Effect of C282Y Genotype on Self-Reported Musculoskeletal Complications in Hereditary Hemochromatosis

OBJECTIVE: Arthropathy that mimics osteoarthritis (OA) and osteoporosis (OP) is considered a complication of hereditary hemochromatosis (HH). We have limited data comparing OA and OP prevalence among HH patients with different hemochromatosis type 1 (HFE) genotypes. We investigated the prevalence of OA and OP in patients with HH by C282Y homozygosity and compound heterozygosity (C282Y/H63D) genotype. METHODS: A total of 306 patients with HH completed a questionnaire. Clinical and demographic characteristics and presence of OA, OP and related complications were compared by genotype, adjusting for age, sex, body mass index (BMI), current smoking and menopausal status. RESULTS: In total, 266 of the 306 patients (87%) were homozygous for C282Y, and 40 (13%) were compound heterozygous. The 2 groups did not differ by median age [60 (interquartile range [IQR] 53 to 68) vs. 61 (55 to 67) years, P=0.8], sex (female: 48.8% vs. 37.5%, P=0.18) or current smoking habits (12.4% vs. 10%, P=0.3). As compared with compound heterozygous patients, C282Y homozygous patients had higher median serum ferritin concentration at diagnosis [1090 (IQR 610 to 2210) vs. 603 (362 to 950) µg/L, P<0.001], higher median transferrin saturation [80% (IQR 66 to 91%) vs. 63% (55 to 72%), P<0.001]) and lower median BMI [24.8 (22.1 to 26.9) vs. 26.2 (23.5 to 30.3) kg/m2, P<0.003]. The overall prevalence of self-reported OA was significantly higher with C282Y homozygosity than compound heterozygosity (53.4% vs. 32.5%; adjusted odds ratio [aOR] 2.4 [95% confidence interval 1.2-5.0]), as was self-reported OP (25.6% vs. 7.5%; aOR 3.5 [1.1-12.1]). CONCLUSION: Patients with C282Y homozygosity may be at increased risk of musculoskeletal complications of HH.

Alterações Hidro-Electrolíticas Induzidas por Ressecção Prostática Transuretral

A ressecção prostática transuretral (RTU) foi incriminada como causa de hiponatrémias graves por absorção macissa do soluto de irrigação (SI) vesical. Observámos 41 doentes submetidos a RTU, usando como SI Sorbitol Manitol (Grupo A), e 6 doentes usando água destilada (Grupo B). Um Grupo C, era constituído por 6 doentes operados por motivos não urológicos com intervenções com duração e anestesia semelhantes à RTU. Os três grupos foram estudados segundo um mesmo protocolo com colheitas de sangue antes (tempo 1), imediatamente após (tempo II) e 1 hora depois da intervenção(tempo III). A natrémia diminuiu significativamente nos 3 grupos do tempo 1 para o tempo II, em média 3,4mEq 1 com Manitol Sorbitol, 2,3mEq 1 com água destilada, e 4,4mEq 1 no grupo C. A osmolalidade não se alterou significativamente ao longo dos três tempos de colheita, o gap osmolar subiu do tempo 1 para o tempo II apenas no grupo A com Sorbitol Manitol. Em resumo, descidas moderadas no sódio sérico sem relevância clínica, e sem hipotonicidade, são frequentes post-RTU, mas não deverão ser superiores à restante cirurgia sem irrigação vesical.

Porokeratosis Ptychotropica of the Scrotum: Dermoscopic Evaluation of an Atypical Presentation

Porokeratosis ptychotropica is a rare variant of porokeratosis that is classically located on the gluteal and perianal regions, seldom extending to the genitalia. The authors report an atypical presentation of porokeratosis ptychotropica and discuss the use of dermoscopy in evaluating this dermatosis. Dermoscopic findings, although not specific to this variant of porokeratosis, are helpful in the differential diagnosis of other genital disorders. Histopathology, through the visualization of multiple cornoid lamellae, prevails as the gold standard for the definite diagnosis of porokeratosis ptychotropica.