominal pain, weight loss and abdominal swelling [5]. First described in 1982, OSCCHT has until recently has evaded cytogenetic or molecular classification. In cases of OSCCHT a familial tendency for cases has long been recognised, with 1 in 2 women also having a first degree relative with cancer [5]. In 2014 the pathology 'enigma' was decoded after deletion mutations in the chromatin-remodelling gene SMARCA4 (encoding BRG1) were identified. This catalytic subunit is present in all eukaryotes and associated with the SWI/SNF complex that remodels chromatin, in order to regulate gene expression [7]. Germline and somatic mutations of this gene have been shown in further studies following its discovery [8,9]. This gene has been linked to various other human cancer types (including breast, prostate, lung, pancreas and colon) and is mutated in most rhabdoid tumours [10].
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