Revista de Osteoporosis y Metabolismo Mineral

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Category: 2

Bone pathology of Gaucher disease

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.

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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.

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Factors related to vitamin D deficiency in students of medicine in Gran Canaria

Introduction: The bone-related and non bone-related functions of vitamin D are becoming better known by the day. As a result, levels of 25 hydroxyvitamin D (25-HCC) above 30 ng/mL are considered optimum.
Objectives: To study in a population of medical students in Gran Canaria what nutritional and lifestyle factors are associated with high levels of 25-HCC.
Material and method: A transverse study carried out in 98 Medical students of both sexes at the University of Las Palmas de Gran Canaria. All completed a questionnaire about their lifestyles and nutritional habits. A general physical examination was carried out and blood in fasting was taken to determine various biochemical parameters, including markers for remodelled bone, PTH and 25-HCC. In addition, bone mineral density was determined by dual X-ray absorptiometry and using ultrasound parameters in the calcaneum.
Results: We did not find statistically significant differences between thestudents who had levels of 25-HCC higher than 30 ng/mL and those with levels below this figure, in any of the variables studied, with the exception of male sex and the consumption of vitamin supplements.
Conclusions: Male gender in students of medicine in Gran Canaria, and the consumption of vitamin supplements, are associated with levels of vitamin D lower than 30 ng/mL.

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The debate over the FRAX scale

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.

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The prevalence of vertebral fractures in patients attending Internal Medicine outpatient clinics

Background: Fractures are a clinical complication of osteoporosis, and among them vertebral fractures (VF) are the most frequent. This type of fracture is often asymptomatic or happens unnoticed and is not diagnosed.
Objective: To study the prevalence of previously non-diagnosed vertebral fractures in a population of post menopausal women over 50, who have attended an Internal Medicine outpatient clinic because of chronic back pain.
Material and methods: 273 women participated in the study, which comprised a group of cases (Group I) and a control group (Group II). Group I consisted of 202 post-menopausal women who had chronic back pain at the time they attended one of 13 Internal Medicine outpatient clinics across Spain. Group II was made up of 71 women who did not have back pain, and who were used as controls. To register any risk factors for osteoporosis, and any clinical symptoms, a questionnaire, previously validated and used in other similar clinical studies by SEIOMM members, was completed for all the female patients. A lateral thoracic and lumbar X-ray was also carried out on all female patients. The interpretation of the X-rays was done centrally. The Genant criteria for vertebral deformity were used for the diagnosis of the vertebral fractures.
Results: The post-menopausal women with chronic back pain were shorter in height than those who did not have back pain (154 ± 7.7 cm compared with 157 ± 7.7 cm, p= 0.005), they had a greater prevalence of kyphosis (54% vs 32.4%) and a higher prevalence of VF (15.8% vs 2.8%, p= 0.004). No statistically significant differences in the prevalence of fractures in total, hip fractures, Colles fractures and other fractures, were found between the two groups. BMI, VFs and kyphosis showed an independent and statistically significant association with back pain.
Conclusions: At the time of the study 15.8% of post-menopausal women with chronic back pain presented with at least one VF. In addition, they had a higher prevalence of kyphosis, and were on average 3cm shorter, than the women without back pain. Given that these fractures were not previously diagnosed, we suggest carrying out a lateral thoracic-lumbar X-ray on these patients, in order to establish a diagnosis and to start treatment as soon as possible.

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