Table 2 - uploaded by Margaret GE Peterson
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Summary of previously reported BMD results in females with Marfan syndrome (units of BMD)
Source publication
Reduced bone mineral density (BMD) was sporadically reported in patients with Marfan syndrome. This may or may not place the Marfan patient at increased risk for bone fracture. In comparing the BMDs of our patients with those reported in the literature, it seemed that agreement between values, and hence the degree of osteoporosis or osteopenia repo...
Citations
... The same reporting bias pertains for intestinal issues, such an intussusception, volvulus, diverticulosis, and rupture. In one retrospective examination of adults admitted for diverticulosis, a slight association with Marfan syndrome (odds ratio = 2.4) was found [221]. ...
... Osteoporosis [215][216][217][218][219][220][221][222][223][224][225] Craniofacial manifestations [103] Myopathy [226,227] 11 Skin ...
Introduction: The revised Ghent nosology presents the classical features of Marfan syndrome. However, behind its familiar face, Marfan syndrome hides less well-known features.
Areas covered: The German Marfan Organization listed unusual symptoms and clinical experts reviewed the literature on clinical features of Marfan syndrome not listed in the Ghent nosology. Thereby we identified the following features: (1) bicuspid aortic valve, mitral valve prolapse, pulmonary valve prolapse, tricuspid valve prolapse, (2) heart failure and cardiomyopathy, (3) supraventricular arrhythmia, ventricular arrhythmia, and abnormal repolarization, (4) spontaneous coronary artery dissection, anomalous coronary arteries, and atherosclerotic coronary artery disease, tortuosity-, aneurysm-, and dissection of large and medium-sized arteries, (5) restrictive lung disease, parenchymal lung disease, and airway disorders, (6) obstructive- and central sleep apnea, (7) liver and kidney cysts, biliary tract disease, diaphragmatic hernia, and adiposity, (8) premature labor, and urinary incontinence, (9) myopathy, reduced bone mineral density, and craniofacial manifestations, (10) atrophic scars, (11) caries, and craniomandibular dysfunction, (12) headache from migraine and spontaneous cerebrospinal fluid leakage, (13) cognitive dysfunction, schizophrenia, depression, fatigue, and pain, (14) and activated fibrinolysis, thrombin, platelets, acquired von Willebrand disease, and platelet dysfunction.
Expert commentary: Future research, nosologies, and guidelines may consider less well-known features of Marfan syndrome.
... W dural ektopii charakterystyczny jest ból pleców szczególnie w odcinku lędźwiowym, ból głowy, ból nóg, ból brzucha, zaburzenia zwieracza, w tym nietrzymanie moczu lub zaparcia, zaburzenia chodu [17,18]. Obserwuje się także zmniejszoną gęstość mineralną kości, szczególnie w okolicach bioder i kręgosłupa [19][20][21]. ...
Personalised External Aortic Root Support (PEARS) is an innovative, alternative method of
treatment for patients with pathological growth and dissections of aortic root, which could
result in death. Nowadays a commonly used therapeutic method is replacing these vessels
surgically.This disorder is mainly present in the Marfan syndrome - a disease genetically
determined, which is caused by a mutation of the FBN1 gene located on the long arm of
chromosome 15. Nowadays a commonly used therapeutic method is replacing these vessels
surgically. Using computer methods a personal external aortic stent was designed and
created based on the heart magnetic resonance images. Medical polymer mesh is used in the
production of the stent. It cover the aorta from the aortic root to the distal end of the
brachiocephalic trunk ostium. This technique brings low risk and saves both valves and
biological contact blood - membrane of the aorta. In addition, during the operation the
extracorporeal circulation is not used, which reduces the risk of complications. Thanks to
this method the number of cardiac reoperations is reduced and it eliminates the need to take
anticoagulant. Unfortunately the solution must be improved. The main problem is the
accurate positioning of the coronary arteries. The incorrect identification of the location of
these vessels often causes perioperative problems. The scientific articles say that PEAR is
not perfect method of treatment but successfully prevents further proliferation of the aorta.
However, further modification can make this method very hopeful.
Keywords: Marfan syndrome, stent, aorta, PEARS
... This alteration has negative effects on TGF beta, which has a critical role in bone remodeling. Studies in children and adults with MFS reported reduced axial and peripheral bone mineral density [102]. ...
Introduction: The term secondary osteoporosis (SO) identifies a reduction of bone mass related to a well-established disease or pharmacological agent. The identification of the underlying disease often represents a challenging situation in clinical practice.
Areas covered: The prevalence of SO in real world may vary, ranging from 17 to 80%; therefore, search for a form of SO represents a pillar when evaluating patients with osteoporosis. Guidelines for treatment of specific secondary forms of osteoporosis, such as glucocorticoid induced osteoporosis, have been published even though often neglected in clinical practice. For the majority of SO there are currently no specific guidelines concerning treatment with only few trials showing the effect of bone-active drugs on fracture risk reduction.
Expert opinion: Healthcare professionals should be aware of the secondary forms of osteoporosis, in particular when the reason for reduced skeletal resistance is uncertain or when bone mineral density results are unsatisfactory in a patient compliant to therapy. In a few cases, (such as for example: no response to therapy, better classification of bone involvement in patients with kidney failure, suspicion of rare metabolic bone disease) bone biopsy is needed to investigate the patient. This review highlights recent advances in understanding and managing SO.
... One implant removal was also performed on a patient with Marfan syndrome. While there are no reports in the literature regarding implant placement in patients with Marfan syndrome [37], analytical studies of bone mineral density reported adult patients demonstrated a high risk for developing osteoporosis [38]. Implant failures in postmenopausal women with osteoporosis [39] can lead to an assumption that this category of patients might be in higher risk for implant loss. ...
Objectives
This retrospective study examined the mid- to long-term clinical and radiographic performance of a tapered implant in various treatment protocols in patients with local and systemic risk factors (RFs).
Material and methods
Two hundred seven NobelActive implants were inserted in 98 patients in the period from 10/2008 to 02/2015. The subdivision of the cohort was defined by local (n = 40), systemic (n = 6), local and systemic (n = 8), or without any RFs (n = 44) to analyze implant survival and marginal bone levels.
Results
Fifteen implants failed within the follow-up period. The mean follow-up period of the remaining implants was 34 months (range 12 to 77 months). The cumulative survival rate according to Kaplan-Meier was 91.5%. The survival rate for 93 implants in 45 patients with no RFs was 94.8% whereas it was 94% for 83 implants in 48 patients with local RFs (p = 0.618), 81.3% for 14 implants in 6 patients with systemic RFs (p = 0.173), and 76.5% for 17 implants in 6 patients with local and systemic risk factors (p = 0.006). The interproximal marginal bone level was − 0.49 ± 0.83 mm at the mesial aspect and − 0.51 ± 0.82 mm at the distal aspect in relation to implant shoulder level and showed no relevant difference in the various risk factor groups.
Conclusions
It can be assumed that the negative effects of the local or/and systemic risk factors were partially compensated by the primary stability and grade of osseointegration of the NobelActive implant.
Clinical relevance
The use of this system in patients with risk factors and immediate loading procedures.
... 68 In adults with MFS, reduced axial and peripheral BMD have been observed, suggesting that these patients may be at higher risk of fractures. [69][70][71][72][73][74][75][76][77] Conversely, osteopenia has not been shown in some cases. 78 Nonetheless, there is a paucity of data regarding bone mineral status of MFS patients during childhood in the literature. ...
More and more data seem to indicate the presence of an increasing number of syndromes and genetic diseases characterized by impaired bone mass and quality. Meanwhile, the improvement of etiopathogenetic knowledge and the employment of more adequate treatments have generated a significant increase in survival related to these syndromes and diseases. It is thus important to identify and treat bone impairment in these patients in order to assure a better quality of life. This review provides an updated overview of bone pathophysiology and characteristics in patients with Down, Turner, Klinefelter, Marfan, Williams, Prader-Willi, Noonan, and 22q11 deletions syndrome. In addition, some options for the treatment of the bone status impairment in these patients will be briefly discussed.
... However, the effect of Losartan on the growing skeleton is poorly understood. This is especially important as increasing numbers of children treated with this class of drugs are affected with conditions that predispose them to low bone mineral density (BMD), like in Marfan syndrome [4][5][6]. To better understand the role of Angiotensin signaling in the growing skeleton, we studied the effects of Losartan treatment during murine bone and cartilage development. ...
Angiotensin receptor blockers (ARBs) are a group of anti-hypertensive drugs that are widely used to treat pediatric hypertension. Recent application of ARBs to treat diseases such as Marfan syndrome or Alport syndrome has shown positive outcomes in animal and human studies, suggesting a broader therapeutic potential for this class of drugs. Multiple studies have reported a benefit of ARBs on adult bone homeostasis; however, its effect on the growing skeleton in children is unknown. We investigated the effect of Losartan, an ARB, in regulating bone mass and cartilage during development in mice. Wild type mice were treated with Losartan from birth until 6weeks of age, after which bones were collected for microCT and histomorphometric analyses. Losartan increased trabecular bone volume vs. tissue volume (a 98% increase) and cortical thickness (a 9% increase) in 6-weeks old wild type mice. The bone changes were attributed to decreased osteoclastogenesis as demonstrated by reduced osteoclast number per bone surface in vivo and suppressed osteoclast differentiation in vitro. At the molecular level, Angiotensin II-induced ERK1/2 phosphorylation in RAW cells was attenuated by Losartan. Similarly, RANKL-induced ERK1/2 phosphorylation was suppressed by Losartan, suggesting a convergence of RANKL and angiotensin signaling at the level of ERK1/2 regulation. To assess the effect of Losartan on cartilage development, we examined the cartilage phenotype of wild type mice treated with Losartan in utero from conception to 1day of age. Growth plates of these mice showed an elongated hypertrophic chondrocyte zone and increased Col10a1 expression level, with minimal changes in chondrocyte proliferation. Altogether, inhibition of the angiotensin pathway by Losartan increases bone mass and accelerates chondrocyte hypertrophy in growth plate during skeletal development.
Copyright © 2015 Elsevier Inc. All rights reserved.
... (4) Skeletal findings are frequent in MFS and are thought to be caused by disproportionate overgrowth of the long bones. (5) Several studies of adults with MFS have also reported decreased axial and peripheral bone mineral density (BMD), (6)(7)(8)(9)(10)(11)(12)(13) suggesting an increased risk of fractures. However, the precise incidence of fractures in patients with MFS is still unknown. ...
Marfan syndrome (MFS) is a rare connective tissue disorder caused by mutation in the gene encoding the extracellular matrix protein fibrillin-1 (FBN1), leading to transforming growth factor-beta (TGF-β) signaling dysregulation. Although decreased axial and peripheral bone mineral density (BMD) has been reported in adults with MFS, data about the evolution of bone mass during childhood and adolescence are limited. The aim of the present study was to evaluate bone and muscle characteristics in children, adolescents, and young adults with MFS. The study population included 48 children and young adults (22 girls) with MFS with a median age of 11.9 years (range 5.3 to 25.2 years). The axial skeleton was analyzed at the lumbar spine using dual-energy X-ray absorptiometry (DXA), whereas the appendicular skeleton (hand) was evaluated using the BoneXpert system (with the calculation of the Bone Health Index). Muscle mass was measured by DXA. Compared with healthy age-matched controls, bone mass at the axial and appendicular levels and muscle mass were decreased in children with MFS and worsened from childhood to adulthood. Vitamin D deficiency (<50 nmol/L) was found in about a quarter of patients. Serum vitamin D levels were negatively correlated with age and positively correlated with lumbar spine areal and volumetric BMD. Lean body mass (LBM) Z-scores were positively associated with total body bone mineral content (TB-BMC) Z-scores, and LBM was an independent predictor of TB-BMC values, suggesting that muscle hypoplasia could explain at least in part the bone loss in MFS. Patients with a FBN1 premature termination codon mutation had a more severe musculoskeletal phenotype than patients with an inframe mutation, suggesting the involvement of TGF-β signaling dysregulation in the pathophysiologic mechanisms. In light of these results, we recommend that measurement of bone mineral status should be part of the longitudinal clinical investigation of MFS children.
... 68 In adults with MFS, reduced axial and peripheral BMD have been observed, suggesting that these patients may be at higher risk of fractures. [69][70][71][72][73][74][75][76][77] Conversely, osteopenia has not been shown in some cases. 78 Nonetheless, there is a paucity of data regarding bone mineral status of MFS patients during childhood in the literature. ...
More and more data seem to indicate the presence of an increasing number of syndromes and genetic diseases characterized by impaired bone mass and quality. Meanwhile, the improvement of etiopathogenetic knowledge and the employment of more adequate treatments have generated a significant increase in survival related to these syndromes and diseases. It is thus important to identify and treat bone impairment in these patients in order to assure a better quality of life. This review provides an updated overview of bone pathophysiology and characteristics in patients with Down, Turner, Klinefelter, Marfan, Williams, Prader-Willi, Noonan, and 22q11 deletions syndrome. In addition, some options for the treatment of the bone status impairment in these patients will be briefly discussed.
... Reduced axial and peripheral BMD have been observed in several studies in adults with MFS, suggesting that these patients are at an increased risk of fractures [180][181][182][183][184][185][186][187]. Conversely, evidence of osteopenia has not been encountered in some cases [188]. ...
In recent years, as knowledge regarding the etiopathogenetic mechanisms of bone involvement characterizing many diseases has increased and diagnostic techniques evaluating bone health have progressively improved, the problem of low bone mass/quality in children and adolescents has attracted more and more attention, and the body evidence that there are groups of children who may be at risk of osteoporosis has grown. This interest is linked to an increased understanding that a higher peak bone mass (PBM) may be one of the most important determinants affecting the age of onset of osteoporosis in adulthood. This review provides an updated picture of bone pathophysiology and characteristics in children and adolescents with paediatric osteoporosis, taking into account the major causes of primary osteoporosis (PO) and evaluating the major aspects of bone densitometry in these patients. Finally, some options for the treatment of PO will be briefly discussed.
... 26,27 The etiology of this bone loss remains speculative, but no significant increase in bone fracture rates has been seen. 28 OCULAR Myopia is the most common ocular feature and often progresses rapidly during childhood. 29 Displacement of the lens (ectopia lentis) is a hallmark feature of Marfan syndrome but is only seen in 1 or both eyes in approximately 60% of affected individuals. ...
Marfan syndrome is a systemic, heritable connective tissue disorder that affects many different organ systems and is best managed by using a multidisciplinary approach. The guidance in this report is designed to assist the pediatrician in recognizing the features of Marfan syndrome as well as caring for the individual with this disorder.
