OI and Common Medical Tests and Procedures

Facts about OI for Medical Professionals OI and Common Medical Tests and Procedures

Introduction This list summarizes issues of particular concern in treatment settings for people with osteogenesis imperfecta (OI). Medical care should be approached as for any other adult of similar age. No omissions should arise because of concern for OI. Patients with OI vary in height and mobility. This should be considered in exams, procedures and treatments. In general decreased respiratory reserve, undiagnosed cardiac problems may need to be discussed with the adult person with OI before consenting. Do not hesitate to ask the patient for information about their OI, advice about how to position them for an exam or x-ray or for treatment information based on their experience. Additional information can be found on the OI Foundation website, www.oif.org.

The OI Foundation is grateful to the medical professionals who contributed information to this chart. Dr. Cathleen Raggio, Hospital for Special Surgery, New York, NY; Dr. Robert Sandhaus, National Jewish Health, Denver, CO; Dr. Jay Shapiro, Bethesda, MD; Dr. David Vernick, Boston, MA; Dr. Leelach DeKoven, Shriners Hospitals for Children-Chicago

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Osteogenesis Imperfecta Foundation • 804 W. Diamond Ave, Suite 210 • Gaithersburg, MD 20878 www.oif.org • [email protected] • 844-889-7579 • 301-947-0083 Serving the OI community with information and support since 1970 Emergency Room

Emergency Room staff members are requested to contact the patient’s PCP or a physician who is familiar with the osteogenesis imperfecta as soon as possible. Adult patients with OI are often an excellent source of information about safe handling and whether a bone is likely to be broken. Patients with OI come to the emergency room most often for one of 4 reasons:  Fractures  Pulmonary Problem  Cardiovascular Problem  Accidental Trauma – Falls and car accidents may cause more extensive injury to the person with OI than the same amount of force would inflict on others. It may be necessary to look beyond the simple complaint. Anesthesia consultation should be considered before any procedure using conscious or complete sedation.

Topic General OI Concerns Notes Concerns

BLOOD WORK & Experienced technician Thin subcutaneous tissue; IV PLACEMENT Thin walled veins; Contractures and Distorted anatomy

In addition to myocardial CARDIOVASCULAR infarction, Heart valve CONCERNS disorders, right-sided heart failure, central & peripheral aneurysms are seen in OI

No contraindication. Must be Broken ribs and sternum performed being aware of chest CPR wall fracture and necessity of obtaining adequate airway.

Spine and neck deformity and fragile tissues INTUBATION complicate the procedure Restrictive pulmonary PULMONARY disease and infections are CONCERNS major risk factors for people with OI RADIOLOGIC RODS may interfere with Determine placement of rods in X-rays and MRIs arms, legs & spine; metal from PROCEDURES stapes surgery

Be aware of joint Do not try to straighten a curved X-Rays contractures and limb deformities that make positioning difficult Rods and stapes metal may Proceed with caution MRI interfere (heat up)

Radiation Concern for adequate Cumulative radiation dose is a CAT Scan exposure positioning consequence of treating OI and is not a contraindication for any treatment.

COMMON TESTS & PROCEDURES This list of common tests and procedures is in alphabetical order. Anesthesia consultation should be considered before any procedure using conscious or complete sedation.

Topic General OI Concerns Notes Concerns Arm curves and fracture Measure in a prudent interfere with measurement manner; manual cuff preferred; pediatric size cuff may be needed for some Blood Pressure adults; Do not avoid testing Thin subcutaneous tissue; Thin walled veins; Experienced technician BLOOD WORK & IV Contractures and PLACEMENT Distorted anatomy

Radiation risk is Short stature & Assist patient on and off minimal contractures may table. Bone Density/BMD complicate positioning Best to compare patient to self; no national norms for OI. CANCER SCREENINGS

Short stature; Accommodations for short chest deformity stature and/or inability to Mammogram stand

Oozing may be greater than expected. Mohs Surgery

Oozing may be greater than average Mole Biopsy

Deformity of pelvis and Pediatric equipment may be spine curves may needed Pap/Pelvic Exam complicate positioning

Chest deformity seen in Procedure should be done those with more severe OI under full staff supervision in ENDOSCOPY an appropriate acute care setting Higher risk if surgery before Screening is indicated. 1992 because of exposure Treatment is possible and Hepatitis C to untested blood products successful.

Distorted pelvic anatomy Appropriate when indicated LITHOTRIPSY

Headaches secondary to Evaluation for Basilar Neurological Basilar Impression; Impression Peripheral nerve compression; Neuropathy RODS may interfere with Determine placement of rods RADIOLOGIC X-rays and MRIs in arms, legs & spine; metal PROCEDURES from stapes surgery

Be aware of joint Do not try to straighten a contractures and curved limb X-Rays deformities that make positioning difficult

Rods and stapes metal may Proceed with caution interfere (heat up) MRI

Radiation Concern for adequate Cumulative radiation dose is a exposure positioning consequence of treating OI and is not a contraindication CAT Scan for any treatment.

VACCINATIONS Follow CDC All are highly Shot is recommended; the INCLUDING Flu & recommendations. recommended. live virus is not an option OI is considered a high risk PNEUMONIA population.

ADDITIONAL TESTS AND PROCEDURES ANESTHESIA  Anesthesia consultation should be considered before any procedure using conscious or complete sedation.  Dose by the person’s height and weight; not just age  Before surgery get a PFT, neck flexion study, pain medication list and history of reaction to anesthesia  Pulmonary function tests to include: FVC (forced vital capacity), MVV (Maximum voluntary ventilation) and measure of oxygenation and ventilation such as arterial blood gas  Take precautions regarding degree of restrictive lung disease

Topic General OI Concerns Notes Concerns Standard Head and neck abnormalities Usually, careful positioning and Concerns complicate airway use of a video assist device is management and positioning. sufficient for patient of concern. Abnormalities include megalocephaly, macroglossia, short neck, mid-face & mandibular deformities, limited range of motion of the cervical spine & dentinogenesis imperfecta. Teeth may be Intubation brittle and may break or chip. Patients generally Some reports and some review It is advisable to monitor exhibit articles have looked at temperature as per ASA hypothermia intraoperative standards, and use warming and under general hypermetabolism which is cooling devices as necessary to anesthesia manifested as hyperpyrexia maintain normothermia. OI because of with or without hypercarbia. DOES NOT have an associated impaired There is no substantiating increased risk with malignant thermoregulation. evidence to support this hyperthermia. Warming devices finding. Raised temperature are routinely used may occur, but it is NOT to maintain malignant hyperthermia. Hyperthermia normothermia. IV’s can be Positioning and existing Tourniquets can be used for IV challenging to fractures and bony protrusions access but only with special care place. may make IV access more and attention during the difficult. Risk of causing a positioning process. Access fracture. Neuroaxial Standard Bone and Spine deformities Regional anesthesia and and/or concerns may make these anesthetic Neuroaxial anesthesia have been adjuncts more challenging. safely used for OI patients. Care Regional should be used when Anesthesia positioning.

GASTROINTESTINAL  Tissue may be more fragile  Issues that may be evaluated include swallowing, stomach ulcers, constipation and various digestive complaints.

Topic General Concerns OI Concerns Notes Risk of perforation of colon Consider virtual colonoscopy or bow; Consider stool sample kit COLONOSCOPY Distorted anatomy

Chest deformity seen in Procedure should be done those with more severe OI under full staff supervision in ENDOSCOPY an appropriate acute care setting

HEARING  Hearing Loss is seen in about 50% of adults with OI and may get worse over time.  Discuss ototoxic drugs and ways to protect one’s hearing.

Topic General OI Concerns Notes Concerns Hearing General exam – normal May notice some increase in screening should appearance but drum may vascularity in middle ear start in appear thin and translucent Audiology Exam childhood No different than anyone else Note slanting canal

Cerumen (Wax) removal Work well Loss is conductive and Work just as well in OI May need earlier sensorineural in most; Start hearing monitoring in in life Loss is progressive so yearly childhood HEARING AIDS checks are important Is bone strong Bone likely not strong enough to Not recommended enough to hold hold the implant effectively (not implant? recommended in OI)

Bone Anchored When hearing Good results in OI Small studies indicate that the aids are not Need to be adjusted to account surgery can be successful enough for the decrease in bone density

Cochlear Implant May be option if Success rate not as high as with Greater success if physician is conductive loss non-OI surgery. Surgery is more experienced with procedure and is major part of difficult. with bone fragility hearing loss Increased risk of hearing loss Stapedectomy with surgery.

HEART  Baseline echocardiogram is suggested for young adults especially if there is a family history  Monitor for valve disease if there is a family history  Rate for hypertension is believed to be similar to that seen in others but some small studies suggest that it may be slightly higher.

Topic General OI Concerns Notes Concerns Chest wall deformities may A trans-esophageal make positioning difficult echocardiogram may be ECHOCARDIOGRAM needed for some patients

Medication may need to be adjusted to lower dose once HYPERTENSION readings stabilize

PULMONARY TESTING  Begin with a chest x-ray to evaluate chest architecture  Periodic pulmonary function tests are essential  Lung connective tissue is altered in all types of OI  Any endoscopic procedure must be done with advanced information about potential risks e.g. hypoventilation, bronchospasms.  Severity of symptoms is affected by the individual’s height, presence of spine curves.  Sleep Apnea is a concern but the incidence is unknown.  Pulmonary Function Test results must be compared to individuals’ previous values rather than calculated norms.  Predicted values are unreliable for those with short stature.

Topic General OI Concerns Notes Concerns Assure good Limbs distorted by multiple Significance of results the same Arterial Blood collateral fractures and surgery may as those without OI. circulation before make artery hard to find and Gas (ABG) drawing arterial stick. blood. Pulmonary Can be difficult to Added difficulties due to Compare patient to self because Function Tests perform in positioning issues, especially predicted values (based on children and for body box lung volumes. height) are unreliable for (PFT) and people with patients with short stature. Spirometry severe lung disease. Insurance Low strength; short stature; Beneficial reimbursement is fracture risk. Adapt equipment and exercises Pulmonary low or absent as needed Rehab Sleep problems Positioning may be difficult. Meet with center ahead of time are often Adequate study with good to assess ability to work with a overlooked by position is needed person of short stature with medical spine curves. Custom fitted mask Sleep Study professionals for CPap or BiPap may be needed due to facial deformities. Bring pillows and bolsters from own bed to study site. Measures percent of hemoglobin None Excellent, quick and inexpensive carrying oxygen; way to measure oxygenation. does not measure other values such as CO2 levels, pH, and CO levels. Oximetry Need ABG for that information. Positioning for test can be CT Scan of Significant difficult. Interpretation of radiation dose results can be difficult because Chest of distorted chest architecture.

SURGERY Elective surgery plan should include a pre-op anesthesia consultation. In addition pulmonary and cardiology consultations as indicated by the patient’s general health and the procedure. Persons with severe OI may have limited reserves.

Topic General OI Concerns Notes Concerns Bleeding may be greater and Review history of bleeding average during prior surgeries. Use techniques to minimize blood Bleeding loss.