First case of very late-onset FHL2 in Spain with two variants in the PRF1 gene.

Hemophagocytic lymphohistiocytosis (HLH) is a rare but fatal disorder characterized by the proliferation and infiltration of macrophages and hyperactivated T lymphocytes that escape from the physiological control pathways and favour the existence of an environment of excessive inflammation and tissue destruction. HLH has been classified into two types: a primary or familial autosomal recessive form, caused by mutations in genes encoding proteins involved in the granule-dependent cytotoxic pathway (familial hemophagocytic lymphohistiocytosis [FHL] types 1-5); and other secondary or acquired form, generally associated with infections, malignancy, autoimmune diseases, metabolic disorders or primary immunodeficiencies. Since the first familial hemophagocytic lymphohistiocytosis-2 (FHL2) causative mutation in the PRF1 gene was described in 1999, more than 200 mutations have been identified to date. Here, we report the first case of very late-onset FHL2 in a Spanish 72-year-old female with splenomegaly, hypertriglyceridemia, hypofibrinogenemia, pancytopenia and marrow hemophagocytosis harbouring in heterozygosity two PRF1 variants proposed as causative in this study. The heterozygous mutation c.445G>A (p.Gly149Ser) identified in the exon 2 results in a missense mutation previously described as a probable pathogenic variant associated with the development of FHL2. Affecting the same exon, c.272C>T (p.Ala91Val) is the most prevalent variant of this gene. Although it was initially classified as benign, recent studies support its potential pathogenic role, considering it a variant of uncertain significance associated with a risk of developing FHL2. The genetic confirmation of FHL made possible an adequate counselling to the patient and direct relatives and provided important information for her control and follow-up.

Intragastric balloon placement for the management of obesity: improving patient selection.

OBJECTIVE: Review and determination of ideal characteristics for the management of obesity by intragastric balloon, in Monterrey, Mexico. METHOD: Retrospective analysis of 152 patients, with overweight and obesity from January 2009 to December 2015, to whom an intragastric balloon was placed. Demography, weight loss, decrease in body mass index (BMI) and complications were analyzed. The objective was to determine the group of patients that will benefit the most after endoscopic intragastric balloon placement. RESULTS: A sample of 120 women and 32 men was analyzed. As expected, greater weight loss was observed in patients with BMI > 40 (n = 10, 6.57%, m = 26.29 ± 5.69; p = 0.001) and the lowest in patients with a BMI < 29.9 (n = 24, 15.78 %). Greater satisfaction was detected among patients with an average loss of 15.24 ± 2.75 kg (p < 0.001), and greater indifference among patients with greater losses. There is a tendency among women towards dissatisfaction. CONCLUSIONS: The greatest weight loss was observed among patients with a BMI > 40, although the highest satisfaction was observed among men with an average BMI of 32, which is why we recommend the procedure for these patients. We consider it to be an excellent bridge procedure for patients with BMI > 50.

OBJETIVO: Revisión y determinación de las características ideales para el manejo de la obesidad por medio de balón intragástrico, en Monterrey, México. MÉTODO: Análisis retrospectivo de 152 pacientes, con sobrepeso y obesidad, de enero de 2009 a diciembre de 2015, a quienes se colocó un balón intragástrico. Se analizaron la demografía, la pérdida de peso, la disminución del índice de masa corporal (IMC) y las complicaciones. El objetivo fue determinar el grupo de pacientes que mejores resultados obtendrán tras la colocación del dispositivo por endoscopia. RESULTADOS: Se obtuvo una muestra de 152 pacientes, 120 mujeres y 32 hombres. Como era de esperar, se observó la mayor pérdida de peso en los pacientes con IMC > 40 (n = 10, 6.57%, m = 26.29 ± 5.69; p = 0.001) y la menor en los pacientes con IMC < 29.9 (n = 24, 15.78%). Se detectó una mayor satisfacción en los pacientes con una pérdida promedio de 15.24 ± 2.75kg (p < 0.001), y mayor indiferencia en los pacientes con mayores pérdidas. Se observa una tendencia en las mujeres hacia la insatisfacción. CONCLUSIONES: La mayor pérdida de peso se observó en los pacientes de IMC > 40, aunque la mayor satisfacción se observó en los hombres con IMC promedio de 32, por lo que lo recomendamos para estos pacientes. Consideramos que es un excelente procedimiento puente para pacientes con IMC > 50.