multiple epiphyseal dysplasia 7

Multiple Epiphyseal Dysplasia (MED) Description

Multiple Epiphyseal Dysplasia (MED) is a rare genetic disorder that affects the growing ends of bones [6]. It is characterized by abnormal development of the bone and cartilage of the epiphyses, leading to short stature, joint pain and stiffness, and early arthritis [3].

The condition primarily affects the ends of the long bones in the arms and legs (epiphyses), causing them to deteriorate prematurely [2]. This can lead to a range of symptoms, including:

• Short stature
• Joint pain and stiffness
• Early arthritis
• Abnormal development of the bone and cartilage

MED is caused most commonly by an autosomal mutation in cartilage oligomeric matrix protein (COMP) [7]. It is a congenital disorder, meaning it is present at birth.

Key Points:

• MED is a rare genetic disorder affecting the growing ends of bones
• Abnormal development of bone and cartilage leads to short stature, joint pain, and early arthritis
• Primarily affects the epiphyses (ends) of long bones in arms and legs
• Caused by an autosomal mutation in COMP
• Congenital disorder present at birth

Common Signs and Symptoms of Multiple Epiphyseal Dysplasia

Multiple epiphyseal dysplasia is a rare genetic disorder that affects the development of bones and cartilage. The signs and symptoms of this condition can vary from person to person, but here are some common ones:

• Abnormal bone and cartilage development: Affected individuals may display symptoms or signs of skeletal dysplasia, which can include irregularities in bone shape, size, and density [7].
• Joint pain and stiffness: Pain in the joints, most often in the knees or hips, especially after exercise is a common symptom [4, 5].
• Short stature: Patients with multiple epiphyseal dysplasia may experience short stature, averaging 57 to 67 inches tall [2].

It's worth noting that some forms of multiple epiphyseal dysplasia are mainly limited to the femoral epiphyses, which can lead to specific symptoms such as waddling gait and pain at onset [6].

Diagnostic Tests for Multiple Epiphyseal Dysplasia

Multiple epiphyseal dysplasia (MED) diagnosis involves a combination of clinical evaluation, radiographic findings, and molecular genetic testing. Here are the diagnostic tests used to confirm MED:

• Radiographic skeletal survey: A comprehensive X-ray examination is necessary to identify the characteristic changes in epiphyseal contour and delayed ossification at multiple epiphyses [9].
• Molecular genetic testing: This can include gene-targeted testing (multigene panel) and comprehensive genomic testing to detect mutations in the genes associated with MED, such as COL10A1 and COL11A2 [6][7].
• Genetic testing: Molecular genetic testing can support a diagnosis of multiple epiphyseal dysplasia by detecting mutations in the genes responsible for the condition [7].

These diagnostic tests are used to confirm the presence of MED and rule out other conditions that may present with similar symptoms. A thorough medical history, physical examination, and detailed family history are also essential components of the diagnostic process.

References: [6] Jun 16, 2021 — Diagnosis is made radiographically with presence of irregular, delayed ossification at multiple epiphyses. [7] Jun 1, 2015 — Molecular genetic testing can support a diagnosis of multiple epiphyseal dysplasia. Molecular genetic testing can detect mutations in the ... [9] by S Unger · 2008 · Cited by 74 — A radiographic skeletal survey is necessary to delineate the pattern of generalized delayed epiphyseal ossification and changes in epiphyseal contour.

Treatment of Multiple Epiphyseal Dysplasia: Drug Therapy

The treatment of multiple epiphyseal dysplasia (MED) involves a combination of non-surgical and surgical interventions. In terms of drug therapy, the primary goal is to manage pain and inflammation.

• Pain control: A combination of analgesics and physiotherapy, including hydrotherapy, can help alleviate pain and discomfort associated with MED [7].
• Medications: Nonsteroidal anti-inflammatory drugs (NSAIDs) may be prescribed to help reduce pain and inflammation in the affected joints.
• Other medications: In some cases, other medications such as corticosteroids or disease-modifying antirheumatic drugs (DMARDs) may be used to manage symptoms and slow disease progression.

It's essential to note that while drug therapy can provide relief from symptoms, it is often used in conjunction with other treatments, such as physical therapy and lifestyle modifications, to manage the condition effectively.

The differential diagnosis for multiple epiphyseal dysplasia (MED) involves considering other skeletal dysplasias that may present with similar radiographic features.

Some conditions that can be considered in the differential diagnosis of MED include:

• Spondyloepiphyseal dysplasia: This condition is characterized by abnormalities in the spine and epiphyses, which can lead to delayed ossification and irregularities in the growth plates.
• Kniest dysplasia: A rare genetic disorder that affects the development of cartilage and bone, leading to short stature, joint deformities, and characteristic radiographic features.
• Scheuermann's disease: A condition characterized by abnormal curvature of the spine, which can lead to delayed ossification and irregularities in the growth plates.

These conditions can be distinguished from MED through careful examination of radiographs and clinical evaluation. For example:

• Spondyloepiphyseal dysplasia typically presents with more pronounced abnormalities in the spine compared to MED.
• Kniest dysplasia is often associated with short stature, joint deformities, and characteristic radiographic features such as "champagne cork" appearance of the epiphyses.
• Scheuermann's disease is characterized by abnormal curvature of the spine, which can lead to delayed ossification and irregularities in the growth plates.

A thorough evaluation of radiographs and clinical examination is necessary to establish a definitive diagnosis of MED and rule out other skeletal dysplasias. [7][3][4]