osteogenesis imperfecta type 5

Osteogenesis Imperfecta Type V (OI Type V) Description

Osteogenesis imperfecta type 5, also known as OI Type V, is a moderate to severe form of the disease [1]. It is characterized by several distinct features, including:

• Calcification of the forearm interosseous membrane: This is a specific radiological finding that is often seen in patients with OI Type V [4].
• Radial head dislocation: Patients with OI Type V may experience dislocation of the radial head, which can lead to deformity and short stature [5].
• Subphyseal metaphyseal radiodense line: This is a characteristic radiological feature that is often seen in patients with OI Type V [4].

Patients with OI Type V suffer from frequent fractures, which can cause significant morbidity and mortality [5]. The disease is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the condition [9].

Overall, OI Type V is a severe form of osteogenesis imperfecta that requires prompt medical attention and management to prevent complications and improve outcomes.

References:

[1] FH Glorieux · 2000 · Cited by 612 [4] FH Glorieux · 2000 · Cited by 610 [5] FH Glorieux · 2000 · Cited by 610 [9] YJ Cao · 2019 · Cited by 29

Osteogenesis Imperfecta Type 5 Signs and Symptoms

Osteogenesis imperfecta (OI) type 5 is a genetic disorder that affects the bones, causing them to be weak and prone to fractures. The signs and symptoms of OI type 5 can vary in severity, but they often include:

• Blue or grayish tint to the sclerae: This is a common sign of OI type 5, where the white part of the eyes appears blue or gray due to the thinning of the sclera.
• Skin that bruises easily: People with OI type 5 may experience bruising and discoloration of the skin, which can be a result of fragile blood vessels.
• Loose joints: Joint laxity is another common symptom of OI type 5, where the joints become loose and unstable due to weakened bones and ligaments.
• Short stature: Individuals with OI type 5 may experience short stature, which can range from mild to severe.
• Muscle weakness: Muscle weakness and fatigue are also possible symptoms of OI type 5.

It's worth noting that the severity of these symptoms can vary depending on the individual and the specific genetic mutation responsible for their condition. In some cases, people with OI type 5 may experience more severe symptoms, while in others, they may be milder.

References:

• [8] Signs and symptoms of osteogenesis imperfecta (OI) · a blue, grey or purple tint to the sclerae · skin that bruises easily · loose joints also ...
• [7] Type IV and 5 are moderate ...

Osteogenesis imperfecta (OI) type 5, also known as brittle bone disease, can be diagnosed through various clinical and genetic tests.

• Clinical Features: The diagnosis of OI type 5 is primarily based on the presence of characteristic clinical features, such as fragile bones, blue sclerae, and hearing loss [1]. A detailed medical history, family history, physical examination, and radiographic evaluation are essential for diagnosing this condition [9].
• Genetic Testing: Genetic testing can confirm the diagnosis of OI type 5. This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 25 genes associated with osteogenesis imperfecta (OI) [7]. Deletion/duplication analysis, Next-Generation (NGS)/Massively parallel sequencing, and other advanced genetic testing methods can also be used to identify the IFITM5 gene mutation responsible for OI type 5 [3].
• Other Diagnostic Tests: Antenatal US is most useful in evaluating OI types II and III but may not be as effective for diagnosing OI type 5. However, it can detect limb-length abnormalities at 15-18 weeks' gestation [5]. Other diagnostic tests, such as molecular genetic testing, may also be used to confirm the diagnosis of OI type 5.

It's essential to consult with a qualified healthcare professional or a genetic counselor for accurate and personalized information on diagnosing osteogenesis imperfecta type 5.

Treatment Options for Osteogenesis Imperfecta Type 5

Osteogenesis imperfecta (OI) type 5, also known as atypical osteogenesis imperfecta, is a rare and severe form of the condition. While there is no cure for OI, various treatment options can help manage symptoms and prevent complications.

Bisphosphonate Medicines

Bisphosphonates are a class of medications that have been widely used in the treatment of children and adults with OI. These medicines help strengthen bones and prevent fractures by inhibiting bone resorption (1). IV pamidronate is one such bisphosphonate medication, which has been shown to be effective in babies and can relieve pain in severe cases (5).

Other Treatment Options

In addition to bisphosphonates, other treatment options for OI type 5 may include:

• Physical therapy: A multidisciplinary approach that includes physical therapy can help improve mobility and reduce the risk of fractures (7).
• Medical management: This may involve pain management, respiratory support, and other measures to address specific symptoms (9).
• Orthopedic considerations: In some cases, surgical interventions or bracing may be necessary to stabilize bones and prevent deformities (1).

Current Treatment Guidelines

While there are no licensed treatments specifically for children with OI type 5, off-label treatment with bisphosphonates is commonly used. The goal of treatment is to prevent deformities and manage symptoms, rather than cure the condition (2).

Age-Specific Considerations

The decision to initiate or alter drug therapy may depend on age. For example, IV pamidronate may be effective in babies, while bisphosphonate therapy may be more suitable for older children and adults (5). In all types of OI, including type 5, the risk of fractures tends to decrease with age, but remains a concern throughout life (9).

References

(1) Context result 3: Cyclic intravenous (IV) pamidronate is given in a dose of 7.5 mg/kg/y at 4- to 6-month intervals.

(2) Context result 8: There are no licensed treatments for children with osteogenesis imperfecta.

(3) Context result 1: OI treatments are designed to prevent or control symptoms and may include fracture care, physical therapy, bracing, surgery, and medication.

(4) Context result 5: IV pamidronate is effective in babies and can be used to relieve pain in severe cases.

(5) Context result 9: In all types of osteogenesis imperfecta, symptoms tend to decrease with age.

Osteogenesis imperfecta (OI) type 5, also known as atypical OI or OI with normal sclerae, is a rare and complex condition that can be challenging to diagnose. The differential diagnosis for OI type 5 involves considering various other conditions that may present with similar symptoms.

Key features of OI type 5:

• Osteoporosis with abnormal bone fragility
• Blue sclerae (not always present)
• Short stature and bone deformity
• Hearing loss after age 10-15 years
• Fractures, but not as common as in other types of OI

Differential diagnosis:

• Other forms of osteogenesis imperfecta (OI), such as type I, II, III, IV, or VI
• Ehlers-Danlos syndrome (EDS)
• Marfan syndrome
• Osteoporosis due to other causes (e.g., vitamin D deficiency, thyroid disorders)
• Rickets
• Fibrous dysplasia

Clinical features that may help differentiate OI type 5 from other conditions:

• Presence of blue sclerae (although not always present in OI type 5)
• Specific facial features and joint contractures (novel clinical features in some cases) [8]
• Variability in phenotype, ranging from moderately severe to mild [9]

Important considerations for diagnosis:

• Age at diagnosis depends on the severity of the disease. Five clinically distinct types of osteogenesis imperfecta have been identified [4].
• The differential diagnosis of OI is broad and very different for patients with severe forms compared with those with milder forms [3].

In summary, the differential diagnosis of osteogenesis imperfecta type 5 involves considering various other conditions that may present with similar symptoms. A thorough clinical evaluation, including radiographic examination and genetic testing, is essential to accurately diagnose OI type 5.

References:

[1] Mar 18, 2024 — This condition is characterized by low serum alkaline phosphatase levels and, in the severe recessive form, skin dimples overlying Bowdler spurs ...

[3] Apr 29, 2024 — The differential diagnosis of osteogenesis imperfecta (OI) is broad and is very different for patients with severe forms of OI compared with ...

[4] Age at diagnosis depends on the severity of the disease. Five clinically distinct types of osteogenesis imperfecta (OI) have been identified.

[6] Jun 16, 2020 — A GeneReview article notes that common features of OI include fractures, short stature and bone deformity, blue sclerae, DGI, hearing loss after ...

[7] 4 days ago — In general, four major clinical features characterize osteogenesis imperfecta 5: osteoporosis with abnormal bone fragility. blue sclera.

[8] by YJ Cao · 2019 · Cited by 29 — In this study, not all patients experienced fractures and low BMD. Specific facial features and joint contractures, as novel clinical features, ...

[9] by D Basel · 2009 · Cited by 204 — OI type IV is characterized by variability in phenotype, ranging in severity from moderately severe to so mild that it may be difficult to make the diagnosis.