Differential Diagnosis: Hepatic Complications in Inborn Errors of Immunity.

Inborn errors of immunity (IEIs) are a heterogeneous group of diverse clinical and genetic phenotypes that have an estimated combined prevalence as high as 1/1000. Increased risk of frequent, severe, or opportunistic infections is a common feature of IEIs, but there are also diverse immune-mediated, non-infective complications that are associated with significant morbidity and mortality. As patient survival increases, these are becoming more apparent within the liver. Hepatic involvement of IEIs may not only manifest as infections, but also nodular regenerative hyperplasia, granulomatous disease, autoimmune hepatitis and malignancy. As therapeutic options for patients are expanding, with both pharmaceutical treatments as well as haematopoietic stem cell transplant (HSCT), iatrogenic liver injury is increasingly common and important to identify. This review article summarises the spectrum of hepatic complications seen in IEIs, and highlights the challenges of management within this patient cohort, where immunosuppression is poorly tolerated. Early recognition and prompt diagnosis of potential hepatic complications is therefore crucial in ensuring potentially reversible causes are treated, but significant uncertainty remains regarding best practice for many features of immune dysregulation with limited high-quality evidence.

Late Presentation of Infected Silicone Granulomas in the Lower Limb.

INTRODUCTION: Dermal fillers are used for multiple cosmetic indications including gluteal and thigh augmentation. Complications, although infrequent, are increasing due to the dramatic growth of dermal filler use. Our aim was to describe how the complication of infected silicone granulomas can present following lower limb augmentation. METHODS: Two cases presented with pain, oedema, and erythema at the site of previous silicone filler injection, following a considerable delay after the last injection (range 4-7 years). We collected data on their biochemistry, haematology, histology, microbiology, and imaging at the time of presentation. RESULTS: Complications included prolonged cellulitis with recurrent abscesses at sites of previous silicone dermal filler injection. Histology revealed infiltration of chronic inflammatory cells suggestive of silicone granuloma in both cases. Patients were reluctant to divulge use of cosmetic fillers or failed to recognise their significance given the time delay making diagnosis difficult. Delayed or recurring infections can suggest the presence of atypical organisms and we present the first reported case of silicone granuloma infection with Propionibacterium acnes. CONCLUSIONS: Microorganisms can induce immune-mediated hypersensitivity and are believed to be the trigger for delayed activation of a quiescent foreign body to a granulomatous reaction. The substantial time delay between injection and reaction must be recognised and may be attributable to atypical microorganisms or biofilm formation. Previous antibiotic use can affect expedient microbiological diagnosis and treatment requires close collaboration with microbiologists. It is important that clinicians are aware of these important complications which are becoming more common with increased use of filler augmentation.

Prophylactic Therapy for Hereditary Angioedema.

Long-term prophylaxis is needed in many patients with hereditary angioedema and poses many challenges. Attenuated androgens are effective in many but are limited by side effect profiles. There is less evidence for efficacy of tranexamic acid and progestagens; however, the small side effect profile makes tranexamic acid an option for prophylaxis in children and progestagens an option for women. C1 inhibitor is beneficial, but at present requires intravenous delivery and may need dose titration for maximum efficacy. Short-term prophylaxis should be considered for all procedures. New therapies are promising in overcoming many problems encountered with current options for long-term prophylaxis.