Joint manifestations revealing inborn metabolic diseases in adults: a narrative review

Orphanet Journal of Rare Diseases

Review

Hélène Blasco¹  Claire Jacob²  Alexandra Audemard-Verger²  Adrien Bigot²  Amaury Loret³  François Maillot⁴  Denis Mulleman⁵  Saloua Mammou⁵  Ida VD Schwartz⁶ 

[1] Biochemistry laboratory, University Hospital of Tours, Tours, France;UMR INSERM 1253, Tours, France;Reference center for inherited metabolic diseases, Tours, France;Department of Internal Medicine, University Hospital of Tours, Tours, France;Department of Internal Medicine, University Hospital of Tours, Tours, France;Department of Rheumatology, University Hospital of Tours, Tours, France;Department of Internal Medicine, Hôpital Bretonneau, 2 Boulevard Tonnellé, CHRU de Tours, 37044, Tours cedex, France;Department of Internal Medicine, University Hospital of Tours, Tours, France;UMR INSERM 1253, Tours, France;Reference center for inherited metabolic diseases, Tours, France;Department of Rheumatology, University Hospital of Tours, Tours, France;Medical Genetics Service/Genetics Department, Hospital de Clinicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, Porto Alegre - RS, Brazil;

关键词: “Arthralgia”;    “Arthritis”;    “Joints”;    “Inherited metabolic diseases”;   

DOI  :  10.1186/s13023-023-02810-6

 received in 2022-10-26, accepted in 2023-07-06,  发布年份 2023

来源: Springer

【 摘 要 】

Inborn metabolic diseases (IMD) are rare conditions that can be diagnosed during adulthood. Patients with IMD may have joint symptoms and the challenge is to establish an early diagnosis in order to institute appropriate treatment and prevent irreversible damage. This review describes the joint manifestations of IMD that may be encountered in adults. The clinical settings considered were arthralgia and joint stiffness as well as arthritis. Unspecific arthralgias are often the first symptoms of hereditary hemochromatosis, chronic low back pain may reveal an intervertebral disc calcification in relation with alkaptonuria, and progressive joint stiffness may correspond to a mucopolysaccharidosis or mucolipidosis. Gaucher disease is initially revealed by painful acute attacks mimicking joint pain described as “bone crises”. Some IMD may induce microcrystalline arthropathy. Beyond classical gout, there are also gouts in connection with purine metabolism disorders known as “enzymopathic gouts”. Pyrophosphate arthropathy can also be part of the clinical spectrum of Gitelman syndrome or hypophosphatasia. Oxalate crystals arthritis can reveal a primary hyperoxaluria. Destructive arthritis may be indicative of Wilson’s disease. Non-destructive arthritis may be seen in mevalonate kinase deficiency and familial hypercholesterolemia.

【 授权许可】

CC BY   
© Institut National de la Santé et de la Recherche Médicale (INSERM) 2023

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