jdarsee
Critical Care

Bone fractures in a 24-year-old man

A 24-year-old patient presented with chronic low back pain following a low-energy trauma having occurred while practicing sports. Past medical history was significant for a Colles fracture, and two childhood finger fractures. He did not consider the occurrences unusual or alarming and did not pursue further evaluation at that time. Otherwise, the patient was healthy with no history of smoking or drinking alcohol. He denied any previous chronic diseases and reported the intake of an adequate calcium diet.

After a recent vertebral compression fracture and a second Colles fracture, he became worried, and sought medical care because of continued pain and functional loss.

The patient's family history was also remarkable for osteoporosis and recurrent fractures in several relatives. On physical examination, the patient was below average height, and blue-gray sclera were observed. He had mild scoliosis and local tenderness in the lumbar spine.

Imaging showed a compression fracture at L1 and severe osteoporosis for his age. Laboratory investigation ruled out a secondary cause of bone fragility. He was evaluated by a genetic specialist which led to a diagnosis of osteogenesis imperfecta. Family members were provided with genetic counseling. This case highlights the possibility of adult osteogenesis imperfecta presenting late when the patient is otherwise well and does not seek medical attention until multiple fractures occur.

Osteogenesis imperfecta is a genetically heterogeneous connective tissue disorder marked by bone fragility, skeletal deformities, and varying clinical severity due to mutations primarily affecting collagen type I synthesis, structure, and processing. Advances in gene discovery have revealed multiple dominant and recessive mechanisms, shifting disease classification and paving the way for more targeted diagnosis and therapeutic approaches.

Diagnosis added by author
Osteogenesis imperfecta

Case summaries:

A 16-year-old girl, a ballet dancer, visited her primary care provider with complaints of abnormally lax and stretchy skin on the arms. She denied pain, however, and had a history of frequent joint sprains and easy bruising the majority of her life which she believed was related to her dance training. Physical examination revealed that her skin was on the more hyperextensible side, particularly over upper arms, and poorly elastic wrinkled at knees area with mild atrophic scarring.

Initial laboratory assessment indicated all parameters within reference intervals. Platelet count and function tests were normal. Based on her articular signs, radiographs of large joints were ordered.

In view of the clinical presentation consisting of skin hyperextensibility and joint laxity as well as mild cardiac involvement, genetic consultation was sought. A molecular genetics study led to the diagnosis of Ehlers-Danlos syndrome (type classic). The patient and her family were counseled on activity restrictions, cardiac follow-up and injury avoidance measures. Multispecialty follow-up was scheduled including physical therapy, cardiology and genetics.

A 52-year-old man presented with a 20-minute history of chest pain radiating to the left shoulder and neck, associated with dyspnea and diaphoresis. He had a history of hypertension, long-term smoking, and a sedentary lifestyle. On physical examination, bibasilar crackles were noted on lung auscultation. An electrocardiogram (ECG) was performed in the primary care setting, and the patient was promptly referred to the emergency department.