Extra-Cranial Involvement in Giant Cell Arteritis

Recent advances in imaging studies and treatment approaches have greatly improved our knowledge about Giant Cell Arteritis (GCA). Previously thought of as a predominantly cranial disease, we now know that GCA is a systemic disease that may involve other medium and large vessel territories. Several imaging studies have shown that between 30 and 70% of patients with GCA present with large-vessel vasculitis. Moreover, a significant proportion of patients present large-vessel disease in the absence of cranial involvement. Extra-cranial disease also poses management challenges as these patients may have a more refractory-relapsing disease course and need additional therapies. Aortic dilation and aneurysms are well-described late complications of GCA involving the large artery territories. In this chapter, we discuss the clinical picture of extra-cranial involvement in GCA, focusing on improved diagnostic protocols and suitable treatment strategies

A Rare Case of Bilateral Proptosis

A 65-year-old man presented with a 2-year history of severe bilateral proptosis, palpable lymphadenopathy and moderate hepatosplenomegaly. A blood test was positive for hepatitis C infection. CT showed palpebral infiltrative lesions with regional progression through the temporal and masticatory spaces to the pharynx and hypopharynx causing almost complete airway obstruction. A palpebral biopsy was consistent with low-grade Bcl-2+ extra-nodal MALT non-Hodgkin B-cell lymphoma. The patient received six cycles of rituximab-based chemotherapy with clinical remission at 9-month follow-up. Bilateral proptosis is a rare presentation of several diseases. When brain CT excludes cavernous sinus pathology, thyroid ophthalmopathy or haematological malignancy should be considered

Copper-induced Haemolytic Anaemia

Acute copper toxicity is uncommon in Western countries and is often the result of accidental consumption or a suicide attempt. We report the case of a 65-year-old man presenting to the accident and emergency department after a suicide attempt with ingestion of Bordeaux mixture, ibuprofen, acetaminophen and bleach. Primary evaluation showed caustic oesophagitis, toxic hepatitis and acute renal injury, which were treated with supportive care. During admission, he developed a non-immune haemolytic anaemia associated with high levels of copper in urine and blood. Chelation treatment with penicillamine was started and evolution was favourable after 1 month of treatment. Copper poisoning can be lethal. Prompt diagnosis and treatment are key for a favourable prognosis

Wilson’s Disease: First Report of Two Combined Mutational Variants in a Portuguese Patient

Wilson's disease is a rare autosomal recessive condition. A defect on the copper carrier protein ATP7B prevents the excretion of copper, which then accumulates in several organs. The prognosis of Wilson's disease is favourable if the diagnosis is made early. The Leipzig criteria standardized phenotypic classification and diagnostic criteria, thus simplifying the diagnostic approach. A search for ATP7B mutations is not necessary for diagnostic purposes and studies of genotype–phenotype correlation have not produced any conclusive evidence so far. More information is needed to reliably assess the prognosis for each patient. Here we describe a young patient with a combination of two mutational variants: c.3402del and c.3061-12T>A. To our knowledge, this is the first report of this compound heterozygote genotype