Multiple Exostoses Syndrome and Basilar Artery Aneurysm: A Case Report.

BACKGROUND: Hereditary multiple exostoses (HME) is an inherited genetic condition, characterized by the formation of multiple osteochondromas, developing throughout childhood and into puberty. Vascular complications associated with HME are uncommon. METHODS: A case of a patient with HME who was admitted to hospital with subarachnoid hemorrhage (SAH), as a result of acute rupture of a basilar tip aneurysm (BTA), will be presented. Relevant literature on this topic will be systematically reviewed. RESULTS: We describe a rare case of a 48-year-old male patient presenting multiple exostoses in both upper and lower limbs, with no familial history of such lesions. The patient experienced an episode of loss of consciousness, followed by tonal seizures, after a short (five-day) history of headache, proved finally to be secondary to SAH due to rupture of a BTA. There was no antecedent of trauma, neck manipulation, or previous infection. Aneurysm was successfully treated with the intravascular procedure (aneurysm occlusion with coil). Progressively, the patient recovered from dysphasia and tetraparesis, almost completely, following the appropriate treatment and rehabilitation program.In the systematic review, eight cases (including the one presented) of vertebrobasilar vascular system stroke secondary to solitary spinal osteochondroma or multiple osteochondromas were found, but only the present case was associated with basilar artery aneurysm. CONCLUSION: Despite the fact that the etiopathogenesis of basal artery aneurysm presentation in a patient with osteochondromas remains unknown, medical society needs to be aware of this rare condition, as SAH may be a severe complication.

Regression of Achilles tendon thickness after statin treatment in patients with familial hypercholesterolemia: an ultrasonographic study.

OBJECTIVE: Achilles tendon xanthomas (ATX) have been associated with increased cardiovascular risk in patients with familial hypercholesterolemia (FH). The aim of this study was to evaluate clinical and ultrasonographic changes of ATX in patients with FH under statin treatment. METHODS: Achilles tendon thickness (ATT) and echostructure were studied by ultrasonography (US) in 80 unrelated heterozygous FH patients and in 80 age- and sex-matched controls. For ATT measurements the anterioposterior diameter (mm) of the Achilles tendon was measured on sagittal scans. Patients were treated with atorvastatin (mean dose 20+/-10mg/day) and a follow-up examination was performed 12 months later. RESULTS: Clinical examination revealed xanthomas in 15 patients. On US normal fibrillar echostructure (grade 1) of the Achilles tendon (AT) was observed in 42 patients, abnormal echostructure with diffuse heterogeneous echo pattern (grade 2) in 30 patients and focal hypoechoic lesions (grade 3) in 8 patients. At baseline, ATT of all patients (5.23+/-0.91 mm) was significantly larger compared with controls (4.20+/-0.70 mm) (p<0.05). Patients with grades 2 (5.20+/-0.60 mm) and 3 (6.98+/-1.07 mm) had significantly larger ATT than those with grade 1 (4.90+/-0.55 mm), p<0.05. Patients with grade 1 showed significant reduction in ATT after statin treatment (from 4.90+/-0.55 mm to 4.50+/-0.43 mm, p<0.01). In patients with grades 2 and 3 abnormal echostructure remained unchanged and no significant reduction in ATT was observed. CONCLUSION: Statin treatment reduces ATT in FH patients with normal AT echostructure. Ultrasound detects AT structural involvement and is useful in the monitoring of response to treatment.

Antibodies against various forms of mildly oxidized low-density lipoprotein are not associated with carotid intima-media thickness in patients with primary hyperlipidemia.

The carotid intima-media thickness (IMT) can reflect early atherosclerosis. Oxidative modification of low-density lipoprotein (LDL) leads to the formation of several immunogenic epitopes and different forms of antibodies against oxidized LDL (oxLDL). We investigated the possible relationship between autoantibody titers against various forms of mildly oxLDL and carotid IMT in patients (n=100) with primary hyperlipidemia. Three different types of mildly oxidized LDL-oxLDL(L), oxLDL(P), and oxLDL(D)-were prepared at the end of lag, propagation, and decomposition phases of oxidation, respectively. Similar types of oxLDL were also prepared from the same LDL preparations after inactivation of the LDL-associated platelet-activating factor acetylhydrolase (PAF-AH). These types were denoted as oxLDL(-)(L), oxLDL(-)(P), and oxLDL(-)(D). OxLDL types are primarily enriched in lysophosphatidylcholine (lyso-PC) due to hydrolysis of oxidized phospholipids (oxPL) by PAF-AH. OxLDL(-) types are mainly enriched in intact oxPL due to the inactivation of the LDL-associated PAF-AH before oxidation. IgG autoantibodies against all types of oxLDL were determined and IMT was evaluated ultrasonographically. IMT values were significantly associated with age, systolic blood pressure and serum triglyceride levels, whereas no correlation was found between IMT values and antibody titers against all types of either oxLDL or oxLDL(-). We suggest that autoantibodies against various types of mildly oxidized LDL enriched either in lyso-PC or in oxPL are not associated with the extent of carotid atherosclerosis. This supports the concept that extensively oxidized LDL enriched in aldehydes rather than mildly oxidized LDL may play a prominent role in the early stage of atherosclerosis.

Autoantibody titers against OxLDL are correlated with Achilles tendon thickness in patients with familial hypercholesterolemia.

Achilles tendon xanthomas are associated with increased cardiovascular risk in patients with familial hypercholesterolemia (FH). Oxidized low density lipoprotein (OxLDL), the antibodies against OxLDL, and the LDL-associated phospholipase A(2) (Lp-PLA(2)) may play important roles in atherogenesis. We investigated the possible association between plasma levels of OxLDL, Lp-PLA(2) activity, and autoantibody titers against various types of mildly OxLDL with Achilles tendon thickness (ATT). ATT was determined by sonography in 80 unrelated heterozygous FH patients. Three different types of mildly OxLDL were prepared: OxLDL(L), OxLDL(P), and OxLDL(D), at the end of the lag, propagation, and decomposition phases of oxidation, respectively. Similar types of OxLDL were also prepared after inactivation of the LDL-associated Lp-PLA(2). These types were denoted OxLDL(-)(L), OxLDL(-)(P), and OxLDL(-)(D). FH patients exhibited significantly higher plasma OxLDL levels and serum IgG titers against OxLDL(P) and OxLDL(D) compared with 40 normolipidemic apparently healthy controls. ATT values were positively correlated with autoantibody titers against OxLDL(P) and OxLDL(D); however, in multiple regression analysis, ATT was independently associated only with the autoantibody titers against OxLDL(D). We conclude that the IgG autoantibody titers against OxLDL(D) but not OxLDL or Lp-PLA(2) may play an important role in the pathogenesis of Achilles tendon xanthomas in FH patients.

Lack of association between carotid intima-media thickness and PAF-acetylhydrolase mass and activity in patients with primary hyperlipidemia.

Carotid intima media thickness (IMT), represents an important clinical indicator of early atherosclerosis. Human plasma platelet-activating factor acetylhydrolase (PAF-AH) is an enzyme primarily associated with low-density lipoprotein (LDL) while a small proportion of enzymatic activity is also associated with high-density lipoprotein (HDL). Plasma paraoxonase 1 (PON1) is an esterase exclusively associated with HDL. The authors investigated the possible relationship between carotid IMT and the plasma levels of PAF-AH mass and activity as well as the PON1 activity in hyperlipidemic patients. One hundred unrelated patients with primary hyperlipidemia and 67 age-and sex-matched normolipidemic apparently healthy volunteers participated in the study. The PAF-AH activity in total plasma and in HDL-rich plasma (HDL-PAF-AH activity), the plasma PAF-AH mass, and the serum PON1 activities toward paraoxon and phenyl acetate were determined. The plasma PAF-AH mass and activity were higher in hyperlipidemic patients compared to controls, whereas the HDL-PAF-AH activity, as well as the serum PON1 activities were not significantly different between the studied groups. When hyperlipidemic patients were divided into 2 subgroups according to their IMT values (IMT <0.7 mm and IMT > or =0.7 mm) patients with IMT > or =0.7 mm had significantly higher age, and serum triglyceride concentrations, whereas no difference was found in the plasma PAF-AH mass and activity as well as in the HDL-PAF-AH activity between the 2 studied subgroups. The same phenomenon was observed for serum PON1 activities. In a multivariate analysis, only the age was significantly correlated with IMT values (p<0.05). Neither the total plasma PAF-AH mass and activity nor the HDL-PAF-AH activity are associated with early carotid atherosclerosis.