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1.
BMJ Case Rep ; 15(10)2022 Oct 07.
Article in English | MEDLINE | ID: mdl-36207054

ABSTRACT

Antiphospholipid syndrome (APS) is an uncommon autoantibody-mediated condition characterised by acquired thrombophilia resulting in recurrent arterial and venous thrombosis. An inciting factor allows for the exposure of endothelial phospholipids, causing antigen formation and subsequent creation of antibodies. A woman in her 70s presented after vehicular trauma, suffering broken ribs, pneumothorax and incidentally discovered left adrenal haemorrhage. Two weeks later she presented with acute-onset abdominal pain and was found to have a right adrenal gland haemorrhage on CT imaging without interval trauma occurring. The patient had antiphospholipid antibody laboratory studies drawn and was given intravenous heparin with a bridge to warfarin at discharge. Laboratory results returned positive for lupus anticoagulant, beta-2 glycoprotein and anticardiolipin antibodies indicating triple positivity, with repeated laboratory tests positive in 12 weeks' time, confirming the diagnosis. Bilateral adrenal haemorrhage, rather than traditional venous thromboembolism, was the presenting pathology in this patient's diagnosis of APS.


Subject(s)
Adrenal Gland Diseases , Antiphospholipid Syndrome , Adrenal Gland Diseases/diagnostic imaging , Adrenal Gland Diseases/etiology , Antibodies, Anticardiolipin , Antibodies, Antiphospholipid , Antiphospholipid Syndrome/complications , Antiphospholipid Syndrome/diagnosis , Female , Glycoproteins , Hemorrhage/diagnostic imaging , Hemorrhage/etiology , Heparin , Humans , Lupus Coagulation Inhibitor , Phospholipids , Warfarin/therapeutic use
2.
BMJ Case Rep ; 15(7)2022 Jul 11.
Article in English | MEDLINE | ID: mdl-35817492

ABSTRACT

We encountered a man in his 60s presenting with worsening macroglossia. The patient underwent extensive otolaryngology evaluation and was diagnosed with primary (AL) amyloidosis on tongue biopsy with Congo red stain. The patient then underwent a bone marrow biopsy and was also found to have concurrent multiple myeloma. He started induction therapy with daratumumab and CyBorD (cyclophosphamide, bortezomib, dexamethasone). Cardiac MRI revealed extensive cardiac amyloidosis and the patient was deemed high risk for autologous stem cell transplant (auto-HCT). Unfortunately, the patient underwent hospitalisation for heart failure exacerbation requiring extensive medical management and passed away as a result of this pathology. AL amyloidosis is a rare disease to begin with and macroglossia as the only presenting sign is notable. This case emphasises the importance of considering AL amyloidosis in patients presenting with similar complaints as macroglossia can be attributed to other less serious aetiologies.


Subject(s)
Amyloidosis , Immunoglobulin Light-chain Amyloidosis , Macroglossia , Multiple Myeloma , Amyloidosis/complications , Amyloidosis/diagnosis , Amyloidosis/therapy , Humans , Immunoglobulin Light-chain Amyloidosis/complications , Immunoglobulin Light-chain Amyloidosis/diagnosis , Immunoglobulin Light-chain Amyloidosis/therapy , Macroglossia/congenital , Macroglossia/etiology , Male , Multiple Myeloma/complications , Multiple Myeloma/diagnosis , Multiple Myeloma/therapy
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