When arthralgia is not arthritis

Abstract

IntroductionThe presence of distal extremity pain in children and adolescents usually triggers the search for rheumatologic diseases without thought to non-rheumatologic causes of joint pain. Even when classic signs of articular inflammation (swelling, reddening, local temperature increase, pain, etc.) are absent, laboratory evaluations, including non-specific serological markers of inflammation (C-reactive protein, erythrocyte sedimentation, etc.), and autoantibodies are ordered. In the absence of serological evidence of a disease, several rheumatic diseases cannot be completely excluded. As such, in many cases, it is necessary to perform tissue biopsy (e.g., nerve biopsy in peripheral nervous system primary vasculitis) to definitively confirm or exclude a diagnosis. This diagnostic journey, which was paved with numerous studies and analyses, takes up significant time and resources and at times leads nowhere. Approaching distal extremity pain with a complete differential diagnosis, including non-rheumatologic entities, may hasten diagnosis, thus decreasing cost and aiding in earlier initiation of an appropriate therapy. This study aimed to illustrate the requirement to include non-rheumatologic diseases as a differential diagnosis of distal extremity pain by presenting a case of a patient who after years of work up of arthralgia, which was actually attributed to rheumatologic causes, had an inherited metabolic disease. Case PresentationA 32-year-old male presented to the clinic with complaints of distal pain in his four limbs, predominantly in the hands, since he was 8 years. Pain was consistent with neuropathic pain because of typical features (burning, tingling, lightning, and stabbing). It increased in intensity when exercising, with febril or subfebril fever, and with an environmental temperature increase. After 6 years of consultation in various pediatric centers, he was diagnosed with growing pains and was treated with non-steroidal anti-inflammatory drugs (NSAIDs), with no response. When he was 12 years, he began to experience gastrointestinal symptoms. In particular, the patient had postprandial pain, early satiety, and intermittent diarrhea. Because of all these symptoms, he had to stop playing sports.At the age of 15 years, laboratory investigations began targeting rheumatologic causes of his symptomatology. This was because of the persistence of his pain and the appearance of punctiform reddish lesions in the periumbilical and genital regions, which were considered to be petechiae. Varied and repeated studies revealed no autoantibodies, and at 24-h urine examination, the presence of microalbuminuria was only remarkable. When he was 20 years, he had slightly increased creatinine and proteinuria (500 mg/day) levels. His pain persisted, and there was gastrointestinal involvement. After 6 years, a diagnosis of chronic kidney disease of unknown etiology was made despite the absence of a kidney biopsy. He was followed up in our

Higher rate of rheumatic manifestations and delay in diagnosis in Brazilian Fabry disease patients

“…For example, rheumatic fever and growing pains, that are among the most frequent rheumatic misdiagnoses [3,34], have specific features such as age of incidence, family history, pattern of pain, response to medication and usually neuropathic pain is not present [35,36]. It is important to say that FD patients do present with arthralgia and myalgia as part of the disease itself, but not true arthritis [11].…”

“…FD patients are commonly misdiagnosed [3,4]. Incorrect diagnoses are often related to rheumatologic conditions, since patients may present with different rheumatic and immune-mediated manifestations [5][6][7][8][9][10][11][12][13]. Inappropriate diagnosis may lead to improper therapies and delay in FD recognition and adequate treatment initiation, thus hampering prognosis.…”

Beyond the guidelines management of juvenile idiopathic arthritis: a case report of a girl with polyarticular disease refractory to multiple treatment options and Leri Weill syndrome

“…Nevertheless, alongside JIA, there is a wide range of loosely related noninflammatory causes of a swollen joint in children, especially in the absence of clinical signs of inflammation. Lysosomal storage diseases (LSD) such as mucopolysaccharidosis type I (MPS I), Gaucher disease type I and Fabry disease all have prominent musculoskeletal symptoms early in the course of the disease, and are often first seen by a pediatric rheumatologist [2][3][4][5][6][7][8]. However, the underlying mechanism of those disorders does not directly involve the immune mediated inflammatory response, but rather an inflammation caused by genetic defects and subsequent perturbations at the protein level.…”