Distal extremity pain as a presenting feature of Fabry's disease

Pagnini, Ilaria; Borsini, Walter; Cecchi, Fabiola; Sgalambro, A; Olivotto, Iacopo; Frullini, Anna; Cimaz, Rolando

doi:10.1002/acr.20385

Cited by 20 publications

(14 citation statements)

References 36 publications

(22 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Pain is a common presenting symptom 59–61. As pain may be the only feature for some years, Fabry's disease should be considered in the differential diagnosis of pain clinic referrals 62. Episodic burning pain and pins and needles may initially be restricted to the hands and feet, but pain becomes more persistent and generalised with time and can be triggered by changes in environmental or body temperature, exercise or emotional stress 59 60.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Neuropathic pain in children

Howard

Wiener

Walker

2013

Archives of Disease in Childhood

View full text Add to dashboard Cite

Neuropathic pain (NP), due to a lesion or disease of the somatosensory nervous system, is not well documented or researched in children. NP is a clinical diagnosis that can be difficult, especially in younger children. Nevertheless, it is important to recognise NP, as pain mechanisms and consequently management and prognosis differ from other types of long-term pain. NP is common in adult pain clinics but many of the underlying disease states in which it occurs are infrequently or never encountered in paediatric practice. However, NP in childhood has been reported, even in the very young in certain clinical situations. Causes of NP include traumatic injury, complex regional pain syndrome type II, cancer and chemotherapy, chronic infection, neurological and metabolic disease, and inherited sensory nerve dysfunction. The clinical and laboratory study of traumatic peripheral nerve injury has revealed important age-related differences in clinical presentation and prognosis. It is clear that mechanisms operating during development can profoundly modify the consequences of nerve damage and NP. Clinically, diagnosis, assessment and treatment of NP are based on methods and evidence derived from data in adults. Improvements in the understanding and management of NP are likely to come from developmentally appropriate improvements in the clarity and consistency of diagnosis and systematic, well-researched approaches to treatment.

show abstract

Section: Introductionmentioning

confidence: 99%

“…Pain is present in 70%, with a higher incidence in males (80% vs 65%), with a significant impact on quality of life 59 60 63. Age at diagnosis ranges from childhood to 77 years 62. However, NP has been reported from 3 years of age in boys and 6 years in girls, at a mean age of 7.8±3.2 years 60 64.…”

Section: Introductionmentioning

confidence: 99%

Neuropathic pain in children

Howard

Wiener

Walker

2013

Archives of Disease in Childhood

View full text Add to dashboard Cite

show abstract

“…The presence of distal cyanosis and pallor in FD is probably because of the abrupt vasoconstriction in areas that were previously hypoperfused regions due to luminal stenosis secondary to the Gl 3 deposit in the vascular wall. Other diseases that can be mistaken for FD include juvenile idiopathic arthritis, rheumatic fever, collagen diseases, systemic vasculitis, sarcoidosis, gout, and fibromyalgia (8,9).…”

Section: Discussionmentioning

confidence: 99%

When arthralgia is not arthritis

et al. 2017

View full text Add to dashboard Cite

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

show abstract

“…It may be triggered by exercise, fever, sun exposure, changes in temperatures or stress. 30 The burning pain may be so intense to interfere with every-day life and substantially reduce quality of life. 31 Neurologic examination is normal, as well as electromyography (EMG) and electroneurography.…”

Section: Anderson-fabry Disease In the Childhood: First Signs And Symmentioning

confidence: 99%

Anderson-Fabry, the Histrionic Disease: From Genetics to Clinical Management

Cecchi¹,

Tomberli

Morrone

2013

Cardiogenetics

Self Cite

View full text Add to dashboard Cite

Anderson-Fabry disease (AFD) is an Xlinked lysosomal storage disorder of glycosphingolipid catabolism, due to deficiency or absence of a galactosidase A (α-gal A) enzyme. The disease may affect males and females, the latter with an average 10 years delay. Metabolites storage (mostly Gb3 and lyso-Gb3) leads to progressive cellular and multiorgan dysfunction, with either early and late onset variable clinical manifestations that usually reduce quality of life and life expectancy. Heart and kidney failure, stroke and sudden death are the most devastating complications. AFD is always been considered a very rare disease, although new epidemiologic data, based on newborn screening, showed that AFD prevalence is probably underestimated and much higher than previously reported, especially for late-onset atypical phenotypes. Currently, the diagnosis may be easier and simpler by evaluating α-gal A enzyme activity and genetic analysis for GLA gene mutations on dried blood spot. While a marked α-gal A deficiency leads to diagnosis of AFD in hemizygous males, the molecular analysis is mandatory in heterozygous females. However, referral to a center with an expert multidisciplinary team is highly advisable, in order to ensure careful management and treatment of patients, based also on accurate molecular and biochemical data interpretation. While long-term efficacy of enzyme replacement therapy (ERT) in advanced stage is still debated, increasing evidence shows greater efficacy of early treatment initiation. Concomitant, organ-specific therapy is also needed. New treatment approaches, such as chemical chaperone therapy, alone or in combination with ERT, are currently under investigation. The present review illustrates the major features of the disease, focusing also on biochemical and genetic aspects

show abstract

Distal extremity pain as a presenting feature of Fabry's disease

Cited by 20 publications

References 36 publications

Neuropathic pain in children

Neuropathic pain in children

When arthralgia is not arthritis

Anderson-Fabry, the Histrionic Disease: From Genetics to Clinical Management

Contact Info

Product

Resources

About