Osteolysis hereditary multicentric

Osteolysis Hereditary Multicentric (OHM) is a rare genetic disorder characterized by the progressive destruction of bone tissue, particularly affecting the hands and feet. This condition is also known as Multicentric Carpotarsal Osteolysis Syndrome (MCTO), highlighting its primary impact on the carpal and tarsal bones of the wrist and ankles, respectively. OHM is inherited in an autosomal dominant pattern, meaning that only one copy of the altered gene in each cell is sufficient to cause the disorder.

Symptoms and Diagnosis

The symptoms of OHM typically begin in childhood and may include pain, swelling, and progressive deformity of the affected areas. As the disease progresses, it can lead to a significant reduction in bone density (Osteoporosis), joint deformities, and potentially, a loss of mobility. Diagnosis of OHM is primarily based on clinical examination, family history, and radiographic findings. Genetic testing can confirm the diagnosis by identifying mutations in the responsible gene.

Genetics

OHM is caused by mutations in the MMP2 gene, which provides instructions for producing an enzyme involved in the breakdown and remodeling of the extracellular matrix, a crucial component of bone tissue. Mutations in the MMP2 gene disrupt this process, leading to the abnormal bone resorption seen in OHM.

Treatment

There is no cure for OHM, and treatment focuses on managing symptoms and improving quality of life. This may include pain management, physical therapy, and in some cases, surgical interventions to correct deformities or improve function. Early diagnosis and intervention are crucial to prevent or minimize the progression of the disease.

Epidemiology

OHM is an extremely rare condition, with only a small number of cases reported in the medical literature worldwide. The exact prevalence is unknown.

Research Directions

Research into OHM is ongoing, with studies aimed at better understanding the genetic mechanisms underlying the disease and developing more effective treatments. Advances in genetic research and therapy hold promise for future interventions.

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