Severe case and literature review of primary erythromelalgia: novel SCN9A gene mutation

Erythromelalgia is a rare clinical syndrome characterized by intermittent heat, redness, swelling and pain more commonly affecting the lower extremities. Symptoms are mostly aggravated by warmth and are eased by a cold temperature. In some cases, symptoms can be very severe and disabling. Erythromelalgia can be classified as either familial or sporadic, with the familial form inherited in an autosomal dominant manner. Recently, there has been a lot of progress in studying Na(v)1.7 sodium channels (expressed mostly in the sympathetic and nociceptive small-diameter sensory neurons of the dorsal root ganglion) and different mutations affecting the encoding SCN9A gene that leads to channelopathies responsible for some disorders, including primary erythromelalgia. We present a severe case of progressive primary erythromelalgia caused by a new de novo heterozygous missense mutation (c.2623C>G) of the SCN9A gene which substitutes glutamine 875 by glutamic acid (p.Q875E). To our knowledge, this mutation has not been previously reported in the literature. We also provided a short literature review about erythromelalgia and Na(v) sodium channelopathies.     

A review of troponins in ischemic heart disease and other conditions

Measuring cardiac troponin (cTn) I and T levels is currently considered to be a cornerstone for making the diagnosis of acute coronary syndrome (ACS).Based on current literature, cTnI and cTnT are known to be very sensitive and specific for myocardial damage, regardless of the underlying cause. Lately, it has been found that cTns can be elevated and reflect worse prognoses in many situations where ACS is excluded. Such information can affect the validity of cTns as markers for ACS without classic symptoms. This may call for a revision of the troponin cutoff values to make a diagnosis of ACS. Furthermore, it opens a new field of study to determine appropriate management of patients with elevated cTn levels in whom ACS has been excluded.     

Rare Case of Takayasu Arteritis with Concurrent Aneurysmal Dilation and Stenosis

Takayasu arteritis is a rare, chronic large vessel vasculitis that primarily affects women aged 10 to 40 years of Asian descent. The inflammatory processes of the disease can result in stenosis and/or occlusion of the aorta and its branches, causing a wide range of symptoms. Rarely, damage of the elastic lamina or muscular media can cause aneurysmal dilation of the affected vessel. Diagnosis is based on the clinical presentation, laboratory proof of inflammation, and imaging finding of wall thickening in the acute phase and later arterial stenosis or occlusion. Management includes disease control with immunosuppression and some patients might require revascularization. Here, we present a rare case of Takayasu arteritis with both right common carotid artery aneurysmal dilation and stenosis at a conforming site. Although aneurysmal dilation has been sparsely reported in the Takayasu arteritis literature, our case may represent the distinct finding of concomitant dilation and stenosis in this disease.     

Lumbar artery pseudoaneurysm caused by a Gunther Tulip inferior vena cava filter

Inferior vena cava (IVC) filters are widely used to decrease the risk of pulmonary embolism in patients with contraindications to anticoagulation. Complications include local hematoma, access site deep venous thrombosis (DVT), filter migration and embolization, leg penetration through the IVC wall, IVC occlusion, and filter fracture with embolization. Other rare complications include leg penetration into adjacent organs including duodenum and ureter. Lumbar artery pseudoaneurysms are rare and may be spontaneous, iatrogenic, or traumatic. To date, there have been 3 case reports of lumbar artery pseudoaneurysms caused by IVC filters. We present an additional case of a lumbar artery pseudoaneurysm caused by a Gunther Tulip IVC filter treated successfully with selective embolization.     

External iliac vein thrombosis in an athletic cyclist with a history of external iliac artery endofibrosis and thrombosis

External iliac artery endofibrosis describes an intimal subendothelial fibrosis leading to wall thickening and stenosis that has been described in high-performance athletes. There are anatomical, mechanical, and probably metabolic factors that may contribute to this pathology. Ankle-brachial index (ABI) measurement with exercise testing, duplex ultrasound, computed tomography (CT) or magnetic resonance (MR) angiogram, and ultimately arteriography help to make the diagnosis. Management can be conservative, but most cases require surgical intervention. External iliac vein stenosis and thrombosis in cyclists has rarely been described in the literature. We report a case of extensive left lower limb deep venous thrombosis (DVT) including the external iliac vein diagnosed in a 57-year-old athletic cyclist with a history of external iliac artery thrombosis.     

Spontaneous lateral abdominal wall hematoma complicating chronic obstructive pulmonary disease exacerbation

Lateral abdominal wall hematoma is a rare and potentially life-threatening condition. We report a case of a spontaneous lateral abdominal wall hematoma that developed in a patient with severe cough caused by chronic obstructive pulmonary disease (COPD) exacerbation. The hematoma resolved with conservative management.     

Polyarteritis Nodosa-Induced Pancreaticoduodenal Artery Aneurysmal Rupture

Polyarteritis nodosa (PAN) is a systemic, necrotizing vasculitis of small- and medium-sized arteries typically with multiorgan involvement. Most cases of PAN are idiopathic, although hepatitis B or C virus infections and hairy cell leukemia are important in the pathogenesis of some cases. PAN is characterized as segmental transmural inflammation of muscular arteries. Diagnosis is based on clinical suspicion, a negative immunofluorescence test for antineutrophil cytoplasmic antibodies, and whenever possible, biopsy conformation. Angiographic images may reveal microaneurysms affecting the renal, hepatic, or mesenteric vasculature. Aneurysmal formation and rupture are important complications that can be fatal. Treatment may warrant immunosuppression with steroids and cyclophosphamide. If left untreated, PAN can be fatal. To our knowledge, we report the second documented case of PAN-induced ruptured inferior pancreaticoduodenal artery aneurysm.     

COVID-19 and venous thromboembolism: Known and unknown for imaging decisions

As we continue to fight against the current coronavirus disease-2019 (COVID-19) pandemic, healthcare professionals across the globe are trying to answer questions surrounding how to best help patients with the up-to-date available science while awaiting the development of new therapies and mass vaccination. Since early in the pandemic, studies indicated a heightened risk of venous thromboembolism (VTE) in COVID-19 infected patients. There have been differing expert opinions about how to assess pretest probability of VTE in this patient population. This has been partly due to the high prevalence of respiratory failure in this patient population and the use of D-dimer as a prognostic test which is also frequently elevated in patients with COVID-19 in absence of VTE. Some experts have argued for an approach similar to usual care with testing if clinical suspicion is high enough. Some have argued for more routine screening at different points of care. Others have even suggested empiric therapeutic anti-coagulation in moderate to severely ill COVID-19 patients. In the following article, we review and summarize the most current literature in hopes of assisting clinicians in decision making and guidance for when to be concerned for VTE in COVID-19 patients. We also discuss research gaps and share pathways currently being used within our institution.     

A leiomyosarcoma of the small bowels causing obscure gastrointestinal bleeding diagnosed by capsule endoscopy

An 80-year-old woman presented with recurrent occult gastrointestinal bleeding requiring blood transfusions. She underwent endoscopy and colonoscopy that failed to identify the cause of bleeding. An enteroscopy revealed duodenal arteriovenous malformation that was cauterized. However, anemia and occult gastrointestinal bleeding recurred. A repeat enteroscopy was negative. A wireless capsule endoscopy showed a lesion in the small bowel. Pathology revealed a leiomyosarcoma. This case confirms the importance of capsule endoscopy in the diagnosis of obscure bleeding and detection of small bowel tumors.