Our study suggests that the degree of intimal hyperplasia on TAB histology (routinely available to all hospital units) seems to be closely associated with NOCs of GCA. The study highlights the possible prognostic as well as diagnostic role of the biopsy. We feel that intimal hyperplasia noted in biopsy specimens may help us in the risk stratification of GCA patients and targeting of appropriate and novel therapies.
Purpose
We report two patients who presented initially to ophthalmology clinics with symptoms and signs of orbital inflammation that led to a diagnosis of Erdheim-Chester Disease (ECD).
Observations
ECD is a rare form of non-Langerhans cell histiocytosis (LCH) which is characterised by multi-system organ involvement and poor prognosis with standard therapies. Both patients were positive for the
BRAF
V600E mutation on genetic testing and were treated with the
BRAF
inhibitors Vemurafenib and Dabrafenib respectively. These cases highlight the variable clinical presentation and course of ECD, the classical radiological and histopathological findings, and the high degree of clinical suspicion necessary to reach this diagnosis.
Conclusions and importance
The combination of xanthelasma and bilateral, diffuse intraconal orbital masses must suggest to the clinician the possibility of ECD; and consideration to arrange further investigation with a full body CT or FDG PET/CT scan should be given, even in the absence of wider systemic symptoms or signs. With the advent of targeted therapies such as
BRAF
inhibitors, it is of even more importance that a diagnosis of ECD is established in a timely manner in order to give these patients the best chance of reduced morbidity and increased survival.
Musculoskeletal signs and symptoms of hypoadrenalism are less well described in the literature compared to other endocrine disorders such as diabetes mellitus and thyroid disease. This may in part be due to the difficulties associated with making a definitive diagnosis of hypoadrenalism where the general symptoms and signs can be very subtle. Hence, suspecting hypoadrenalism in a patient with mainly musculoskeletal features can be difficult and delayed. To illustrate this point, we present three cases of hypoadrenalism with varying degrees of rheumatological symptoms and signs. This article reviews all the cases of hypoadrenalism in the English, French and Spanish language medical literature, going back to the time of Thomas Addison. All the important clinical and laboratory features have been summarised to help clinicians diagnose and treat this disease.
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