Screening Family Members Of Patients Research Articles

The Significance of Screening Family Members in Glaucoma: Opportunities and Challenges.

This article delves into the imperative of screening family members of patients with glaucoma due to the disease's hereditary nature. It discusses the significant risks faced by first-degree relatives, approaches for identification, and challenges in implementing effective screening strategies. Emphasizing education, targeted campaigns, community involvement, and collaborative healthcare approaches, the article highlights the potential for mitigating undiagnosed glaucoma cases through strategic interventions targeting high-risk individuals. This article underscores the importance of screening family members of glaucoma patients, emphasizing the hereditary nature of the disease and the potential for screening to allow for early intervention to help prevent unnecessary vision loss. Glaucoma, affecting over 111.8 million by 2040, is relatively asymptomatic until late in the disease. Genetics predispose to glaucoma, with up to 70% heritability. High-risk individuals, particularly first-degree relatives, exhibit substantially elevated glaucoma risks-up to 22% compared with 2.3% in controls. Family history also correlates with greater disease severity. Identifying high-risk family members through cascade screenings for causative genes or direct examinations during proband visits emerges as efficient strategies. Challenges persist, including slow progression, healthcare accessibility, and ethical dilemmas in implementing family member screening. Challenges extend to the healthcare system, socioeconomic barriers, and familial communication issues. Efforts to educate probands and the public on the hereditary nature of glaucoma are pivotal. Tailored education campaigns, leveraging clinic visits, and community screenings, complemented by optometrist collaboration, form essential strategies. Although challenges hinder family member screening, educating probands, targeted patient education, collaborative healthcare approaches, and community involvement offer promising avenues to combat undiagnosed glaucoma cases.

Design of a Controlled Trial of Cascade Screening for Hypercholesterolemia: The (CASH) Study.

To inform guidelines for screening family members of patients with familial hypercholesterolemia (FH), we designed a clinical trial to compare the yield of cascade screening in FH patients with and without an identifiable pathogenic variant. Participants with hypercholesterolemia (Low-density lipoprotein cholesterol (LDL-C) > 155 mg/dL) underwent sequencing of LDLR, APOB, and PCSK9 and genotyping of six single nucleotide polymorphisms associated with LDL-C followed by calculation of a polygenic score for LDL-C. We identified 24 patients with definite FH (pathogenic variant in one of the three FH genes), 76 patients with probable FH (Dutch lipid clinic network (DLCN) score ≥ 6, no pathogenic variant), and 262 patients with possible FH (DLCN score 3–5, no pathogenic variant). We will enroll 50 patients with definite FH by recruiting an additional 26 from the FH Clinic at Mayo and 50 patients each with probable and possible FH, matching on age and sex. Family members of patients with definite FH will undergo testing for the relevant pathogenic variant using saliva kits and family members of those with probable/possible FH will have a lipid profile checked. We will assess the number of new cases detected (defined as presence of a pathogenic variant in the family member of definite FH patient or LDL-C > 155 mg/dL (>130 mg/dL in children) in family members of probable/possible FH patients, and the cost of detecting a new case. The proposed clinical trial will compare the yield and cost of cascade screening for FH patients with/without an identifiable pathogenic variant, and thereby inform guidelines for cascade screening for FH.

IGSF1 deficiency syndrome: A newly uncovered endocrinopathy.

A recently uncovered X-linked syndrome, caused by loss-of-function of IGSF1, is characterized by congenital central hypothyroidism and macroorchidism, variable prolactin deficiency, occasional growth hormone deficiency, delayed pubertal testosterone secretion and obesity. We propose to call this endocrinopathy “IGSF1 deficiency syndrome.” Based on an estimated incidence of isolated congenital central hypothyroidism of 1:65,000, we predict that the incidence of IGSF1 deficiency related hypothyroidism is approximately 1:100,000. IGSF1 encodes a plasma membrane immunoglobulin superfamily glycoprotein that is highly expressed in pituitary and testis, but is of unknown function. The variable profile of pituitary dysfunction suggests that IGSF1 may play a role in pituitary paracrine regulation. The clinical significance of the syndrome, particularly the clinical consequences of untreated hypothyroidism, justifies screening family members of patients with IGSF1 mutations for carriership and to study potential carriers of IGSF1 mutations, including patients with idiopathic central hypothyroidism, combined GH and TSH deficiency, macroorchidism or delayed puberty.

Osteomyelitis of the jaws associated with osteopetrosis: case report of two sisters

AbstractOsteopetrosis is a rare metabolic bone disease caused by a congenital defect in the development or function of the osteoclasts, resulting in generalised increase in skeletal mass. Osteomyelitis is a recognised complication, and prevention of dental infections can be difficult. Osteomyelitis is typically located in the mandible; the disease can also occur in the maxilla, but only rarely. We describe two cases of osteopetrosis complicated with osteomyelitis that occurred in sisters. In one sister, osteomyelitis was located in the mandible; in the other sister, the disease occurred in the maxilla. The sisters received antibiotic treatment, as well as incision and drainage of the fluctuant areas and removal of sequestra with minimal surgical trauma, after which they both improved satisfactorily. These cases underscore the importance of screening family members of patients with osteopetrosis for early detection and appropriate intervention.

Genetic Testing Prior to Serologic Screening in Family Members of Patients with Celiac Disease as a Cost Containment Method

Purpose: Family members of patients with celiac disease (CD) have increased rates of developing CD over their lifetime, with up to 3% seroconverting 5 years after an initial negative result. Repeat testing of family members 5 years later would improve CD diagnosis rates, but at significant cost. Genetic testing prior to screening family members for CD would potentially reduce these screening costs by eliminating HLA-DQ2 and DQ8 negative patients who are at extremely low risk for developing CD. Methods: Decision analysis was used to compare the costs of screening family members of patients with CD. The decision tree incorporated three diagnostic branches: initial screening with anti-tissue transglutaminase (tTG), repeat screening with tTG at 5 years later, and genetic testing prior to screening with tTG. Costs were estimated using Medicare reimbursement fees. Modeling and sensitivity analyses were performed using Tree Age Pro 2006 (Williamstown, MA). Results: The cost of an initial screening with tTG of family members of patients with CD is approximately $434 per person. Repeat screening at 5 years later would cost $683 per person, which is an additional $249, but would diagnosis an additional 4.4% cases of CD. Genetic testing prior to screening family members would be slightly more costly, at $750 per person, but would lower endoscopy workload by nearly 25% when compared to repeat screening at 5 years without genetic testing. The cost of genetic testing would have to decrease from $301.40 to $234.40, a difference of $67, to justify its use prior to serologic testing. As the specificity of tTG approaches 100%, the cost of genetic testing would have to continue to decrease to less than $200 in order for it to be an affordable option. Conclusion: Repeat screening with tTG of family members of patients with CD results in a significant increase in cost, but also an associated increase in CD cases diagnosed. Genetic testing would potentially eliminate up to 60% of the population to be screened and, if available at a lower cost, would partially offset costs of repeat serologic screening.

Acute brucellosis in Saudi families: Relationship between brucella serology and clinical symptoms

To determine if screening family members of patients with acute brucellosis will enhance the detection rate of brucellosis and also to determine the relationship between symptoms and brucella serology. Family members from patients with acute brucellosis were interviewed and serologically screened. All seropositive family members were clinically and serologically followed for six months. Twenty-five acute brucellosis patients and their 178 family members were enrolled from January 2001 to February 2002. Of the 178 family members, 40 (23%) manifested various symptoms, 138 (77%) were asymptomatic, with an overall seroprevalence rate of 34 (19%). The rate of seropositivity among the symptomatic family members was 23 (58%) and for the asymptomatic was 11 (8%) (P<0.001). The majority of the symptomatic family members (13 (57%)) had a high Brucella titer in comparison to one (9%) of the asymptomatic group (P<0.001). Acute brucellosis was diagnosed and treated in 18 (78%) of the symptomatic seropositive family members and in four (36%), of the asymptomatic seropositive family members with an acute brucellosis prevalence rate of 22 (12%). All family members with acute infection recovered without sequelae; one patient relapsed (5%). Symptomatic family members are more likely to be seropositive with a high titer in comparison to the asymptomatic members.

Screening family members at high risk for coronary disease: Why isn’t it done?

Background: The National Cholesterol Education Program strongly recommends screening family members of patients with early cardiovascular disease (CVD) for coronary risk factors, but the physician and patient compliance with this recommendation has not been extensively studied. The American College of Cardiology Evaluation of Preventive Therapeutics (ACCEPT) study, a national survey conducted in 1996–1997, determined if physicians were screening first-degree relatives of patients with early CVD. Setting/Participants: The ACCEPT study included 5553 patients with either their first bypass surgery, first angioplasty, an acute myocardial infarction, or myocardia ischemia, admitted to 53 hospitals throughout the United States. Main Outcome Measure: Self-reported screening of first-degree relatives obtained by interview follow-up 6 months after event. Results: Less than 1% of inpatient medical records contained a discharge plan by the physician recommending screening family members of patients younger than age 55. Only 17.8% of these patients had their family screened within 6 months of their cardiovascular event, while only 19.6% with a recognized family history of premature coronary artery disease had their family screened. The only factors that were significant ( p<0.05) predictors of successful family screening were education (19.4%), having high cholesterol (16.4%), being widowed (18.1%), not smoking (16.4%), and being black (20.5%). Conclusions: U.S. physicians do not appear to follow national recommendations for the screening of family members of their high-risk patients. These data also suggest that physicians are not ready to use and exploit known genetic factors in treating CVD even as the human genome data become available for clinical use.

Population screening in hereditary hemochromatosis.

Hemochromatosis is a common autosomal recessive condition found in the homozygous state in 1/200-1/400 people of northern-, central-, and western-European origin. It causes increased iron storage, which may lead to liver cirrhosis, liver cancer, heart disease, arthritis, and diabetes in many but not all affected adults, with a higher frequency in males. The condition is easily treated by repeated venesections without side effects but is frequently overlooked. Population screening of adults using iron indices alone or combined with DNA testing has therefore been recommended, but a consensus conference in 1997 recommended that such screening be deferred, owing to uncertainty regarding the extent of clinical disease that may develop in individuals detected by such programs. There was also concern that DNA screening results might be used for discrimination in insurance and occupational settings. Screening family members of patients with evidence of definite iron loading, however, is accepted by all observers. Because serious complications may be overlooked, a more aggressive stance toward case detection in the adult population has been advocated by some observers, realizing that unnecessary treatment might occur. Because additional information regarding the spectrum of clinical disease in homozygotes in now accumulating, a consensus conference in the near future is suggested to consider appropriate policies.

Screening family members of patients with hereditary hemorrhagic telangiectasia

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant inherited disorder which may give rise to arteriovenous malformations in lungs and brain. When left untreated, these may cause serious complications. We screened family members of HHT patients for presence of the disease and associated pulmonary or cerebral arteriovenous malformations. We investigated 98 family members of HHT patients on an outpatient basis. A stepped screening protocol was used based on prevalence of different manifestations of HHT. Thirty-six cases of HHT were found in the 98 persons screened. Pulmonary arteriovenous malformations were found in 12 of the 36 patients (33%), and cerebral arteriovenous malformations in 4 (11%). Therapy was recommended in 9 patients with pulmonary arteriovenous malformations and in 2 with cerebral arteriovenous malformations. Family members of known HHT patients should be encouraged to engage in a screening program, since the prevalence of potentially serious localizations is higher than previously thought.

Practices and beliefs concerning screening family members of patients with melanoma: Results of a survey of New England dermatologists

First-degree relatives of patients with melanoma are roughly two to eight times more likely than the general public to be diagnosed with melanoma. Several organizations recommend regular screening for these and other persons at high risk for melanoma. However, there are no data as to how frequently such persons receive skin cancer examinations. Our purpose was to determine the current screening recommendations and practices of dermatologists regarding family screening for melanoma. With a one-page questionnaire, we surveyed dermatologists attending a 1989 meeting of the New England Dermatological Society. Seventy-three dermatologists completed the questionnaire. Most dermatologists (70%) reported that they encouraged screening of family members of patients with melanoma but also reported that family members infrequently appeared for skin examinations. Although most dermatologists encouraged screening of first degree relatives of melanoma patients, there appears to be infrequent acceptance by the patient of these recommendations. Recording family screening in the patients' charts, reminders to patients, and distributing literature on familial melanoma may increase acceptance by the patient of these recommendations.

Familial Macroglobulinemia in a Lebanese Family with Two Sisters Presenting Waldenström's Disease

We report a non-consanguineous family with ten children, in which two sisters were found to have Waldenström's disease with light chain IgM monoclonal components. Immunoglobulins were examined in four siblings and revealed high serum IgM concentrations with no monoclonal component. This additional case of familial Waldenström's macroglobulinemia stresses the usefulness of screening family members of patients with monoclonal gammopathy since they may be at high risk of developing the disease.