In this case, the patient had a relevant past medical history of autosomal dominant polycystic kidney disease (ADPKD). The patient had previously informed her family care physician, who she had been seeing for many years, that her father died from a brain aneurysm. However, the physician never screened the patient for an intracranial aneurysm. Ultimately, she died from an intracerebral hemorrhage caused by an aneurysm.
Approximately one in every 1000 people is affected by autosomal dominant polycystic kidney disease (ADPKD). ADPKD is relatively uncommon in the United States and fewer than 300,000 cases are diagnosed each year. There are numerous types of vascular manifestations in ADPKD, including intracranial aneurysms. Intracranial aneurysms occur infrequently (5%–9%). However, intracranial aneurysms occur more than three to five times more often in patients with ADPKD than in the general population.
In ADPKD, it is crucial to identify and reduce risk factors that may contribute to intracranial aneurysm formation. In ADPKD, ruptured intracranial aneurysms are associated with significant morbidity and mortality (between 40% and 60%). To determine the risk for the formation and rupture of intracranial aneurysms in ADPKD patients, particularly those with a family history of intracranial aneurysm ruptures, physicians should follow the patient carefully and for an extended period of time. The risk factors for intracranial aneurysm formation include smoking, hypertension, and family history. The physician failed to screen this ADPKD patient for an intracranial aneurysm, significantly impacting her chances of survival.
Expert Witness Q&A
- Under what circumstances should one screen a patient with ADPKD for an intracranial aneurysm?
- Is ADPKD a risk factor for intracranial aneurysms?
- Did the family medicine physician’s failure to screen for an aneurysm contribute to the death of the patient?
Expert Witness Involvement
Family Medicine Expert
A family medicine expert can speak to the standard of care for a patient with a family history of intracranial aneurysm and ADPKD. This expert can also opine on whether the failure to screen was a violation of the standard of care in this case. The expert can also address mortality rates with and without a timely diagnosis.