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Pulmonary Hypertension in Sickle Cell Anemia

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421. Osteoporosis (Secondary) (Overview)

Ankylosing spondylitis Rheumatoid arthritis Systemic lupus erythematosus Hematologic and neoplastic disorders Hemochromatosis Hemophilia Leukemia Lymphoma Multiple myeloma Sickle cell anemia Systemic mastocytosis Thalassemia Metastatic disease Medications Anticonvulsants Antipsychotic drugs Antiretroviral drugs Aromatase inhibitors Chemotherapeutic/transplant drugs: cyclosporine, tacrolimus, platinum compounds, cyclophosphamide, ifosfamide, high-dose methotrexate [ ] Furosemide Glucocorticoids (...) difficulties may be evident, especially in patients with an altered center of gravity from severe kyphosis. [ ] Patients may have difficulty performing tandem gait and performing single limb stance. See for more detail. Diagnosis Baseline laboratory studies include the following: Complete blood count: May reveal anemia Serum chemistry levels: Usually normal in persons with primary osteoporosis Liver function tests Thyroid-stimulating hormone level: Thyroid dysfunction has been associated with osteoporosis

2014 eMedicine.com

422. Osteoporosis (Overview)

Ankylosing spondylitis Rheumatoid arthritis Systemic lupus erythematosus Hematologic and neoplastic disorders Hemochromatosis Hemophilia Leukemia Lymphoma Multiple myeloma Sickle cell anemia Systemic mastocytosis Thalassemia Metastatic disease Medications Anticonvulsants Antipsychotic drugs Antiretroviral drugs Aromatase inhibitors Chemotherapeutic/transplant drugs: cyclosporine, tacrolimus, platinum compounds, cyclophosphamide, ifosfamide, high-dose methotrexate [ ] Furosemide Glucocorticoids (...) be evident, especially in patients with an altered center of gravity from severe kyphosis. [ ] Patients may have difficulty performing tandem gait and performing single limb stance. See for more detail. Diagnosis Baseline laboratory studies include the following: Complete blood count: May reveal anemia Serum chemistry levels: Usually normal in persons with primary osteoporosis Liver function tests Thyroid-stimulating hormone level: Thyroid dysfunction has been associated with osteoporosis 25

2014 eMedicine.com

423. Osteoporosis (Primary) (Overview)

Ankylosing spondylitis Rheumatoid arthritis Systemic lupus erythematosus Hematologic and neoplastic disorders Hemochromatosis Hemophilia Leukemia Lymphoma Multiple myeloma Sickle cell anemia Systemic mastocytosis Thalassemia Metastatic disease Medications Anticonvulsants Antipsychotic drugs Antiretroviral drugs Aromatase inhibitors Chemotherapeutic/transplant drugs: cyclosporine, tacrolimus, platinum compounds, cyclophosphamide, ifosfamide, high-dose methotrexate [ ] Furosemide Glucocorticoids (...) difficulties may be evident, especially in patients with an altered center of gravity from severe kyphosis. [ ] Patients may have difficulty performing tandem gait and performing single limb stance. See for more detail. Diagnosis Baseline laboratory studies include the following: Complete blood count: May reveal anemia Serum chemistry levels: Usually normal in persons with primary osteoporosis Liver function tests Thyroid-stimulating hormone level: Thyroid dysfunction has been associated with osteoporosis

2014 eMedicine.com

424. Osler-Weber-Rendu Syndrome (Overview)

be either hemorrhagic or ischemic. Of patients who have pulmonary AVMs, 2% per year are estimated to have a stroke, and 1% per year are estimated to develop a brain abscess. Retinal arteriovenous aneurysms occur only rarely. Patients are also at risk for high-output cardiac failure, migraines and further sequelae. Frequent nosebleeds and melena may result from telangiectasia in the nose and GI tract. Patients with the severe form of HHT have heavy bleeding and resultant iron-deficiency anemia. Recurrent (...) . Pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia: a series of 126 patients. Medicine (Baltimore) . 2007 Jan. 86(1):1-17. . Pierucci P, Murphy J, Henderson KJ, et al. New definition and natural history of patients with diffuse pulmonary arteriovenous malformations: twenty-seven-year experience. Chest . 2008 Mar. 133(3):653-61. . Trembath RC, Thomson JR, Machado RD, et al. Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary

2014 eMedicine.com

425. Oral Manifestations of Systemic Diseases (Overview)

, and—in the case of heparin-induced thrombocytopenia—skin necrosis. [ ] In the oral cavity, petechiae and ecchymoses may be visible on the soft palate and buccal mucosa. [ ] Gingival bleeding is common and often spontaneous. [ ] Hemorrhagic bullae that appear as deep‒red-to-violaceous or black blisters may appear on mucosal surfaces in cases of severe thrombocytopenia. [ ] Red blood cell disorders Anemias Common anemias associated with oral manifestations include iron-deficiency anemia and macrocytic anemia (...) : Hematologic Disorders Hematologic malignancies and blood cell dyscrasias are a remarkably diverse collection of diseases with numerous systemic sequelae. The etiology, diagnostic criteria, prognosis, and treatment of each condition is unique and complex. As such, a complete analysis is not within the scope of this review. The oral manifestations of numerous hematologic disorders are summarized. Please refer to the references for more detailed information. [ ] White blood cell disorders Leukemia Leukemia

2014 eMedicine.com

426. Hematologic Disease and Pregnancy (Overview)

, hypertensive disorders, intrauterine growth restriction (IUGR), and cesarean delivery among women with sickle cell disease. [ ] The following odds ratios were significantly increased for women with sickle cell disease: pneumonia (9.8), sepsis (6.8), cerebral venous thrombosis (4.9), eclampsia (3.2), IUGR (2.9), DVT (2.5), stroke (2.0), pulmonary embolism (1.7), postpartum infection (1.4), and pyelonephritis (1.3). The mortality rate for women with sickle cell disease was 6 times that for women without (...) by hemoglobin electrophoresis. Anemia occurs as a result of the sickle hemoglobinopathies. Deoxygenation of the abnormal red blood cells (RBCs) results in sickling. These permanently damaged RBCs are then removed by the reticuloendothelial system, with the average RBC lifespan reduced to 17 days. The result is a chronic compensated anemia, with Hb typically measured between 6.5 and 9.5 g/dL. The sickle shape also results in altered motion through the microvasculature. This altered motion can predispose

2014 eMedicine.com

427. Haemophilus Influenzae Infections (Overview)

Immunologic studies: Detection of the polyribosyl ribitol phosphate (PRP) polysaccharide capsule via countercurrent immunoelectrophoresis, latex particle agglutination, co-agglutination, and enzyme-linked immunosorbent assay; important adjuncts to culturing for rapid diagnosis Cerebrospinal fluid (CSF) studies (eg, Gram stain, culture, glucose/protein levels) Blood cell counts: Assessment for anemia, leukocytosis, thrombocytosis, and/or thrombocytopenia Acute phase reactants: Characteristic elevated (...) , sepsis, meningitis, pneumonia, respiratory distress, scalp abscess, conjunctivitis, and vesicular eruption NTHi infections: Commonly causes various mucosal infections, including otitis media and conjunctivitis Persons at risk for invasive H influenzae disease include the following: Children younger than 4 years Contacts (eg, household and daycare) of someone with Hib disease Persons with sickle cell disease, Persons with asplenia Individuals with HIV infection Individuals with immunoglobulin

2014 eMedicine.com

428. Haemophilus Meningitis (Overview)

. Infants and young children who develop Hib meningitis take as long as 3 months to mount a type-specific response to the causative Hib strain. To varying degrees, the development of these protective immune responses is delayed and less robust in children who have immune system compromise, such as those with agammaglobulinemia, immunoglobulin G (IgG2) subclass deficiency, or various degrees of asplenia due to sickle cell anemia or other causes, as well as those with cancer, HIV infection, chronic (...) for Hib vaccination programs instituted in Chile and the Dominican Republic, where, before immunization, the annual incidence of Hib meningitis in children younger than 5 years had been higher than 20 cases per 100,000. Significant declines in incidence of Hib meningitis are reported for hospitals in Argentina and South Africa, as well as declines in percentage of positive CSF indicators of bacterial meningitis, such as elevated white blood cell count, low glucose, elevated protein, or turbidity

2014 eMedicine.com

429. Genetic and Inflammatory Mechanisms in Stroke (Overview)

. Selected single-gene disorders are discussed. Sickle cell anemia Cerebrovascular complications in sickle cell anemia (SCA) are the result of polymerized red blood cells at low oxygen tensions, resulting in small vessel occlusion and sickle-related arterial disease. SCA is seen in approximately 6% of children with stroke, [ ] but one quarter of individuals with SCA experience a stroke by age 45 years and the highest incidence for ischemic stroke is at 2-5 years. [ ] By the onset of early adulthood (...) pupils, hypotonic bladder, gut malrotation and hypoperistalsis, and pulmonary hypertension. [ ] There is a risk for aortic, cervical, and intracranial arterial dissection. [ ] They are also at risk for steno-occlusive small-vessel disease, moyamoya disease, and aneurysmal large-vessel disease. [ ] NF1 Neurofibromatosis type 1 (NF1) is a disorder resulting from a dysfunctional tumor suppressor gene in the Ras signaling pathway. The cerebrovascular expression of disease is excessive smooth cell

2014 eMedicine.com

430. Early Pregnancy Loss (Overview)

, factor XIII deficiency, congenital hypofibrinogenemia and afibrinogenemia, and sickle cell anemia. Women with sickle cell anemia are at increased risk for fetal loss, possibly because of placental-bed microinfarcts. Management For couples who have had an SAB due to a suspected genetic cause, the standard of care is to offer genetic counseling. Because advanced age increases the risk of an abnormal karyotype in a conceptus, amniocentesis is routinely offered for all pregnant women of advanced maternal (...) are predictive of adverse obstetric outcome in patients with SLE. Disease before conception Onset of SLE during pregnancy Underlying renal disease Other obstetric and medical conditions associated with APLAs are listed below. Obstetric conditions associated with APLAs [ ] Abnormal fetal heart rate tracings Preterm deliveries Pregnancy wastage Medical conditions associated with APLAs Arterial and venous thrombosis Autoimmune thrombocytopenia Autoimmune hemolytic anemia Livedo reticularis Chorea Pulmonary

2014 eMedicine.com

431. Urinary Tract Infection, Males (Overview)

UTI is dependent on the suspected diagnosis. Routine laboratory studies include urine studies, such as urinalysis, Gram staining, and urine culture. The threshold for establishing true UTI includes finding 2-5 or more white blood cells (WBCs) or 15 bacteria per high-power field (HPF) in a centrifuged urine sediment. Note that a positive nitrite test is poorly sensitive but highly specific for UTI; false-positives are uncommon. Proteinuria is commonly observed in UTIs, but it is usually low grade (...) , sickle cell anemia, underlying carcinoma, or intercurrent cancer chemotherapy). Surgery Surgical intervention may be required in the patients with the following conditions: Prostatitis involving bladder neck obstruction, prostatic or bladder calculi, or recurrent prostatitis with the same bacteria [ ] Emphysematous pyelonephritis (ie, emergent nephrectomy) Epididymitis involving spermatic cord torsion See and for more detail. Next: Background The incidence of true urinary tract infection (UTI

2014 eMedicine.com

432. Transfusion-Induced Iron Overload (Overview)

-dependent thalassemia in the National Institutes of Health (NIH) registry, 23% had iron overload as documented by a liver iron concentration of 15 mg/g dry weight or greater. [ ] Around 15,000 patients with sickle cell disorder and estimated and 5,000 with myelodysplastic syndromes and other acquired refractory anemias require blood transfusions. [ ] International In a Japanese cohort of transfusion-dependent patients with myelodysplastic syndrome and aplastic anemia, one third of all deaths were (...) cell disease. J Natl Med Assoc . 2003 Oct. 95(10):939-42. . Halonen P, Mattila J, Suominen P, et al. Iron overload in children who are treated for acute lymphoblastic leukemia estimated by liver siderosis and serum iron parameters. Pediatrics . 2003 Jan. 111(1):91-6. . . Files B, Brambilla D, Kutlar A, et al. Longitudinal changes in ferritin during chronic transfusion: a report from the Stroke Prevention Trial in Sickle Cell Anemia (STOP). J Pediatr Hematol Oncol . 2002 May. 24(4):284-90. . Borgna

2014 eMedicine.com

433. Transfusion Reactions (Overview)

transfusions, because such patients may be at risk of delays in the future if they require urgent transfusion of compatible RBCs. [ ] Alloimmunization to RBC blood group antigens may also delay solid-organ transplantation if a significant number of serologically compatible RBCs are required. [ ] Race In the United States, is found predominantly in the black population. Patients with sickle cell anemia require repeated red cell transfusions and, as a result, may form multiple alloantibodies to common Rh (...) , Kell, Kidd, or other blood group antigens. The presence of such alloantibodies may increase the time required for a transfusion service to supply serologically compatible red cells. If undetected, these red cell alloantibodies may cause shortened survival of transfused red cells and extravascular hemolysis, but severe acute hemolytic reactions are uncommon. [ , ] In addition, patients with sickle cell anemia may experience delayed hemolytic transfusion reactions. The first clinical signs

2014 eMedicine.com

434. Osteoporosis (Primary) (Follow-up)

), continuation of treatment for up to 10 years (oral) or 6 years (intravenous), with periodic evaluation, should be considered. The risk of atypical femoral fracture, but not osteonecrosis of the jaw, clearly increases with the duration of bisphosphonate therapy, but such rare events are outweighed by vertebral fracture risk reduction in high-risk patients. For women not at high fracture risk, a drug holiday of 2 to 3 years can be considered after 3 to 5 years of BP treatment. Selective estrogen receptor (...) of Systematic Reviews study found that exercise may help prevent bone loss and fractures in postmenopausal women. The most effective type of exercise on BMD for the neck of the femur was found to be non–weight-bearing, high-force exercise, such as lower limb resistance strength training; combination exercise programs were most effective for BMD at the spine. [ ] Although swimming is not a weight-bearing exercise that will improve BMD, it does provide chest expansion, spinal extension, and low-impact

2014 eMedicine.com

435. Osteoporosis (Secondary) (Follow-up)

), continuation of treatment for up to 10 years (oral) or 6 years (intravenous), with periodic evaluation, should be considered. The risk of atypical femoral fracture, but not osteonecrosis of the jaw, clearly increases with the duration of bisphosphonate therapy, but such rare events are outweighed by vertebral fracture risk reduction in high-risk patients. For women not at high fracture risk, a drug holiday of 2 to 3 years can be considered after 3 to 5 years of BP treatment. Selective estrogen receptor (...) of Systematic Reviews study found that exercise may help prevent bone loss and fractures in postmenopausal women. The most effective type of exercise on BMD for the neck of the femur was found to be non–weight-bearing, high-force exercise, such as lower limb resistance strength training; combination exercise programs were most effective for BMD at the spine. [ ] Although swimming is not a weight-bearing exercise that will improve BMD, it does provide chest expansion, spinal extension, and low-impact

2014 eMedicine.com

436. Osteoporosis (Follow-up)

), continuation of treatment for up to 10 years (oral) or 6 years (intravenous), with periodic evaluation, should be considered. The risk of atypical femoral fracture, but not osteonecrosis of the jaw, clearly increases with the duration of bisphosphonate therapy, but such rare events are outweighed by vertebral fracture risk reduction in high-risk patients. For women not at high fracture risk, a drug holiday of 2 to 3 years can be considered after 3 to 5 years of BP treatment. Selective estrogen receptor (...) of Systematic Reviews study found that exercise may help prevent bone loss and fractures in postmenopausal women. The most effective type of exercise on BMD for the neck of the femur was found to be non–weight-bearing, high-force exercise, such as lower limb resistance strength training; combination exercise programs were most effective for BMD at the spine. [ ] Although swimming is not a weight-bearing exercise that will improve BMD, it does provide chest expansion, spinal extension, and low-impact

2014 eMedicine.com

437. Oral Manifestations of Systemic Diseases (Follow-up)

, and—in the case of heparin-induced thrombocytopenia—skin necrosis. [ ] In the oral cavity, petechiae and ecchymoses may be visible on the soft palate and buccal mucosa. [ ] Gingival bleeding is common and often spontaneous. [ ] Hemorrhagic bullae that appear as deep‒red-to-violaceous or black blisters may appear on mucosal surfaces in cases of severe thrombocytopenia. [ ] Red blood cell disorders Anemias Common anemias associated with oral manifestations include iron-deficiency anemia and macrocytic anemia (...) : Hematologic Disorders Hematologic malignancies and blood cell dyscrasias are a remarkably diverse collection of diseases with numerous systemic sequelae. The etiology, diagnostic criteria, prognosis, and treatment of each condition is unique and complex. As such, a complete analysis is not within the scope of this review. The oral manifestations of numerous hematologic disorders are summarized. Please refer to the references for more detailed information. [ ] White blood cell disorders Leukemia Leukemia

2014 eMedicine.com

438. Osler-Weber-Rendu Syndrome (Follow-up)

. Patients should be monitored for symptoms and signs of blood loss and anemia with yearly stool guaiac testing and complete blood count (CBC) with differential. Patients should be screened for pulmonary, hepatic, and CNS AVMs at the time of diagnosis and at the onset of any suggestive symptoms and signs. Children who have a parent with HHT carry a 50% chance of harboring the same genetic mutation. Accordingly, pulmonary AVM screening and long-term follow-up are advocated for these children, beginning (...) , Henderson KJ, et al. New definition and natural history of patients with diffuse pulmonary arteriovenous malformations: twenty-seven-year experience. Chest . 2008 Mar. 133(3):653-61. . Trembath RC, Thomson JR, Machado RD, et al. Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia. N Engl J Med . 2001 Aug 2. 345(5):325-34. . Press OW, Ramsey PG. Central nervous system infections associated with hereditary hemorrhagic telangiectasia. Am

2014 eMedicine.com

439. Haemophilus Influenzae Infections (Follow-up)

. Therefore, reevaluate these children (including with lumbar punctures and chest radiography) for an infectious focus and obtain repeat blood cultures. Administer parenteral antibiotics for at least 2-5 days and guide subsequent therapy based on the focus of infection. If no focus is identified, substitute oral antibiotics to complete 7-14 days of therapy, as in other gram-negative bloodstream infections/bacteremias. Studies have been conducted to determine the optimal treatment duration for gram (...) recommendations for adults aged 19 years and older. Recommendations related to the Hib vaccine remained the same as in 2014. Hib vaccination is recommended in the following populations: Certain adults at increased risk for Hib infection (patients with anatomical or functional asplenia or sickle cell diseases or who are undergoing elective splenectomy should receive one dose of Hib vaccine) who have not previously received the vaccine, except individuals with human immunodeficiency (HIV) infection

2014 eMedicine.com

440. Hematologic Disease and Pregnancy (Follow-up)

, hypertensive disorders, intrauterine growth restriction (IUGR), and cesarean delivery among women with sickle cell disease. [ ] The following odds ratios were significantly increased for women with sickle cell disease: pneumonia (9.8), sepsis (6.8), cerebral venous thrombosis (4.9), eclampsia (3.2), IUGR (2.9), DVT (2.5), stroke (2.0), pulmonary embolism (1.7), postpartum infection (1.4), and pyelonephritis (1.3). The mortality rate for women with sickle cell disease was 6 times that for women without (...) by hemoglobin electrophoresis. Anemia occurs as a result of the sickle hemoglobinopathies. Deoxygenation of the abnormal red blood cells (RBCs) results in sickling. These permanently damaged RBCs are then removed by the reticuloendothelial system, with the average RBC lifespan reduced to 17 days. The result is a chronic compensated anemia, with Hb typically measured between 6.5 and 9.5 g/dL. The sickle shape also results in altered motion through the microvasculature. This altered motion can predispose

2014 eMedicine.com

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