Clinical Guidance

No known correlation exists between the nature of the TGFB1 pathogenic variants and the severity of the clinical or radiographic manifestations .

Source: GeneReviews — "Camurati-Engelmann Disease"

Penetrance

Some obligate heterozygotes with an identified TGFB1 pathogenic variant have had normal radiographs ; an exact penetrance figure is not known.

Source: GeneReviews — "Camurati-Engelmann Disease"

Diagnostic Criteria

No consensus clinical diagnostic criteria for Camurati-Engelmann disease have been published.

Suggestive Findings

Camurati-Engelmann disease (CED) should be suspected in individuals with the following clinical findings:

• Proximal muscle weakness

• Easy fatigability

• Bone pain primarily affecting the lower extremities

• Waddling gait

Establishing the Diagnosis

The clinical diagnosis of CED can be established in a proband with the characteristic radiographic findings or, if radiographic findings are inconclusive, a heterozygous pathogenic (or likely pathogenic) variant in TGFB1 identified by molecular genetic testing .

Clinical Diagnosis

The clinical diagnosis is based on the following radiographic findings:

Source: GeneReviews — "Camurati-Engelmann Disease"

Differential Diagnosis

Few disorders share the clinical and radiographic findings of Camurati-Engelmann disease (CED). The correct diagnosis is made by physical examination and skeletal survey. Table 3. Genes of Interest in the Differential Diagnosis of Camurati-Engelmann Disease

Management Guidelines

No clinical practice guidelines for Camurati-Engelmann disease (CED) have been published.

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with CED, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Table 4.

Camurati-Engelmann Disease: Recommended Evaluations Following Initial Diagnosis

System/Concern | Evaluation | Comment

Musculoskeletal

| Orthopedics/ physical medicine rehab/ PT OT eval to assess for weakness, contractures, bone pain, other musculoskeletal manifestations | To incl assessment of:

• Gross motor skills

• Mobility, ADL, need for adaptive devices

• Need for PT

Complete skeletal survey | Use of whole-body MRI to identify affected areas has been described.1

• Serum ESR

• Bone scan (scintigraphy) exam

| In those w/acute bone pain to assess disease activity

Neurologic

| Neurologic exam to assess for cranial nerve deficits headaches | In those w/sclerosis of skull base neurologic symptoms, consider head neck CT to determine extent of disease allow consideration of surgical treatment options.

Hearing

| Audiology eval for conduction /or sensorineural hearing deficits | In those w/hearing loss: BAER CT w/fine cuts through inner ear

Eyes | Ophthalmology exam to assess for blurred vision, proptosis, papilledema, epiphora, glaucoma |

Endocrine

| Assess pubertal development for other clinical manifestations of hypopituitarism. |

Cardiac

| Blood pressure | Baseline blood pressu...

Source: GeneReviews — "Camurati-Engelmann Disease"

Clinical Guidance

Excess phosphate. Treatment with cellulose phosphate led to worsening hypocalcemia and proximal myopathy in one individual.

Source: GeneReviews — "Camurati-Engelmann Disease"

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "Camurati-Engelmann Disease"

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended. Table 6. Camurati-Engelmann Disease: Recommended Surveillance

Source: GeneReviews — "Camurati-Engelmann Disease"