Family history, indications

A 7-year-old boy is referred by his school nurse for evaluation of hyperactivity accompanied by developmental delays in speech and motor skills. The nurse is concerned about his IQ tests, which indicate mild mental retardation. Family history indicates that his mother and maternal aunt both have learning disabilities and one of his maternal uncles lives in a group home for the mentally retarded. Physical examination shows that the boy is normo-cephalic and normally pigmented. 

Osteosarcoma has recently been diagnosed in a 12-year-old girl. Family history indicates that her paternal aunt died of breast cancer at age 29 after having survived treatment for an adrenocortical carcinoma. An uncle died of a brain tumor at age 38 and the patient s father, age 35, has leukemia. 

If the genetic bases of phenotypes are known, disease risks may be assessed before disease onset. This is desirable only if preventive or therapeutic action can be taken. Otherwise, the psychological burden for the individual may be unwarranted. Ideally, preventive steps are undertaken in due time. Pre-symptomatic screening is applied, if disease prevails in famihes (for example, breast cancer and variation in estrogen receptor subunits or Hunting-ton s disease). The same is trae for prenatal and newborn screening, if family histories indicate the need (for example phenylketonuria, galactosemia, hypothyroidism). 

The patient s family history indicated that a maternal uncle had died of an identical disease. This suggested that this disorder was inherited as an X-linked recessive condition. 

It has been recognized for some time that a family history of breast cancer is associated rather strongly with a woman s own risk for developing the disease. The percentage of all breast cancers in the population that can be attributed to family history range between 6% and 12%.8 Empirical estimates of the risks associated with particular patterns of family history of breast cancer indicate the following 8... 

T reatment is indicated for ocular hypertension if the patient has a significant risk factor such as IOP greater than 25 mm Hg, vertical cup-disk ratio greater than 0.5, or central corneal thickness less than 555 micrometers. Additional risk factors to be considered include family history of glaucoma, black race, severe myopia, and presence of only one eye. 

A 10-year-old girl is diagnosed with Marfan syndrome, an autosomal dominant condition. An extensive review of her pedigree indicates no previous family history of this disorder. The most likely explanation for this pattern is... 

A 9-year-old boy is referred for evaluation of his hearing. A note from his school principal explains that he is inattentive in class. Initial physical examination indicates that he is at the 10th percentile for height, has coarse facial features, and is somewhat macrocephalic however, the remainder of the examination is within normal limits. Audiometry results confirm partial bilateral deafness, which is sensorineural in etiology. An IQ examination shows that he is in the 60th percentile for intelligence. Family history of mucopolysaccharidoses prompts specialty testing, which indicates elevated levels of dermatan sulfate and heparan sulfate in both a skin biopsy and urine sample. 

Clinical and epidemiological studies indicate that more than 40% of individuals with TS experience recurrent obsessive-compulsive (OC) symptoms (King et al., 1998). Genetic, neurobiological, and treatment response studies suggest that there may be qualitative differences between tic-related forms of OCD and cases of OCD in which there is no personal or family history of tics. 

Because of the potential arrythmogenic properties of clomipramine, it is usually not employed as a first-line agent in uncomplicated OCD. Its use mandates an evaluation of the pediatric patient s medical condition and cardiac status in particular. Baseline evaluation should include a systems review and inquiry regarding a personal or family history of heart disease. A history of nonfebrile seizures should also be noted but is not an absolute contraindication to clomipramine. If in doubt, a general pediatric examination to include auscultation of the heart and measurement of pulse and blood pressure is indicated. A baseline (pretreatment) electrocardiogram (EKG) should be requested. While changes in conduction intervals and heart rate may occur, these are rarely of clinical significance. The prudent practitioner will evaluate and document EKG parameters. 

Mark profiles borderline and carefully examine family history for indication of psychological problems if-—... 

For many years, schizophrenia was divided into process (core) and reactive types. More recent investigations indicate that the reactive psychotic group has many affective, as well as schizophrenic features (e.g., family histories). This distinction is recognized in the DSM-IV ( 373) by such disorders as schizophreniform, schizoaffective, and brief reactive psychosis. 

Blood pressure and heart rate should be monitored at each visit during the dose titration phase to permit early detection of adverse effects. To minimize the risk of development of movement disorders or psychotic symptoms, psychostimulants should be used cautiously in any patient with a history of tics or psychotic symptoms, or with a family history of Tourette s syndrome or schizophrenia. Nevertheless, studies have shown that psychostimulants are effective in treating ADHD in patients with co-morbid Tourette s syndrome and that they do not exacerbate tics in the majority of such patients ( 88, 89). Furthermore, no evidence indicates that psychostimulants can lower the seizure threshold or cause seizures. 

Additionally, Noordsy and colleagues ( 405) contribute data indicating that a family history of alcoholism in alcoholic schizophrenics is associated with a more severe course of illness, greater resistance to treatment, and more frequent abuse of other drugs. 

A 25-year-old woman presents to the emergency department complaining of acute onset of shortness of breath and pleuritic pain. She had been in her usual state of health until 2 days prior when she noted that her left leg was swollen and red. Her only medication was oral contraceptives. Family history was significant for a history of "blood clots" in multiple members of the maternal side of her family. Physical examination demonstrates an anxious woman with stable vital signs. The left lower extremity demonstrates erythema and edema and is tender to touch. Ultrasound reveals a deep vein thrombosis in the left lower extremity chest computed tomography scan confirms the presence of pulmonary emboli. What are the likely risk factors in this woman—hereditary, acquired, or both What therapy is indicated acutely What are the long-term therapy options How long should she be treated Should this individual use oral contraceptives ... 

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