Joint manifestations of Fabry's disease

Paira, Sergio; Roverano, Susana; Iribas, J L; Barcelo, H

doi:10.1007/bf02283120

Cited by 12 publications

(14 citation statements)

References 8 publications

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“…These painful “Fabry crises” are usually induced by stress, rapid changes in environmental temperature, fever and/or physical exercise. Since these painful attacks often involve the (peripheral) joints and may be accompanied by fever, malaise and raised non-specific inflammatory markers (eg, ESR), patients with Fabry disease are often misdiagnosed as having a rheumatic disease (eg, JIA, RA) or rheumatic fever 5 7 40 41. The number and severity of the Fabry crises tend to decrease during adulthood.…”

Section: The Sphingolipidosesmentioning

confidence: 99%

“…The number and severity of the Fabry crises tend to decrease during adulthood. The Fabry crises are thought to be caused by storage of glycosphingolipids in the endothelium of the vasa nervorum and/or the cytoplasm of the peripheral nerves and dorsal root ganglia 7 41 42. In addition to these bone crises, bone mineral density abnormalities, including osteopenia and osteoporosis, have also been reported in patients with Fabry disease 43…”

Section: The Sphingolipidosesmentioning

confidence: 99%

“…Often, these patients were receiving specialist care from a rheumatologist owing to the fact that the presenting manifestations involved the bones or joints, or both 1 2 3 4 5 6 7 8…”

mentioning

confidence: 99%

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Musculoskeletal manifestations of lysosomal storage disorders

Aldenhoven

Sakkers

Boelens

et al. 2009

Annals of the Rheumatic Diseases

102

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Lysosomal storage disorders (LSDs), a heterogeneous group of inborn metabolic disorders, are far more common than most doctors presume. Although patients with a severe LSD subtype are often readily diagnosed, the more attenuated subtypes are frequently missed or diagnosis is significantly delayed. The presenting manifestations often involve the bones and/or joints and therefore these patients are frequently under specialist care by (paediatric) rheumatologists, receiving inadequate treatment. Since effective disease-specific treatments, including enzyme replacement therapy and stem cell transplantation, have become available for certain LSDs and timely initiation of these treatments is necessary to prevent the development of severe, disabling and irreversible manifestations, early diagnosis has become essential. The challenge is to raise awareness for better recognition of the presenting signs and symptoms of LSDs by all doctors who may encounter these patients, including rheumatologists.

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Section: The Sphingolipidosesmentioning

confidence: 99%

Section: The Sphingolipidosesmentioning

confidence: 99%

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Musculoskeletal manifestations of lysosomal storage disorders

Aldenhoven

Sakkers

Boelens

et al. 2009

Annals of the Rheumatic Diseases

102

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“…Previous reports describe FD cases, which were diagnosed after complete serological and histological evaluations by rheumatology, failed to result in a diagnosis of autoimmune disease (4,5). One of those cases described a male patient, 25 years old, who suffered distal pain since he was 19 years, with no joint morning stiffness or movement limitation, absence of response to NSAIDs, and normal findings in radiography (a).…”

Section: Discussionmentioning

confidence: 99%

When arthralgia is not arthritis

et al. 2017

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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

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“…In some patients, the presence of fever, elevated erythrocyte sedimentation rate and rheumatic manifestations have led to an initial misdiagnosis of connective tissue disease,[34] which has been further compounded by a high association with autoantibodies. [5] There is no satisfactory explanation for these observations, although some authors suggest that lipid storage stimulates the production of autoantobodies.…”

Section: Discussionmentioning

confidence: 99%

Fabry′s disease: An ultrastructural study of nerve biopsy

Gayathri

Yasha

Kanjalkar

et al. 2008

Ann Indian Acad Neurol

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Fabry's disease, an X linked recessive disorder caused by the deficiency of α-galactosidase A (α-gal A), leads to progressive accumulation of glycosphingolipids. We report this rare disease in a 19-year-old boy who presented with angiokeratomas, paresthesia and corneal opacities, and nerve biopsy revealed by electron microscopy lamellated inclusions in the smooth muscle, perineurial and endothelial cells characteristic of Fabry's disease.

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Joint manifestations of Fabry's disease

Cited by 12 publications

References 8 publications

Musculoskeletal manifestations of lysosomal storage disorders

Musculoskeletal manifestations of lysosomal storage disorders

When arthralgia is not arthritis

Fabry′s disease: An ultrastructural study of nerve biopsy

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