Inferior Vena Cava Agenesis, a Forgotten Etiology of Deep Vein Thrombosis in Young Patients: A Case Report.

Agenesis of the inferior vena cava (IVC) is a rare congenital anomaly that is associated with the development of extensive collateral circulation with the aim of compensating for the inadequate return of blood to the right ventricle. This collateral circulation predisposes to the emergence of venous hypertension with stasis and thrombus formation. Most cases are asymptomatic and are diagnosed incidentally. We report the case of a 28-year-old man who presented with bilateral deep vein thrombosis (DVT) as the first manifestation of agenesis of the IVC. We decided to maintain anticoagulation for an indefinite period of time after a multidisciplinary discussion. IVC agenesis should be considered a cause of DVT in young men, with bilateral and proximal thrombosis and without other risk factors. The rarity of the condition makes its therapeutic approach complex.

A Straining Heart: Transthyretin Amyloidosis as a Cause of Heart Failure.

Cardiac amyloidosis is a disease caused by the deposition of amyloid fibrils in the extracellular space of the heart, most often by immunoglobulin light chains or by transthyretin. It is often underdiagnosed because the signs and symptoms are nonspecific or due to the false perception that the diagnosis always requires an endomyocardial biopsy. Transthyretin amyloidosis is being increasingly recognized as a cause of heart failure, particularly in patients with heart failure with preserved ejection fraction (HFpEF). We present the clinical case of an 86-year-old man whose diagnosis was based on signs and symptoms compatible with cardiac amyloidosis and in which imaging performed a preponderant role. This case reminds clinicians to consider the diagnosis in older patients with HFpEF, left ventricular hypertrophy and rhythm disturbances. It highlights the importance of evaluating global longitudinal strain (GLS) in a standard echocardiographic evaluation.

New insights in cryoglobulinemic vasculitis.

Cryoglobulins are antibodies that precipitate at low temperatures and dissolve after rewarming. Cryoglobulinemia refers to the presence of circulating cryoglobulins and generally leads to a systemic inflammatory syndrome characterized by fatigue, arthralgia, purpura, ulcers, neuropathy and/or glomerulonephritis. The disease mainly involves small to medium-sized blood vessels and causes vasculitis due to cryoglobulin-containing immune complexes. Cryoglobulinemia is classified into three types (I, II and III) on the basis of immunoglobulin composition. Predisposing conditions include lymphoproliferative, autoimmune diseases and hepatitis C virus infection. The diagnosis of cryoglobulinemic syndrome is predominantly based on the presence of clinical features and laboratorial demonstration of serum cryoglobulins. The treatment strategy depends on the cause of cryoglobulinemia. For patients with chronic HCV infection, antiviral therapy is indicated. Immunosuppressive or immunomodulatory therapy, including steroids, plasmapheresis and cytotoxic agents, is reserved for organ-threatening manifestations. In this review, we discuss the main clinical presentations, diagnostic approach and treatment options.