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Rheumatic manifestations of inherited diseases
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This review highlights rheumatic manifestations in inherited diseases. It discusses hypercholesterolemia linked to Achilles tendinous xanthomatosis and positive prognoses for femoral head osteonecrosis in Gaucher's disease patients.
Area of Science:
- Rheumatology
- Genetics
- Metabolic Diseases
Background:
- Inherited diseases can present with diverse rheumatic manifestations.
- Hypercholesterolemia is associated with Achilles tendinous xanthomatosis, but hyperlipidemic arthropathy is not well understood.
- Gaucher's disease impacts bone health, particularly in pediatric populations.
Purpose of the Study:
- To review the rheumatic features of inherited diseases.
- To present evidence on hypercholesterolemia and Achilles tendinous xanthomatosis.
- To discuss osteonecrosis in Gaucher's disease and cervical myelopathy in Hunter's disease.
Main Methods:
- Literature review of rheumatic manifestations in inherited diseases.
- Case presentation of cervical myelopathy in Hunter's disease.
- Discussion of imaging techniques for monitoring Gaucher's disease.
Main Results:
- Strengthened association between hypercholesterolemia and Achilles tendinous xanthomatosis.
- Favorable functional prognosis for osteonecrosis of the femoral head in pediatric Gaucher's disease.
- Liver MRI correlates with avascular necrosis and may aid enzyme replacement monitoring in Gaucher's disease.
- A case of cervical myelopathy in Hunter's disease is presented.
Conclusions:
- Inherited diseases have significant rheumatic implications.
- Further research is needed to understand hyperlipidemic arthropathy.
- Early diagnosis and monitoring are crucial for managing rheumatic complications in inherited disorders like Gaucher's and Hunter's disease.
Abstract:
In this paper the rheumatic features of a selection of inherited diseases are reviewed. Further evidence has been reported strengthening the association between hypercholesterolemia and Achilles tendinous xanthomatosis, although the clinical manifestations of hyperlipidemic arthropathy remain poorly understood. Osteonecrosis of the femoral head is demonstrated to have a good functional prognosis in children and adolescents with Gaucher's disease. Magnetic resonance imaging of the liver may prove to be useful in monitoring enzyme replacement in Gaucher's disease because it correlates with the presence of avascular necrosis. A case of cervical myelopathy in Hunter's disease is also presented.