Beukes Familial Hip Dysplasia - Cause, Symptoms, and Management

Introduction

Beukes familial hip dysplasia is also called Cilliers-Beighton syndrome. It is a type of inherited bone dysplasia. Bone or skeletal dysplasias, in general, are conditions that affect the bones and cartilage. They come under types of dwarfism. However, not all skeletal dysplasias cause shorter height in the affected individuals. Beukes familial hip dysplasia was first identified in about 47 patients from six generations of an Afrikaner family in South Africa.

What Is Beukes Familial Hip Dysplasia?

Beukes familial dysplasia is a rare inherited disorder of the hip joint characterized by progressive degenerative osteoarthritis of the hip joint. Beukes familial hip dysplasia affects only the hip joint and is not associated with other health problems.

What Causes Beukes Familial Hip Dysplasia?

• Beukes familial hip dysplasia is caused by one or more genes that are not working properly. It is a genetic disease.

• Beukes mutation or changes in the UFSP2 gene cause familial hip dysplasia.

• Genes always come in pairs as one from each parent and are responsible for instructions to make proteins that help with development.

• Mutations in the UFSP2 may result in faulty protein, which can affect the development of the hip joint during fetal development.

• Beukes familial hip dysplasia is an inherited disorder from parents to their children.

• It is inherited in an autosomal dominant pattern. In the autosomal dominant inheritance pattern, the affected individual has inherited only one copy of the faulty gene from one of the parents.

• Not all persons with a mutated UFSP2 gene develop hip dysplasia, and the severity of the condition can vary widely among individuals of the same family.

What Are the Signs and Symptoms of Beukes Familial Hip Dysplasia?

The signs and symptoms vary among the affected individuals. Some people may have no symptoms, while others have significant hip pain and limited mobility. Symptoms start to appear from childhood as early as two years of age. In some cases, symptoms also start appearing in the late 30s.

• Hip pain and discomfort are the first symptoms to appear in early childhood or later in some cases.

• Gait disturbances and limping.

• Severe functional disability and limited mobility may occur in early adulthood due to the progressive degeneration of the hip joint.

• Limited involvement of other joints or the vertebral body.

• Height and the general health of the patient are not affected.

• Signs of secondary osteoarthritis and joint deterioration.

• Clicking or popping of the hip joint, especially on moving.

• Other clinical signs.

  • Abnormal bone formation in the head and neck part of the femur ( thigh bone).

  • Abnormal mineral content in the affected bones.

  • Broad femoral neck.

  • Osteoarthritis.

  • Hip dysplasia.

  • Rarely occurring symptoms include scoliosis, kyphosis, and coxa vara (a hip deformity).

How Is Beukes Familial Hip Dysplasia Diagnosed?

• Diagnosing Beukes familial hip dysplasia requires clinical evaluation, medical imaging, and genetic testing.

• During clinical evaluation, the healthcare provider will review the patient's medical history and perform a physical examination to assess the hip joint and look for signs of hip dysplasia, such as limited range of motion, hip pain, or gait disturbances.

• Medical imaging, such as X-rays and MRIs (magnetic resonance imaging), can be used to evaluate the hip joint.

• Some of the radiographic features present include flattened femoral heads and signs of degenerative osteoarthritis, such as marginal bone spurs, joint space narrowing, sclerosis, and periarticular cyst formation.

• Genetic testing may be recommended for confirming the diagnosis.

• It is important to note that Beukes familial hip dysplasia is a rare disorder and may be difficult to diagnose, especially in cases where symptoms are milder or not present.

• Sometimes, diagnosis may be made incidentally when imaging is performed for unrelated reasons.

How Is Beukes Familial Hip Dysplasia Managed?

There is no cure or any specific treatment protocol for Beukes familial hip dysplasia. Treatment is focused on managing the symptoms and improving the quality of life. Treatment procedures also vary depending on the severity of the condition.

Treatment options for Beukes familial hip dysplasia include

• Pain Management - Pain is a common symptom of Beukes hip dysplasia. Medications to reduce inflammation and manage pain are commonly prescribed.

• Physical Therapy - Physical therapy helps improve the hip joint's strength and flexibility. It can also help with pain management and joint mobility.

• Bracing - To stabilize the hip joint and prevent further damage, bracing is done in some cases.

• Walking Aids - Walking aids like walking sticks, walkers, and crutches can help by supporting the body weight and preventing excess weight on the damaged hip. This can also help reduce pain during walking and helps with a steadier gait.

• Surgical Treatment - Surgical options are used when the other conservative treatments do not improve the symptoms. Surgery is recommended in severe cases of Beukes familial hip dysplasia. Surgical treatment most commonly done is joint reconstruction or total hip joint replacement.

The treatment plan for every patient is tailored according to their needs and goals. Regular check-ups and monitoring are also essential to manage symptoms and prevent complications.

What Are the Differential Diagnosis of Beukes Familial Hip Dysplasia?

Differential diagnosis is the process of distinguishing two or more conditions that have similar features or symptoms. The following conditions are considered in the differential diagnosis of Beukes familial hip dysplasia.

• Developmental dysplasia of the hip occurs in young children where the hip joint is not fully developed, and symptoms of the condition are similar to Beuke's familial hip dysplasia.

• Osteoarthritis is a degenerative joint disease affecting the hip joint and causing pain and limited mobility, similar to Beuke's hip dysplasia.

• Rheumatoid arthritis is an autoimmune disorder that may affect the hip joint.

• Avascular necrosis of the hip joint.

• Legg-Calve-Perthes disease.

Conclusion

Beukes familial hip dysplasia is a rare genetic condition affecting the development of the hip joint. The prognosis of Beukes familial hip dysplasia varies depending on the severity of the hip dysplasia and how well it is managed. With appropriate treatment, many individuals with Beukes familial hip dysplasia can manage their symptoms and maintain a good quality of life.