The UK prevalence of hereditary haemorrhagic telangiectasia and its association with sex, socioeconomic status and region of residence: a population-based study.

BACKGROUND: Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant genetic disorder of aberrant blood vessel development characterised by arteriovenous malformations. HHT is associated with significant morbidity due to complications including epistaxis, gastrointestinal bleeding and stroke. We explored the hypothesis that a diagnosis of HHT is associated with sex, socioeconomic status and geographical location. METHODS: We used The Health Improvement Network, a longitudinal, computerised general practice database covering 5% of the UK population to calculate prevalence estimates for HHT stratified by age, sex, socioeconomic status and geographical location. RESULTS: The 2010 UK point prevalence for HHT was 1.06/10 000 person years (95% CI 0.95 to 1.17) or 1 in 9400 individuals. The diagnosed prevalence of HHT was significantly higher in women compared with men (adjusted prevalence rate ratio (PRR) 1.53, 95% CI 1.24 to 1.88) and in those from the most affluent socioeconomic group compared with the least (adjusted PRR 1.74, 95% CI 1.14 to 2.64). The PRR varied between different regions of the UK, being highest in the South West and lowest in the West Midlands (adjusted PRR for former compared with latter 1.86, 95% CI 1.61 to 2.15). CONCLUSIONS: HHT prevalence is more common in the UK population than previously demonstrated, though this updated figure is still likely to be an underestimate. HHT appears to be significantly under-diagnosed in men, which is likely to reflect their lower rates of consultation with primary care services. There is under-diagnosis in patients from lower socioeconomic groups and a marked variation in the prevalence of diagnosis between different geographical regions across the UK that requires further investigation.

Myocardial stunning secondary to aneurysmal subarachnoid hemorrhage.

BACKGROUND: Although subarachnoid hemorrhage (SAH) is often associated with electrocardiographic abnormalities, profound effects on cardiac performance are rare. CASE DESCRIPTION: A 57-year-old woman who developed loss of consciousness, respiratory distress, severe hypotension, and left ventricular hypokinesis with minimal coronary artery disease is described. Despite normal appearance of the coronary arteries on angiography, left ventricle function was so severely depressed that she required intra-aortic balloon pump support for 24 hours. Mental status changes prompted a head computed tomographic (CT) scan, which showed severe SAH and an intraventricular hemorrhage (IVH). Cerebral angiography demonstrated a basilar apex aneurysm. An echocardiogram done on hospital day 6 was normal. A left frontal ventriculostomy catheter was placed. This was later changed to a lumbar subarachnoid (SA) drain. The patient underwent an orbito-zygomatic craniotomy and aneurysm clipping. Although several serious medical problems occurred during her hospitalization, at follow-up, her sole neurological impairment was a minimal and resolving oculomotor paresis. CONCLUSION: This patient's respiratory failure and severe hypotension were initially thought to be due to a chemical pneumonitis or a cardiomyopathy. However, her symptoms ultimately proved to be secondary to a ruptured basilar apex aneurysm. The complex relationship of SAH to myocardial stunning, as illustrated by this patient, is discussed.

Arachnoid cyst rupture with concurrent subdural hygroma.

Arachnoid cysts (ACs) are relatively common intracranial mass lesions, which occur most often in the middle cranial fossa. While these lesions can present as a mass lesion, many are asymptomatic. Rarely, posttraumatic or spontaneous rupture of ACs can result in intracystic hemorrhage, subdural hematoma or subdural hygroma. We have encountered two cases of ruptured arachnoid cysts that resulted in subdural hygromas. Both patients harbored middle cranial fossa cysts and suffered mild closed head injuries. The presentation, radiographic findings and surgical management of these patients as well as the association between ACs and subdural hygromas are described.

A chondropathy of the pinna in rabbits associated with rabbit haemorrhagic disease.

AIMS: To investigate the relationship between loss of parts of the pinna in rabbits and rabbit haemorrhagic disease (MD). METHODS: A case-control study design was employed. Rabbits with ear lesions were shot on farms in various locations in the South Island of New Zealand. For each case, an attempt was made to obtain a sex and size-matched control rabbit from the same farm on the same day. Serum samples were collected immediately after shooting. The serum samples were tested for RHD titres from 1:lO to 1:640. A selection of affected ears was examined histologically. Odds ratios and their 95% confidence intervals were calculated to assess the relationship between ear loss and RHD antibody status at various serological cut-off levels. RESULTS: Affected ears were characterised by firm cartilaginous nodules and ridges, folding of the ear or loss of pinna to form a notch or complete loss of the outer pinna from about 052.0 cm above the intertragic notch. Histological changes in affected ears consisted mostly of focal mineralisation in the auricular cartilage, proliferation of cartilaginous tissue and loss of cartilage. The serological findings showed a significant association between rabbits with ear lesions and elevated RHD titres. CONCLUSION: The loss of the outer pinna in the rabbits under study was due to degenerative and hyperplastic changes in the auricular cartilage with distortion of the pinna, withering and loss of the outer pinna. The serological findings suggests that RHD is a likely factor in the development of the ear lesions.