Factor II G20210A and factor V G1691A gene mutations and peripheral arterial occlusive disease.

BACKGROUND: G to A mutations at positions 20210 of the prothrombin gene (F2) and 1691 of the factor V gene (F5) are established risk factors for venous thrombosis. Several factors associated with coagulation and/or fibrinolysis have been associated with arterial occlusive disease, but the role of F2 20210A and F5 1691A for arterial occlusive disease remains unclear. OBJECTIVE: To investigate if F2 20210A and F5 1691A are associated with peripheral arterial occlusive disease (PAOD). METHODS AND RESULTS: We analyzed the prevalence of F2 20210A and F5 1691A alleles in 336 patients with documented PAOD at Fontaine stage II-IV and 300 controls without vascular disease. Allele frequencies in patients and controls were 0.013 and 0.022 for F2 20210A, and 0.042 and 0.045 for F5 1691, respectively, both differences being not statistically significant. CONCLUSION: Our data suggest that mutations F2 G20210A and F5 G1691A are not associated with PAOD.

Cystic adventitial degeneration of the popliteal artery-the diagnostic value of duplex sonography.

Cystical adventitial degeneration of the popliteal artery is a disorder which is difficult to diagnose, due to the similarity of the symptoms of people presenting with peripheral arterial occlusive disease (PAOD) or popliteal entrapment syndrome. The only thing that differs from patients suffering from PAOD is the lack of typical risk factors for arteriosclerosis. Typical diagnostic procedures like conventional angiography or magnetic resonance Imaging angiography can be negative, too and therefore misleading. The only which is crucial in the diagnosis of cystic adventitial degeneration of the popliteal artery is to know the morphological background of this disorder, namely that it is a cyst of the adventitia of the artery which leads to a dynamic exercise-dependent flow inhibition. We present a 57-year old white male who had a week's history of intermittent claudication in his left calf. He was lacking of typical risk factors for arteriosclerosis and on first examination all pulses in both lower extremities were palpable and Doppler index on both legs was >1. Only duplexsonography revealed a cystic formation impressing the left popliteal artery in the hight of the rift in the popliteal joint.

The V34L polymorphism of factor XIII and peripheral arterial disease.

BACKGROUND: Factor XIII catalyzes crosslinking of fibrin in the last steps of the coagulation process. A common polymorphism in the gene for factor XIII A subunit (F13A1 V34L) has been associated with a decreased risk for coronary artery disease, cerebrovascular disease, and deep venous thrombosis. METHODS: To analyze the role of this polymorphism in peripheral arterial disease (PAD) we performed a case-control study including 873 patients with documented PAD and a total of 523 controls without vascular disease. The F13A1 genotype was determined by an allele-specific polymerase chain reaction. RESULTS: Genotype distribution and allele frequencies were not significantly different between patients (VV: 51.9%; VL: 40.7%; LL: 7.4%) and controls (VV: 54.7%; VL: 39.2%; LL: 6.1%). Mean age at onset of the disease was significantly higher in LL homozygous subjects than in VV homozygous subjects (67.3 versus 64.1 years, p=0.017). Heterozygous subjects had an intermediate age at onset (65.1 years), suggesting a gene-dose effect. The association of the L34 variant with onset of PAD remained significant after adjustment for other risk factors. The effect was stronger in men than in women. CONCLUSIONS: We conclude that the F13A1 V34L polymorphism was not associated with the presence of PAD in our study, but may be linked to a later onset of the disease.

Genetic evaluation of the common variant of the endothelial nitric oxide synthase (Glu(298)->

BACKGROUND: Nitric oxide is synthesized by endothelial nitric oxide synthase and plays a key role in adequate endothelial function. An important effect is the reduction of free radicals caused by cigarette smoking, which is the only established risk factor for thromboangiitis obliterans (TAO). In patients with TAO a genetic defect of endothelial nitric oxide synthase may therefore result in deteriorated endothelial function. The aim of our study was to evaluate whether a genetic defect of the common variant of endothelial nitric oxide synthase (Glu(298)-->Asp) can be found in a higher degree in patients with TAO compared to healthy controls. METHODS: We enrolled 42 patients with TAO and 149 healthy subjects. RESULTS: Nineteen patients (45.2%) showed homozygosity for Glu(298) versus 76 (51%) in the control group. The heterozygous status for Glu(298)-->Asp was found among 18 patients (42.9%) compared to 61 (40.9%) members of the control group, which was a nearly equal distribution. Homozygosity for the mutant Asp(298) was slightly elevated in the patient group with 11.9 versus 8.1% in the control group. Allele frequency for Asp(298) was 0.333. CONCLUSIONS: Our data do not show elevated homozygosity for the common variant Glu(298)-->Asp in patients with TAO compared to healthy controls. The limitation of our evaluation is the small number of patients, which is a general problem when evaluating patients with TAO, as this is not a common disease.

Hypothenar hammer syndrome caused by posttraumatic aneurysm of the ulnar artery.

The so-called hypothenar hammer syndrome is a rare entity caused by lesions of the ulnar artery secondary to repetitive trauma to the hypothenar eminence, typically found in persons working with vibrating tools. Its clinical symptoms are pain, stiffness and whitening of the smitten fingers, sometimes in combination with Raynaud's syndrome. Angiographic evaluation of the smitten forearm and hand reveals occlusions, kinking, vasospasm and stenoses of the arteries in the hand and fingers. An aneurysm of the ulnar artery causing the hypothenar hammer syndrome is an even more rare morphological finding. The difficult aspect of treating a hypothenar hammer syndrome is to reopen the occluded vessels. Eventually, circulation deteriorates and skin lesions of the fingers may occur. The advantage of an isolated aneurysm of the ulnar artery is that normal circulation can be restored by vascular surgery, for example, with a vessel interponate. Surgical removal of the isolated aneurysm helps to prevent microembolism to the distal arteries and consequent deterioration of peripheral circulation. We report a young patient who presented with clinical symptoms of the hypothenar hammer syndrome and an aneurysm of the distal ulnar artery, diagnosed by magnetic resonance angiography. The only likely cause of the aneurysm was a bicycle accident some months prior to the occurrence of the aneurysm. The patient underwent vascular surgery and has been free of symptoms during six months of follow-up. A control magnetic resonance angiography performed one month after surgery revealed a normal vascular morphology.

The role of 2-18F-fluoro-2-deoxy-D-glucose positron emission tomography in the diagnosis of giant cell arteritis of the temporal arteries.

OBJECTIVE: As one of the diagnostic criteria for giant cell arteritis affecting the temporal arteries (temporal arteritis) is still biopsy-proven vasculitis of the affected artery, the aim of our study was to evaluate the value of a non-invasive procedure, 2-(18)F-fluoro-2-deoxy-d-glucose (FDG) positron emission tomography (F-18-FDG-PET), in the diagnosis of Horton's disease. METHODS: During a period of 10 months, 22 consecutive patients with the clinical diagnosis of giant cell arteritis and a positive hypoechogenic halo in duplex sonography were re-examined with F-18-FDG-PET. Six patients had giant cell arteritis involving both the large arteries and the temporal arteries; five patients showed giant cell arteritis only in the large arteries without concomitant involvement of the temporal arteries, and the remaining 11 patients showed only involvement of the temporal arteries. All patients were examined by sonography and F-18-FDG-PET, which was performed before treatment with corticosteroids. RESULTS: All patients with positive signs of giant cell arteritis in duplex sonography, i.e. a hypoechogenic halo in the large arteries (thoracic, subclavian, axillary, iliac, aorta), also showed elevated FDG uptake in the same vessels, with complete agreement in the anatomical distribution of changes. When positive sonography was limited to the temporal arteries, FDG-PET was completely negative in the temporal arteries and all other arterial locations. CONCLUSION: PET is not yet suitable for the diagnosis of temporal arteritis and therefore cannot replace invasive biopsy. F-18-FDG-PET is well suited to the demonstration of giant cell arteritis in arteries exceeding 4 mm in diameter.

Osteomyelitis of the spine and abscess formation in the left thigh after stent-graft implantation in the superficial femoral artery.

PURPOSE: To present a rare case of abscess formation around a covered stent in the superficial femoral artery. METHODS AND RESULTS: Two weeks after balloon dilation of a left superficial femoral artery (SFA) occlusion, during which a Hemobahn covered stent had been placed to treat dissection, a 77-year-old nondiabetic male developed intolerable pain and swelling of his left thigh. An abscess had formed around the stent, which was patent; intravenous antibiotic therapy quelled the symptoms, and the patient discontinued his oral antibiotic regimen weeks after discharge. General septicemia ensued. Acute lower limb ischemia and excruciating back pain prompted readmission. The SFA stent-graft occlusion required femoropopliteal bypass; the abscess and spondylodiskitis that had developed in the T12 and L1 vertebrae responded to intravenous antibiotics. The patient is without signs of infection at 6 months. CONCLUSIONS: Local and systemic infections associated with intraluminal prostheses are rare, and prophylactic antibiotic therapy is not commonly employed. Balloon- or device-induced arterial injury may expose the arterial wall to bacterial colonization, suggesting that patients receiving lengthy stents or experiencing arterial injury during angioplasty should receive antibiotics as a precautionary measure.

Pulmonary embolism and intracardiac thrombi--individual therapeutic procedures.

Mobile right heart thrombus is a severe but rare presentation of thromboembolic disease and usually coexists with an already massive pulmonary embolism (PE). But looking at the literature there is no clear consensus on therapeutic management. We therefore tried to find possible therapeutic guidelines and to evaluate an optimal diagnostic procedure looking at three patients who presented at our department with mobile right heart thrombus in the last year. The first patient with a small (diameter = 1 cm) thrombus in the right ventricle and peripheral pulmonary embolism underwent successful thrombolytic therapy without any complications. Patients II and III showed large intracardiac masses, in patient III extending into the superior vena cava, with central PE. These two patients underwent pulmonary arteriotomy. The diagnostic line in each case was transthoracal echocardiography followed by a helix lung CT scan. Only patients with small intracardiac thrombi and thrombotic masses in the peripheral pulmonary arteries but with hemodynamically significant PE should be treated with thrombolytic agents.