Endocrine Abstracts

Case history: A 50 year old female presented with diarrhoea, facial rash and hyponatraemia. In addition, she described a 3 week history of headaches, malaise, intermittent joint pain and swelling. On examination, the patient was noted to have a malar rash and over the subsequent 2–3 days began to develop necrotic patches on both ears. She had no evidence of cutaneous pigmentation. She took no regular medication, other than dabigatran. Past medical history of note included extensive pulmonary embolism and proximal DVT 8 months prior to admission. She had also presented with a facial rash one week prior to admission, following a change in medication from warfarin to rivaroxaban. This had been attributed to a drug reaction and the patient had been changed on to dabigatran at this time.

Investigations: Bloods on admission: Hb 111; Platelets 113; CRP 118; Prothrombin time 16.1, activated partial thromboplastin time 72. Further results: random cortisol 17; ACTH 683 (in-keeping with primary adrenal insufficiency). Negative results: ANCA, HIV PCR, anti dsDNA, C3 and C4. Significant positive results: anticardiolipin IgG (124.6 [normal range <20]); antibeta-2-glycoprotein-1 IgG (528.7 [normal range <20]) – highly suggestive of Primary Antiphosopholipid Syndrome (APS).

Results and treatment: Following discussion with the haematology and rheumatology department at Royal Hallamshire Hospital, Sheffield the patient was commenced on IV methylprednisolone, IV immunoglobulin and warfarin loading (with bridging enoxaparin). However, she was found in cardiac arrest the following morning and resuscitation attempts were unsuccessful. Post-mortem examination was consistent with rapidly advancing APS causing widespread vasculitis and intravascular thrombosis, resulting in vascular occlusion and infarction of multiple organs including the skin, heart, lungs, kidneys, adrenals and small bowel.

Conclusions and points for discussion: Catastrophic antiphospholipid syndrome (CAPS) is the most severe form of APS and represents <1% of APS cases. Diagnosis requires vascular thrombosis in ≥3 organs/tissues; development of symptoms simultaneously or in <1 week; evidence of small vessel thrombosis and laboratory confirmation of APS. Due to its rarity, the majority of data regarding management comes from retrospective analysis of the CAPS registry. The current consensus is combination therapy with anticoagulation, IV immunoglobulin or plasma exchange, corticosteroids and rituximab. Mortality remains high despite optimum treatment.