High prevalence of autoimmune disease in the rare inflammatory bone disorder sternocostoclavicular hyperostosis: survey of a Dutch cohort

Pieter A Valkema,Pancras C W Hogendoorn,Saskia Le Cessie,Natasha M Appelman-Dijkstra,Janneke E Witteveen,Clare H Luymes,Neveen A T Hamdy

doi:10.1186/s13023-017-0573-9

Pieter A Valkema, Pancras C W Hogendoorn + Show 5 more

Open Access

https://doi.org/10.1186/s13023-017-0573-9

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Abstract

BackgroundSternocostoclavicular hyperostosis (SCCH; ORPHA178311) is a rare inflammatory disorder of the axial skeleton, the precise pathophysiology of which remains to be established. We addressed the potential association of SCCH with autoimmune processes by evaluating the lifetime prevalence of autoimmune disease in 70 patients with adult-onset SCCH and 518 SCCH-unaffected first-degree relatives (parents, siblings and children). Danish hospital registry data for autoimmune diseases were used as reference data.ResultsThe mean age of interviewed patients was 56.3 years (range 26–80 years) and 86% were female. Interviewed patients belonged to 63 families, with four families having clusters of 2–3 patients. A diagnosis of at least one autoimmune disease was reported in 20 SCCH patients (29%) and in 47 relatives (9.1%), compared to an estimated 3.9% prevalence of autoimmune disease in the Danish reference population. A diversity of autoimmune diseases was reported in SCCH patients and relatives, most frequently psoriasis vulgaris (14%). Palmoplantar pustulosis was reported by 28 patients (40%). In SCCH patients, inclusion of palmoplantar pustulosis as putative autoimmune disease increased the overall prevalence to 54%.ConclusionsThe high prevalence of autoimmune disease in patients with sternocostoclavicular hyperostosis and their first-degree relatives suggests that autoimmunity may play a role in the still elusive pathophysiology of the intriguing osteogenic response to inflammation observed in this rare bone disorder.

Highlights

Sternocostoclavicular hyperostosis (SCCH; ORPHA178311) is a rare inflammatory disorder of the axial skeleton, the precise pathophysiology of which remains to be established
The patients belonged to 63 separate families, four of which had multiple affected family members
Our findings from this study demonstrate a relatively high life-time prevalence of autoimmune disease in 29% of patients with adult-onset SCCH and in 9% of their firstdegree relatives, compared to prevalences varying from 3.2%, based on a literature review of studies published between 1965 and 1995 on 24 autoimmune diseases [13], to 3.9% based on national hospital registry data for 30 diseases in Denmark [24]

Summary

Introduction

Sternocostoclavicular hyperostosis (SCCH; ORPHA178311) is a rare inflammatory disorder of the axial skeleton, the precise pathophysiology of which remains to be established. Sternocostoclavicular hyperostosis (SCCH; ORPHA178311) is a rare inflammatory disorder of the axial skeleton, characterized by chronic osteitis associated with a predominantly osteogenic response. The diagnosis is established on the basis of characteristic scintigraphic and radiological features (Fig. 1a–c) These consist of focal increases in radioisotope uptake in affected bones on a technetium-99 m bone scintigraphy (Fig. 1c) and of pathognomonic hyperostosis and sclerosis in these bones on computed tomography (CT) (Fig. 1a–b). Histological features are those of a chronic osteomyelitis with inflammation and fibrosis of the marrow cavity, in the absence of an apparent pathogen (Fig. 1d) [2,3,4]

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