Angiodysplasia of the appendix: a diagnostic challenge and the importance of colonoscopy.

The case report discusses the challenges in diagnosing gastrointestinal bleeding of unknown origin, with angiodysplasia (AD) of the appendix being a rare cause. The report presents a case of a man in his late 60s who presented with vomiting, diarrhoea and rectal bleeding. As a result of the bleeding, the patient developed a type II myocardial infarction (MI), which had to be simultaneously managed further complicating the diagnostic process. Despite a normal CT angiogram, ongoing bleeding led to suspicion of AD, which was diagnosed using colonoscopy with limited bowel preparation. The patient underwent an open appendicectomy and was found to have AD of the tip of the appendix as the cause of the bleeding. The case highlights the limitations of CT angiography in haemodynamically unstable patients and subsequent importance of colonoscopy with bowel preparation in diagnosing rare causes of bleeding, even with limited bowel preparation, and the potential life-threatening consequences of untreated AD.

An atypical p.N215S variant of Fabry disease with end-stage renal failure.

Fabry disease is an X-linked metabolic disorder resulting in widespread deposition of Globotriaosylceramide within a variety of human tissues. The classical Fabry phenotype is one of early onset disease, with extensive tissue involvement resulting in acroparaesthesia, gastrointestinal disturbances, angiokeratoma, cornea verticillata renal failure, and cardiovascular disease. We describe two brothers exhibiting the GLA p.N215S mutation, a variant most often conferring a late-onset disease confined to the myocardium. The proband was diagnosed aged 34, following investigation into proteinuria. Despite Enzyme Replacement Therapy, he progressed to end-stage renal failure, and subsequently received a renal transplant. He also developed hypertrophic cardiomyopathy. His sibling however, whose disease was detected aged 32 following screening, exhibits mild left ventricular hypertrophy, and no evidence of renal disease. He remains clinically asymptomatic. This case report details a discordant phenotype in brothers with Fabry disease and p.N215S mutation. Despite the fact that in the majority of patients this mutation is associated with a late onset presentation with hypertrophic cardiomyopathy, we have clearly demonstrated that patients with GLA p.N215S mutation can present with the classical phenotype. Further studies are required to elucidate the underlying modifying factors that influence clinical presentation with a more severe phenotype.

Long-Term Therapeutic Plasma Exchange to Prevent End-Stage Kidney Disease in Adult Severe Resistant Henoch-Schonlein Purpura Nephritis.

A 27-year-old man presented with a palpable purpuric skin rash and joint and abdominal pain in April 2010. He had acute kidney injury and his creatinine quickly deteriorated to 687 µmol/L, with associated nephrotic range proteinuria. Kidney biopsy showed crescentic Henoch-Schonlein nephritis. He was treated with intravenous cyclophosphamide and prednisolone despite which his renal function deteriorated; he required haemodialysis for a short duration and seven sessions of therapeutic plasma exchange (TPE). Renal function improved, but after discharge from hospital he suffered 2 further relapses, each with AKI, in 4 months. Cyclophosphamide was not effective and therefore Rituximab was introduced. He initially had a partial response but his renal function deteriorated despite continued therapy. TPE was the only treatment that prevented rapid renal functional deterioration. A novel long-term treatment strategy involving regular TPE every one to two weeks was initiated. This helped to slow his progression to end-stage kidney disease over a 3-year period and to prolong the need for renal replacement therapy over this time.