( PDF ) Rev Osteoporos Metab Miner. 2018; 10 (1): 3-6 DOI: 10.4321/S1889-836X2018000100001 Sosa Henríquez M1,2,3, Gómez de Tejada Romero MJ2,4,5 1 Director de Revista de Osteoporosis y...Read More
( PDF ) Rev Osteoporos Metab Miner. 2017; 9 (4): 105-106 DOI: http://dx.doi.org/10.4321/S1889-836X2017000400001 Jódar Gimeno E Departamento de Endocrinología y Nutrición Clínica – Hospitales Universitarios Quirón Salud...Read More
Gaucher disease (GD) is a congenital fault of the metabolism due to a deficiency in the lysosomal enzyme glucocerebrosidase, also called acid beta glucosidase. This enzyme deficit results in the accumulation of non-metabolised substrate in the lysosomes of various cell lines of the monocyte-macrophage system. The deposit of non-degraded material, a glucocerebroside called glucosylceramide, is an intermediate metabolite in the synthesis and breakdown of glucosphingolipids. These macrophages laden with lipids, called “Gaucher cells” , are involved in the pathogeny of the disease1. GD is a sphingolipidosis, which constitutes the most frequent liposomal deposition disease. GD is a multiethnic disorder which is inherited in a recessive autosomic way1. The Gaucher Registry is the largest co-operative observational register in the world. Up to January 2007, 4,585 patients from 56 countries had been registered (www.gaucherregistry.com). It is estimated that there are currently around 300 diagnosed cases in Spain, although it is calculated that there are many more. In the majority of case, the molecular basis of the disease is made up of mutations in the gene GBA (Glucocerebrosidase beta acid) located in chromosome 1 (1q21) which codes for glucocerebrosidase. GD has three clinical forms, and in all of these there is bone, bone medullar and visceral affectation. The Neuronopathic Gaucher Disease Task Force of the European Working Group on Gaucher Disease classifies the disease as: type 1, or non-neuropathic; type 2, or acute neuropathic; and type 3, or chronic neuropathic2. Type 1 GD is the most common, making up 94% of all cases. Type 2 GD is the form called infantile cerebral. Type 3 GD is very rare and is only seen in the Norrbottnian region in the north of Sweden. For this reason we are always here refering to type 1 GD. GD, as with other rare diseases is characterised by being multisystemic. Notable among its multiple clinical manifestations are osteopenia, bone pain, bone fractures, anaemia, thrombopenia, haemorrhages, delayed growth, hepatomegaly, splenomegaly and changes in liver function tests. The prognosis of GD depends on the degree of affectation of these clinical manifestations. GD is a disease which starts in infancy but which is not usually diagnosed until the age of 16 years2. Even in those patients diagnosed as adults, the signs and symptoms begin in infancy3. This is why each patient is different in terms their age of presentation, symptomology, diagnosis and progression of the disease. Although there is a fulminant presentation form in infancy, the disease may be asymptomatic and diagnosed by chance in adults, in whom it usually takes an insidious and progressive course. Despite being treated as a hereditary disease, the diagnosis of type 1 GD is carried out in 74% of cases at an adult age. And 10% of cases of GD are even diagnosed at over 50 years of age. If it is not brought to mind, it is almost impossible to diagnose. It initially presents as a combination of symptoms such as bone pain, haematomas and asthenia. For this reason it is usually wrongly labelled as a non-specific viral infection, “growing pains”, a crisis of acute bone pain with local inflammation and/or fever with necrosis in the hip categorised as Perthes disease, accidental fractures, recurrent epistaxis due to non-specific alterations in coagulation and splenomegaly.Read More
On 14th November 1877, the British doctor James Paget presented to the Medical and Surgical Society of London five cases of a condition which was called “Osteitis Deformans”, a slowly developing bone disease characterised by the lengthening, softening and deformation of the bones, above all affecting the cranial bones and the long bones of the lower limbs. He published the first report in Medical-Surgical Transactions in 1877, in which he described in detail a man he had treated over a period of 20 years . He subsequently published, more cases in 1882 as well as saying that he had not known that Czerney had used the term “Osteitis Deformans” in 1873.Read More
Subclinical deficiency of vitamin D or vitamin D deficiency is prevalent throughout the world, and there is great variability depending on the geographic region, genetic factors and lifestyle considerations.
Moreover, researchers now believe that serum 25-hydroxyvitamin D (25OHD) levels are the best indicator of vitamin D, although there are methodological issues that limit comparability between studies and how to establish deficiency cutoffs.
There are several criteria to establish the optimal level of 25OHD, which include the degree of maximal suppression of PTH, the intestinal absorption of mediated calcium 1,25(OH)2 vitamin D or reduction of fractures. Regarding the former, several studies have analyzed 25OHD concentration required for maximum suppression of PTH and offer variable results. This has led some researchers and scientific entities to recommend 25OHD levels above 20 ng/ml (Institute of Medicine, IOM) while others advise over 30 ng/ml (Endocrine Society, International Osteoporosis Foundation). The application variable for these recommendations has generated considerable confusion in clinical practice.Read More
The paradox of vitamin D deficiency in sunny regions, in young people or in osteoporotic patients treated with vitamin D, could be explained by common genetic variations. Have we found the Rosetta Stone of this apparent contradiction?
The “epidemics” of rickets which devastated humanity appeared to have ended with the discovery of vitamin D at the start of the last century. However, severe and prolonged deficiency of vitamin D, with clinical manifestations of rickets and osteomalacia is rising again, above all in ethnic minorities, in Western countries1.
At present, vitamin D deficiency constitutes a pandemic which affects more than half the population of the whole world2, and is a significant factor in age-related loss of bone and muscle mass , falls and fractures2,3.
In addition, in developed societies, vitamin D deficiency is associated with a higher risk of degenerative and chronic diseases, such as autoimmune diseases: diabetes mellitus, multiple schlerosis; cancer: colon and breast; infectious diseases, such as tuberculosis and seasonal flu; cardiovascular diseases, cardiac insufficiency, hypertension, and acute myocardial infarction, and even a higher risk of cardiovascular death, or death by any other cause2,3. Although, the great majority of the studies are associative and not interventional, the biological plausability generated by knowledge of non-hormonal actions, intracrines and paracrines of the endocrine system of vitamin D, give consistency to the potential problem which, for the public health system, a deficiency or insufficiency of vitamin D may constitute3.
“Vitamin D” in circulation is made up of vitamin D3 and D2, the first mainly acquired by subcutaneous formation by ultraviolet B radiation, and in smaller qualities by ingesting the few natural dietary sources which contain it, as well as fortified foods or supplements, the second solely from these last two sources4. Once acquired, the vitamin D, and later its metabolites, are transported by means of a vitamin D transporter protein, also known as “gc-globulin (group-specific component)”, which also participates in transport within cells2,3.
In the liver, by the action of, above all, the microsomal enzyme CYP2R1, the “vitamin D” is converted in to 25 hydroxyvitamin D (calcifediol), the most stable and abundant metabolite, biomarker for the status of the organism of vitamin D2,3.
Clinical judgement, empirical, intuitive and based on experience, is one of the pillars of clinical decision-making. Along with clinical tests (“evidence”), and at an equal level, it serves to adapt what science offers to the individual patient. Osteoporosis is no exception. For years, we clinicians have used a long list of clinical risk factors, some modifiable, others not, to evaluate in each patient how much risk we must counteract with our interventions in a typical cost-benefit analysis.
The problem is that the quantification of this risk has been difficult. Other fields of pathology have preceded us in the search for formulae which permit us to calculate the risk of an individual patient becoming ill, attributing its relative weight, if they have it, to each of the factors which play a role in the determining the risk. In the case of osteoporosis, the risk of fracture.
Numerous scales have come to be constructed with this intention in recent years. Scales such as ORAI, Fracture Index, etc., have enjoyed limited approval their use was complex, or because their predictive capacity was (or was seen to be) limited.
Spain has one of the highest hospital costs relating to hip fracture, at 9,936 euros for an admission related to this pathology . To these economic-health costs we must add those arising in the patient’s environment and, above all, the non-quantitative costs arising from the changes in lifestyle and the loss of productivity which fragility fractures produce, both for the patient, as well as for their families, and for society as a whole. These are difficult to quantify, pending the results of the ICUROS and PROA  studies, which have estimating these costs as their objectives.
If we take into account the high number of hip fractures treated annually, 720 cases annually for every 100,000 people over 60 years of age, it is not difficult to understand the serious public health problem this represents. However, the true problem is not the financial costs, but in the personal cost which results, and which is translated into raised levels of morbimortality.
Hip fracture, the outcome of loss of femoral resistance, and in many cases, of a fall, is the most serious example of the complications of osteoporosis. Its treatment should be based on resolving the functional problem, improving the nutritional and metabolic state of the injured person, on avoiding new falls and trying to recuperate and reinforce the bone structure.
If these actions are not carried out diligently the clinical and life prognosis will become more serious.
Fracture of the hip is the most serious complication of osteoporosis, not only due to the morbimortality it entails but due to the social-health costs which it generates . However, in spite of this enormous impact, in practice the identification and treatment of osteoporosis and the adequate monitoring of those who have suffered a hip fracture is highly irregular .
In Spain, the use of antiosteoporotic medication is, in general and in the primary care setting in particular, higher in the group of women with an average age of 65 years. However, it is much lower in those at ages with a greater propensity to hip fracture [3,4]. Furthermore, in spite of the fact that the therapeutic arsenal for osteoporosis has increased notably in the last decade, the use of antiresorptive or osteoforming drugs after a hip fracture occurs is low, and has even reduced in countries such as the US .Read More
Primary health care (PHC) is the first point of contact for patients in the health care system and is key to the suspicion of osteoporosis in postmenopausal women (PMO), as well as in the approach to its diagnosis and treatment and the establishment of the risk of fracture.
Osteoporosis is the most common bone metabolic disease in our environment, representing a serious public health problem world-wide , and specifically in our country . The prevalence of osteoporosis determined by bone densitometry in the lumbar spine is especially high after the menopause [3,4]. It is estimated that in Spain, one in three women over 50 years of age suffer from osteoporosis, increasing to one in two for those over 70 years of age. Most of these patients are located in the 55-80 years age range [3,4], and it is estimated that 4% of those patients over 50 years of age with a hip fracture will die during hospitalisation, and 24% in the first year after fracture . Vertebral fracture is the most common, and that of the hip the most serious and with a greater cost to the health system, while there may also be other fragility fractures such as the distal radius, humerus, rib and tibia .Read More
The arrival of H2 inhibitors and later the proton-pump inhibitor (PPI) changed the clinical course of gastroesophageal disease, greatly reducing the rate of peptic ulcers and their complications. At present they are used in a high proportion of patients with diverse clinical situations . They are recommended to treat gastro-esophageal reflux, Helicobacter pylori, Zollinger-Ellison syndrome, duodenal ulcer, gastric ulcer and NSAID-induced peptic ulcer. Their proven benefits in preventing ulcers and encouraging good tolerance have led them to be considered as a popular, safe "gastric protector", with little adverse effects and used in many situations without indication.
But do not forget that the blockade of acid secretion by PPIs is the cause of some undesirable effects . Increased intestinal and systemic infections have been attributed to decreased gastric acid secretion and their bactericidal capacity. Other infections, such as pneumonia, are also more common among patients treated with PPIs. B12 production capacity and intestinal absorption may be reduced by malabsorption. A reduced of antiplatelet effect of clopidogrel therapy has also been described. Some cancers, especially colon cancer, could be more frequent. Finally, it is worth noting the increased risk of fracture in patients treated with long-term PPI. In this issue, a study by Vera Rodríguez et al.  on its possible association with increased fractures in the population of the Canary Islands is presented, confirming the increase in non-traumatic fractures in patients over 50 years undergoing long-term PPI treatment compared to those who have never taken these medications.Read More
The surgical management of patients with primary hyperparathyroidism (HP) has resulted in several advances in recent decades which have improved the surgical management of this pathology, notable among which are the techniques of preoperative localisation, the use of minimally invasive techniques and the intraoperative determination of PTH. In spite of these advances, a number of controversies persist in terms of the surgical indications for patients with HP .Read More