The Emergency Room physician calls Mr. Jones’s symptoms signs of a “cryptogenic stroke”, or a stroke of unknown origin (Chen, X., Chen S.-D., Dong, Y., & Dong, Q., 2018). The physician explains to Mr. Jones that the risk of him having another stroke-like event in the next ninety days is 3-17% without effective treatment (McCance & Huether, 2019). The question is, what predisposing factors and or undiscovered diagnoses have led to the patient’s current hospital admission and symptoms?
Differential Diagnosis 1
Primary Dyslipidemia leading to premature atherosclerosis
Dyslipidemia is defined as higher than normal levels of triglycerides, cholesterol, or low-density lipoprotein with a lower than normal level of high-density lipoprotein (McCance & Huether, 2019). The primary version of this disease is inherited and can be further defined based on which lab values are elevated. Unfortunately, this lipid disorder often has a low density lipoprotein (LDL) value of greater than 190, and comes with the premature development of atherosclerosis (McCance & Huether, 2019). Atherosclerosis is the hardening of the arteries due to increased plaque development and is the leading cause of both Coronary Artery Disease (CAD) and Cardiovascular Disease (CVD) (McCance & Huether, 2019).
Mr. Jones originally presents with left-sided weakness and a slight facial droop. Since atherosclerosis is the leading cause of both CAD and CVD, Primary Dyslipidemia could be the cause of the patient’s symptoms. The patient having CVD, high total cholesterol and low high-density lipoprotein (HDL) would all put him at significant risk for a Cerebrovascular Accident (CVA). This could be easily diagnosed by drawing a lipid panel and sending it to the lab. There could potentially be other signs and symptoms of a lipoprotein disorder such as xanthomas (collections of lipoproteins under the skin) or xanthelasmas (brownish discoloration of the skin) (McCance & Huether, 2019).
Since Mr. Jones had a full set of labs drawn on admission and all values in the lipid panel were within a normal range, the patients admitting symptoms are not linked to Primary Dyslipidemia. The Valsalva maneuver completed before the onset of symptoms may lead to the patient feeling lightheaded or other clinical manifestations of hypotension but is not clinically relevant for Primary Dyslipidemia. Due to Mr. Jones additional symptoms, and lipid panel results, Primary Dyslipidemia can be excluded from the differential diagnosis.
Differential Diagnosis 2
Sickle Cell Disease: Vaso-occlusive crisis
Sickle Cell Disease (SCD) is “a group of disorders that affects hemoglobin characterized by the presence of an atypical form of hemoglobin, Hbs, within erythrocytes and is inherited in an autosomal recessive pattern” (McCance & Huether, 2019). Since SCD is more common in individuals that have ancestors from Africa, Mr. Jones is at a higher risk of having the disease. According to McCance & Huether (2019), between one and three million Americans are heterozygous carriers and 70,000-100,000 Americans have SCD.
Mr. Jones originally presents with left-sided weakness and a slight facial droop. Since sickle-shaped hemoglobin is more prone to clumping together alongside vessel walls, Mr. Jones’s stroke-like symptoms could potentially be caused by a vaso-occlusion of a vessel, or vessels to the brain that could result in a stroke.
The patients admitting symptoms are most likely not linked to a Sickle Cell Vaso-occlusive crisis because although he has not been to a doctor since he was a child, Ohio and most other states include Sickle Cell Disease as a part of their newborn screening panel. Symptoms for SCD also normally manifest in the first 6-12 months of life, so the odds of a patient with Sickle Cell Disease making it to 40 years old before showing any signs of the disease would be very unlikely (McCance & Huether, 2019). The Valsalva maneuver completed before the onset of symptoms may link to a patient feeling lightheaded or other clinical manifestations of hypotension, but would not link to an increased risk of a CVA when connected with Sickle Cell Disease. Due to Mr. Jones additional symptoms, negative lab results and SCD screening being included in the state required newborn screening panel , Sickle Cell Disease can be excluded from the differential diagnosis.
Differential Diagnosis 3
Atrial Fibrillation
Atrial Fibrillation is a rapid, irregular heart rhythm that is the most common cardiac rhythm disorder (McCance & Huether, 2019). There is a wide variety of symptoms a patient with Atrial Fibrillation can present with, on one spectrum the disease can present with no symptoms at all, but could also manifest as fatigue, palpitations, dizziness or dyspnea (McCance & Huether, 2019). Individuals with Atrial Fibrillation are also four to five times more likely to have a stroke when compared to an individual who has not been diagnosed with Atrial fibrillation (McCance & Huether, 2019).
Mr. Jones originally presents with left-sided weakness and a slight facial droop which are clear manifestations of a stroke. Since the patient has not seen a doctor since he was a child, as well as his young age makes the thought of Mr. Jones having an irregular heart rhythm a real possibility. Even though Mr. Jones doesn’t smoke, he does have two other risk factors for Cardiovascular Disease which also increases his risk of a CVA: A modifiable risk factor of consuming alcohol as well as a non-modifiable risk factor of being a male (McCance & Huether, 2019).
The patients admitting symptoms are most likely not linked to Atrial Fibrillation since its main diagnostic test, a 12 lead electrocardiogram (EKG) was completed and analyzed as normal. The Valsalva maneuver completed before the onset of symptoms may link to a patient feeling lightheaded or other clinical manifestations of hypotension, but would not link to an increased risk of a CVA when connected with Atrial Fibrillation. Due to Mr. Jones additional symptoms, and normal EKG result, Atrial fibrillation can be excluded from the differential diagnosis.
Correct Diagnosis
Patent Foramen Ovale
A Patent Foramen Ovale (PFO) is the failure of a fetal shunt (Foramen Ovale) to close normally after birth. For the most part, people can live with Patent Foramen Ovale and have no symptoms or clinical manifestations. Although there are no symptoms, there is still leakage of unoxygenated blood. The patient only becomes symptomatic due to this disease when blood containing a blood clot travels through the PFO and to the brain, causing transient ischemic attacks or strokes. (American Heart Association, 2017)
The next day Mr. Jones completed his scheduled echocardiogram. Dr. Lewis, a cardiologist, met with James to discuss the results of his echocardiogram. James is relieved to hear that his heart function is healthy and although his right ventricle is slightly enlarged his ejection fraction is normal. Unfortunately, Dr. Lewis also explains that James has an abnormal opening in between his atria called a Patent Foramen Ovale.
The patients symptoms began while bearing down and straining to have a bowel movement. This is called the Valsalva maneuver. This maneuver increased the intrathoracic pressure which increased the atrial pressure and Patent Foramen Ovale size. This created a large enough space for the clot to pass through. The right ventricle is enlarged do to that side of the heart having to work harder, with the opening present, to get blood to its needed location.