Volume 7 · Number 1 · March 2015
- Melorheostosis: presentation of a clinical case [11-14]
- Are the current surgical criteria for asymptomatic primary hyperparathyroidism valid? [15-19]
- Familial hypocalciuric hypercalcemia: sometimes it is not what it seems [20-22]
- Multiple osteonecrosis as a form of presentation of osteogenesis imperfecta [23-26]
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 1.
Introduction: The relationship between osteoporosis and arterial hypertension has not been clearly established, with alterations in calcium metabolism having been reported in the latter which may explain their association. Our objective was to establish the relationship between the A986S polymorphism of the calcium-sensing receptor (CaSR) and the presence of osteoporotic clinical fractures in a group of patients with hypertension.
Material: Prospective observational cohort study in 71 patients with hypertension, from 2001 to June 2014. We obtained socio-demographic and clinical data, including osteoporotic clinical fractures. The CaSR polymorphism was analysed using molecular techniques. The data was analysed using SPSS 15.0 (p<0.5) Results: 43.77% of the patients were men and 56.3% women. Genotype AA was found in 67.6% of patients, genotype SS in 2.8% and genotype AS in 29.6%. Those with genotype AA did not have higher comorbidity (27% vs 26%, p=0.9) or more pathological fractures (14.6% vs 21.7%, p=0.4) than the others. In the subgroup of women, 11 osteoporotic clinical fractures were recorded, without there being any differences between those with the AA genotype and the others (28% vs 27%, p=0.9). Conclusions: We found no association between the A986S polymorphism and the presence of osteoporotic clinical fractures in our cohort.
Melorheostosis is a form of hyperostosis which affects both bone and the adjacent soft tissues. Its incidence is variable, although it is higher in the second and third decades of life due to the slowly progressive nature of the disease. It generally presents with pain which may cause significant functional limitation. We may be assisted in its diagnosis by its characteristic radiological image which resembles “wax melting down the side of a candle”. A case of melorheostosis is presented with clinical findings and radiological characteristics. The patient had previously been diagnosed with Paget’s disease of bone, so we proposed a differential diagnosis of this pathology.
HPTP is a very frequent pathology which often develops asymptomatically. Surgical intervention being the only curative treatment for this disease there are some criteria for the indication of surgery, but these do not always fit the reality of the patient since they are based on clinical complications (osteoporosis, renal insufficiency, urolithiasis, fragility fractures).
We present the clinical case of a patient who did not meet any of the requirements for having surgical intervention according to the position documents, and who was operated on after the existence was shown of a deterioration of the trabecular bone structure, determined by the TBS (trabecular bone score) technique, and located in the adenoma using gammagraphy. The possible use of these techniques, not seen in the position documents, to complement the decision regarding surgery, is discussed.
Familial hypocalciuric hypercalcemia (FHH) is an uncommon cause of hypercalcemia. Its prevalence is estimated to be 1:78,000 people. We describe a case with atypical presentation confirmed by genetic diagnosis.
This is a case of a woman of 74 years of age with osteoporosis referred to the endocrinology service with suspected primary hyperparathyroidism (HPTP). She presented with a high level of parathyroid hormone (96.3 pg/ml, normal limits (NL): 15-65 pg/ml), with normal levels of calcium, phosphorus and magnesium, as well as a raised level of calciuria.
She subsequently presented with normal levels of PTH, raised levels of calcium, combined with normal -high calciuria. The calcium/creatinine clearance ratio (CCCR, in mmol/l) varied between 0.011 and 0.02 mmol/l. A CCCR <0.01 is suggestive of FHH, and a CCCR >0.02, of HPTP. This ratio is within the range between 0.01 and 0.02 mmol/l, a reason which justifies requesting a genetic test in all patients with normal or high PTH, hypercalcemia and CCCR <0.02, requirements which our index case meets.
The case of a woman diagnosed with osteogenesis imperfecta, who presented with multiple osteonecrosis, is described. To our knowledge, this is the first reported case of such a clinical presentation. The therapy, as well as the outcome for the patient, is also analysed.
Pregnancy defines a model where the development of the fetal skeleton occurs in a short lapse of time. This achievement is accomplished under the control of the own fetus, who regulates the process through the signals generated in the so-called feto-placental unit. The maternal organism undergoes an adaptation process in which a drastic readjustment of mechanisms involved in the bone turnover takes place. Among the most obvious changes detected in maternal blood there are the increases in calcitriol, placental growth hormone, insulin-like growth factor -1 (IGF-1), estrogens and prolactin. There are also increases in osteoprotegerin and in the ligand of the receptor activator of nuclear factor kappa (RANKL). The phenomenon leads to transitory states of bone deterioration, which extends up to the end of lactation. The whole process is still insufficiently explored. We present an update of the changes affecting the mother and of those that arise in the placenta.
Objetives: Nowadays it is recognised that vitamin K plays an important role in bone health. It is necessary for the gamma-carboxylation of osteocalcin (the most important non-collagen protein in the bone), making the osteocalcin function. There are two important forms of vitamin K (vitamin K1 and vitamin K2), which come from different sources and have different biological activity.
Epidemiological studies suggest that a diet with high levels of vitamin K is associated with a lower risk of hip fractures in older men and in women. However, controlled randomised clinical trials, carried out with supplements of vitamin K1 or K2 in the white population do not show an increase in bone mineral density (BMD) in most of the different areas of the skeleton. Supplementation with vitamin K1 and K2 may reduce the risk of fracture, but the clinical trials which include fractures as a final result have methodological limitations, so clinical trials with greater numbers of patients, and which are better designed, would be needed in order to prove the efficacy of vitamin K1 and K2 in relation to fractures.
In conclusion, we may say that there is currently insufficient evidence to recommend the routine use of vitamin K for the prevention of osteoporosis and fractures in postmenopausal women.