Thromophilia Case Summary

Treatment for epilepsy is often focused on controlling the seizures with the least amount of medication as possible. Antiepileptic drugs (AEDs) are the class used to accomplish this. Some of the AEDs that are used most often are Clonazepam, Diazepam, Divalproex, Gabapentin, and Phenytoin. The most common side effects of these medications include nausea, vomiting, sedation, fatigue, and lethargy. (Kwan,1; Benbadis, 3-5; Huethers,637)

In the past James used to experience chronic seizures. This used to hinder him from parenting his children. The father stated his seizures is not an issue as of now. Mr. Rusk has prescribed medicine by Dr. Kim Konieczki and Lazarus Mayoglou are Lyrica, Zintact, and Lamictal. When this worker spoke to Dr. Mayoglou and he stated, as long as James continues to take his medicine as prescribed his seizures should not be a concern.

Mrs. Dey reported she had been extremely sick with the anti-seizure medications and her primary care advised her to stop the current medication and go into the hospital. She was hospitalized overnight in observation and Dr. Hardy requested she come into his office the following Monday, September 11, 2017. Due to the unexpected appointment, I had a scheduling conflict and my colleague Laurie Wawrzynaik RN, BSN, MA, attended.

On the morning of the B.O.G, Taylor had a seizure on the bus on the way to school. School personnel determined that because of her drowsiness and being dazed following the seizure, she was not in the right frame of mind to test. We rescheduled the testing for the next day, for which she was absent. Subsequently, we have been waiting to give Taylor an opportunity to make up the test, however, she has been absent on September 12, 16, 19, 20, 21, 22, 23 and 26th. She has been in the hospital two of those days. Her mother reports that the seizures are getting worse and medication has been increased and a new medication has been added to the regimen. The medications are not having any effect on the frequency of the seizures and they are occurring

He reports he still has seizures "mostly brought on by stress" (Baker, Personal Communication, 2015). He currently takes the following prescriptions/supplements: Keppra, Lamictal XR, Carbidopa, Crestor, Hydroxyzine HCL, Melatonin, Omeprazole, Simvastatin, Hydrocodone/acetaminophen, omeprazole. He reports no alcohol or drug use outside of those prescribed, as well as no history of drug or alcohol abuse in his past.

Choosing an appropriate antiepileptic drug is the key to successful medical management of epilepsy in children. The choice of antiepileptic drug depends on several factors, of which the most important is accurate seizure classification. The other factors used to choose an appropriate antiepileptic drug include the side effect profile of the drug, The available age- and patient-appropriate preparations of the drug, Whether therapeutic levels are needed quickly or not (depending on the frequency and severity of the patient’s seizures), and the patient’s comorbidities.

We measured a panel of prothrombotic risk factors (Table 1) and detected hyperhomocysteinemia, and 4 heterozygous gene mutations, including MTHFR C677T and A1298C, glycoprotein GP3A and Fibrinogen- β G/A-455. Electrocardiogram and chest x-ray were normal, as well as the remaining routine laboratory tests, including differential blood cell count, protrombin and partial thromboplastin times, serum glucose, creatinine, electrolytes, liver enzymes, calcium, vitamin B12 and folate. Anti-nuclear, anti–single-stranded DNA, anti–double-stranded DNA, anti-cardiolipin, anti–SS-A/B antibodies were negative. She was treated with dexamethasone 5mg twice daily and LMW heparin (enoxaparin 60 mg twice

Factor V Leiden is the most common inherited form of thrombophilia (Stammers, Dorion, Trowbridge, Yen, Klayman, Murdock & Gilbert, 2005). Between 3 and 8 percent of people with European ancestry carry one copy of the factor V Leiden mutation in each cell, and about 1 in 5,000 people have two copies of the mutation (Stammers, Dorion, Trowbridge, Yen, Klayman, Murdock & Gilbert, 2005). People who inherit two copies of the mutation, one from each parent, have a higher risk of developing a clot than people who inherit one copy of the mutation. Considering that about 1 in 1,000 people per year in the general population will develop an abnormal blood clot, the presence of one copy of the factor V Leiden mutation increases that risk to 3 to 8 in 1,000, and having two copies of the mutation may raise the risk to as high as 80 in 1,000 (Stammers, Dorion, Trowbridge, Yen, Klayman, Murdock & Gilbert, 2005). Although, only about 10 percent of individuals with the factor V Leiden mutation ever develop

A more rare cause of thrombocytopenia in pregnancy is the immune thrombocytopenic purpura (ITP), an autoimmune disorder characterized by the anti-platelet glycoprotein antibodies that stimulate the platelet destruction in the spleen.6 There are two types of ITP: the acute form that is common in children, is associated with viral infections and is self-limiting and the chronic form which predominantly affects women. The diagnosis is clinical. Thrombocytopenia in ITP is generally moderate but with platelet count usually below 100,000/µL and the symptoms are in direct relation to the platelet levels. Patients could be completely asymptomatic or present ecchymosis, petechiae, purpura, gums bleeding or menorrhagia.1 Unlike gestational thrombocytopenia,

Hemophilia is the oldest known hereditary bleeding disorder. There are two types of hemophilia, A and B (Christmas Disease). Low levels or complete absence of a blood protein essential for clotting causes both. Patients with hemophilia A lack the blood clotting protein, factor VIII, and those with hemophilia B lack factor IX. A person with severe hemophilia has less than 1% of the normal amount of a clotting factor - either Factor VIII (8) or Factor IX (9). People without hemophilia have between 50-150% of the normal level of factor VIII or IX. There are about 20,000 hemophilia patients in the United States. Each year, about 400 babies are born with this disorder. Approximately 85% have hemophilia A and the remainder has hemophilia B.

Cerebral venous thrombosis (CVT) is a rare type of cerebrovascular disease, accounting for 0.5% of all strokes. The annual incidence of CVT ranges 3–4 cases per million populations CVT is a multifactorial disease, with at least one predisposing factor identified in 80% of patients, including hereditary thrombophilia, pregnancy and puerperium, postoperative state, intracranial or local infections and use of oral contraceptives. Genetic or acquired thrombophilia, identified in more than 20% of the CVT patients, is among the most frequent identified risk

Anticonvulsants have an edge with rapid-cycling and mixed mood states (e.g. depression with racing thoughts). Except for gabapentin (Neurontin) and lamotrigine (Lamictal), they require blood tests. Carbamazepine (Tegretol) is monitored with blood levels; also CBC, platelets and liver function tests. Valproate (Depakote) requires CBC, platelet count and liver function tests; blood levels may be helpful. Lamotrigine (Lamictal) requires caution because of its association with a rare but dangerous skin rash (exfoliative dermatitis); risk can be minimized by starting with low doses and increasing gradually. Use lower doses with medications that slow lamotrigine metabolism (e.g. valproate). Gabapentin is generally safe and does not require blood tests.

The second most common type of hemophilia is hemophilia B and is also known as factor IX deficiency, or the Christmas disease. It, like Hemophilia A, is an inherited disorder. It appears much less than Hemophilia A and occurs in “approximately 1 in 25,000 male births, and

People who may be especially interested and advised for testing might include couples with a family history of genetic disease, those that might have a birth defect, pregnant women over the age of 34, couples who already have a child with a genetic disorder, and couples concerned about specific disorders that occur more frequently within their ethnic group (March of Dimes 1997).

The principal mode of diagnosis is a differential diagnosis, and it includes a plethora of facets; bleeding from implantation site, which may be due to uterine atony, with predisposing factors such as infections, and retained placenta or abnormal placentation (Sheiner, 2011). Coagulation disorders and trauma are also essential facets considered during diagnosis (Sheiner, 2011). Conventionally, there are different methods used for the estimation of blood loss during diagnosis, and they are majorly classified as clinical and quantitative methods (Ricci & Kyle, 2009). Clinical method remains the primary means to