Quality of life in patients with hereditary haemorrhagic telangiectasia (HHT).

BACKGROUND: There are very few studies about general quality of life parameters, standards for the description of health status and comparison with general population data on patients with Hereditary hemorrhagic telangiectasia (HHT), a rare disease in which epistaxis is a cardinal symptom. PURPOSE: To assess the quality of life in a population of Spanish patients with HHT and compare it with the general population. DESIGN AND METHODS: Between January 1st 2005 and December 31st 2013, 187 adult patients diagnosed with HHT who were admitted to the HHT Unit of the Hospital Sierrallana, completed on their first visit, the EuroQol 5D-3L (five dimensions and three levels) quality of life descriptive test and the visual analog scale (VAS). The numerical social index value was also determined and the subjective effect of the nasal epistaxis on their quality of life was estimated classified as mild, moderate or severe. RESULTS: Patients with HHT had greater problems than the general population in the five dimensions of the EuroQol 5D-3L, particularly considering pain/discomfort and anxiety/depression. In the VAS and the social index value, patients with HHT also scored lower than the general population, particularly older patients, males, and patients with HHT2. They also had values similar to those of populations with chronic illnesses. The subjective perception of the severity of epistaxis correlated strongly with the VAS and social index values. CONCLUSIONS: The quality of life of patients with HHT, estimated using the EuroQol 5D-3L scale, is affected across all dimensions. The scores are similar to those seen in cases of other chronic diseases. Older patients, males and the carriers of the ACVRL1 mutation generally have worse scores on these scales. The VAS and the social index value are index that correlate well with the severity of the clinical symptoms associated mainly with epistaxis.

[Prevalence of the A1555G MTDNA mutation in sporadic hearing-impaired patients without known history of aminoglycoside treatment]. / Prevalencia de la mutación A1555G del gen MTRNR1 en pacientes con hipoacusia postlocutiva sin antecedentes familiares de sordera.

INTRODUCTION: The A1555G mitochondrial DNA (mtDNA) mutation is responsible for maternally inherited non-syndromic hearing loss that is increased by aminoglycoside exposure. The objective of this study was to ascertain the frequency of the A1555G mutation among patients without family history of hearing loss or known exposition to aminoglycosides. METHODS: We screened for the mtDNA A1555G mutation in Spanish patients with sporadic sensorineural hearing impairment without a known family history of hearing loss or aminoglycoside exposition seen at the ENT Department in Sierrallana Hospital (Torrelavega, Cantabria, Spain) over a four-year period. RESULTS: A total of 219 patients with bilateral hearing loss were screened. Two of them (0.9%) had the A1555G mitochondrial DNA mutation. Both patients had a moderate bilateral sensorineural hearing loss for low frequency, and moderate to severe loss for high-frequency. CONCLUSIONS: The mtDNA A1555G mutation in patients with sensorineural hearing loss without family history of deafness or aminoglycoside ototoxicity is infrequent in our region. We should suspect this mutation in patients younger than 50 years old, with postlingual bilateral sensorineural hearing loss that is more pronounced at high frequency.