Coexistence of Relapsing Polychondritis and Sickle Cell Disease in a Child

Bernard Ofoe Tetteh,Florence-Barbara Yebuah,Dzifa Dey,Maame-Boatemaa Amissah-Arthur,Remzi Cevik

doi:10.1155/2021/3600451

Bernard Ofoe Tetteh, Florence-Barbara Yebuah + Show 3 more

Open Access

https://doi.org/10.1155/2021/3600451

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Abstract

Relapsing polychondritis (RP) is a rare, severe connective tissue disease of unknown etiology affecting cartilaginous and proteoglycan-rich structures in an episodic and inflammatory manner. Approximately a third of RP cases occur in conjunction with another disease usually systemic autoimmune rheumatic disease, or myelodysplastic syndrome. Sickle cell disease (SCD) is a common inherited hematologic condition characterized by the inheritance of two abnormal hemoglobins, of which one is a hemoglobin S, presenting with severe acute and chronic complications from vaso-occlusive phenomena, which can be difficult to differentiate from RP. The pathogenesis of RP is poorly understood but suggests an autoimmune mechanism with a link to sickle cell disease yet to be established. Treatment is empiric with steroids, anti-inflammatory, and disease-modifying antirheumatic drugs being the mainstay of therapy. Severe complications occur despite treatment, with respiratory involvement being the most catastrophic. This case report reviews a complex case of RP in an 11-year-old girl with sickle cell disease (SF genotype) presenting with bilateral red painful eyes, a painful swollen left ear, and knee pain. Laboratory findings revealed elevated inflammatory markers with negative immune serology. A diagnosis of RP was made based on the patient's symptomatology, presentation, and fulfillment of 5 out of the 6 clinical features using McAdam's criteria. Management was instituted with a myriad of conventional and biologic DMARDs and other anti-inflammatory medications with no significant improvement and the development of complications of airway obstruction from disease activity and osteoporotic fracture from steroid therapy and underlying hemoglobinopathy. In children, the diagnosis of RP is delayed or overlooked due to its low incidence, variability in clinical symptoms, or sharing similar clinical features with other coexisting disease entities. This article reports its occurrence in the pediatric population and highlights the difficulty in managing such cases as there are no defined standard treatment protocols.

Highlights

Relapsing polychondritis (RP) is a rare, severe connective tissue disease with an episodic and progressive inflammatory nature involving cartilaginous structures, mainly the ear, nose, and laryngotracheobronchial tree. e disease affects the joints, sclera, and various proteoglycan-rich tissues including the media of arteries [1]
We describe a case of relapsing polychondritis in an 11year-old girl with sickle cell disease (SF genotype) who suffered severe respiratory tract involvement, which posed a considerable management challenge. is case is of significant interest due to the rarity of the condition, the young age of our patient, and the association with sickle cell disease; previously unreported in the literature compared to the known coexistence with autoimmune conditions such as vasculitis, systemic lupus erythematosus, and rheumatoid arthritis, and the hurdles encountered during treatment
RP is an infrequent multisystemic, potentially lethal autoimmune condition of unknown etiology, affecting cartilaginous and proteoglycan-rich tissues in an episodic pattern with treatment being empiric. ough rare, especially in the young, we report on an unusually young patient who had sickle cell disease as a comorbidity and an aggressive clinical course of RP, with complications due to both disease and treatment

Summary

Introduction

Relapsing polychondritis (RP) is a rare, severe connective tissue disease with an episodic and progressive inflammatory nature involving cartilaginous structures, mainly the ear, nose, and laryngotracheobronchial tree. e disease affects the joints, sclera, and various proteoglycan-rich tissues including the media of arteries [1]. E diverse and nonspecific clinical features of RP alongside its relative rarity frequently lead to a diagnostic delay [8] which is associated with the lack of ear, nose, or joint involvement but presents with early signs of intermittent arthritis or eye involvement in such cases [4]. Is case is of significant interest due to the rarity of the condition, the young age of our patient, and the association with sickle cell disease; previously unreported in the literature compared to the known coexistence with autoimmune conditions such as vasculitis, systemic lupus erythematosus, and rheumatoid arthritis, and the hurdles encountered during treatment We describe a case of relapsing polychondritis in an 11year-old girl with sickle cell disease (SF genotype) who suffered severe respiratory tract involvement, which posed a considerable management challenge. is case is of significant interest due to the rarity of the condition, the young age of our patient, and the association with sickle cell disease; previously unreported in the literature compared to the known coexistence with autoimmune conditions such as vasculitis, systemic lupus erythematosus, and rheumatoid arthritis, and the hurdles encountered during treatment

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