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Pulmonary Hypertension in Sickle Cell Anemia

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281. Osler-Weber-Rendu Syndrome (Overview)

Smad4) - These are described in JPHT, [ , ] which is also autosomal dominant, involves chromosome 18, and combines clinical manifestations of HHT and The first two (HHT types 1 and 2) account for approximately 85% of cases. In addition, some families show no links to any of the known loci. One patient with HHT and pulmonary hypertension with no mutation in ENG , ACVRL1 , or SMAD4 but was found to have a nonsense mutation in BMPR2 . [ ] Previous Next: Epidemiology United States statistics OWRD (ie (...) 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

2014 eMedicine.com

282. Erectile Dysfunction (Overview)

Dyslipidemia Hypertension Neurologic causes Epilepsy Stroke Multiple sclerosis Guillain-Barré syndrome Alzheimer disease Trauma Respiratory disease Chronic obstructive pulmonary disease Sleep apnea Endocrine conditions Hyperthyroidism Hypothyroidism Hypogonadism Diabetes Penile conditions Peyronie disease Epispadias Priapism Psychiatric conditions Depression Widower syndrome Performance anxiety Posttraumatic stress disorder Nutritional states Malnutrition Zinc deficiency Hematologic diseases Sickle cell (...) ) There is a strong correlation between hypertension and ED. There is also a correlation between benign prostatic hyperplasia and ED, though the causality is unclear. See for more detail. Diagnosis Laboratory testing for ED depends on information gathered during the interview; it is necessary for most patients, although not for all. Such testing may include the following: Evaluation of hormonal status (testosterone, serum hormone–binding globulin, luteinizing hormone [LH], prolactin, thyroid-stimulating hormone

2014 eMedicine.com

283. Altitude-Related Disorders (Follow-up)

Populations at High Altitude Large numbers of individuals go to high altitudes for work and recreation, and some individuals have special medical problems. Despite similarities to altitude illness in healthy individuals, ascent to high altitude by persons with underlying cardiac disease, [ ] pulmonary disease, and sickle cell anemia deserves special mention. Coronary Artery Disease Unacclimatized persons with coronary artery disease may develop increased anginal symptoms following ascent to altitude (...) in the United States carry at least 1 abnormal hemoglobin gene. Most of these individuals have sickle cell trait and are largely asymptomatic, while a few have a far more severe condition, sickle cell anemia. Those with sickle cell anemia probably already know about their disease, but those with only sickle cell trait may be unaware of the problem and, therefore, are more likely to go to high altitude and experience problems. Exposure to the hypoxia at high altitude may precipitate a sickle cell crisis

2014 eMedicine.com

284. 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

285. Transfusion and Autotransfusion (Overview)

of whole blood transfusion is the US military buddy transfusion system, best known as the US Navy’s walking blood bank onboard naval warships, such as the USS Cole. Next: Indications Anemia and hemorrhagic shock defined Active hemorrhage resulting in shock is one of the few evidence-based established indications for transfusion. Anemia describes a diminished circulating red cell mass, expressed as grams of hemoglobin per 100 cc of whole blood. Anemia may arise as a result of external loss, internal (...) destruction, inadequate production, or a combination of these entities. While most patients experiencing active hemorrhage become anemic, anemia in itself is not necessarily an indication for transfusion. The result of severe bleeding is hemorrhagic shock, and shock is defined as the inadequate supply of oxygen to support cellular metabolism. Red cell mass repletion is only one facet of therapy for hemorrhagic shock and may not be used in every case. Goal of PRBC transfusion Based on the classic

2014 eMedicine Surgery

286. Osler-Weber-Rendu Disease (Diagnosis)

Smad4) - These are described in JPHT, [ , ] which is also autosomal dominant, involves chromosome 18, and combines clinical manifestations of HHT and The first two (HHT types 1 and 2) account for approximately 85% of cases. In addition, some families show no links to any of the known loci. One patient with HHT and pulmonary hypertension with no mutation in ENG , ACVRL1 , or SMAD4 but was found to have a nonsense mutation in BMPR2 . [ ] Previous Next: Epidemiology United States statistics OWRD (ie (...) 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

2014 eMedicine Surgery

287. Transfusion and Autotransfusion (Diagnosis)

use of whole blood transfusion is the US military buddy transfusion system, best known as the US Navy’s walking blood bank onboard naval warships, such as the USS Cole. Next: Indications Anemia and hemorrhagic shock defined Active hemorrhage resulting in shock is one of the few evidence-based established indications for transfusion. Anemia describes a diminished circulating red cell mass, expressed as grams of hemoglobin per 100 cc of whole blood. Anemia may arise as a result of external loss (...) , internal destruction, inadequate production, or a combination of these entities. While most patients experiencing active hemorrhage become anemic, anemia in itself is not necessarily an indication for transfusion. The result of severe bleeding is hemorrhagic shock, and shock is defined as the inadequate supply of oxygen to support cellular metabolism. Red cell mass repletion is only one facet of therapy for hemorrhagic shock and may not be used in every case. Goal of PRBC transfusion Based

2014 eMedicine Surgery

288. Altitude-Related Disorders (Diagnosis)

Populations at High Altitude Large numbers of individuals go to high altitudes for work and recreation, and some individuals have special medical problems. Despite similarities to altitude illness in healthy individuals, ascent to high altitude by persons with underlying cardiac disease, [ ] pulmonary disease, and sickle cell anemia deserves special mention. Coronary Artery Disease Unacclimatized persons with coronary artery disease may develop increased anginal symptoms following ascent to altitude (...) in the United States carry at least 1 abnormal hemoglobin gene. Most of these individuals have sickle cell trait and are largely asymptomatic, while a few have a far more severe condition, sickle cell anemia. Those with sickle cell anemia probably already know about their disease, but those with only sickle cell trait may be unaware of the problem and, therefore, are more likely to go to high altitude and experience problems. Exposure to the hypoxia at high altitude may precipitate a sickle cell crisis

2014 eMedicine.com

289. Genetic and Inflammatory Mechanisms in Stroke (Diagnosis)

. 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

290. Early Pregnancy Loss (Diagnosis)

, 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

291. Erectile Dysfunction (Diagnosis)

Dyslipidemia Hypertension Neurologic causes Epilepsy Stroke Multiple sclerosis Guillain-Barré syndrome Alzheimer disease Trauma Respiratory disease Chronic obstructive pulmonary disease Sleep apnea Endocrine conditions Hyperthyroidism Hypothyroidism Hypogonadism Diabetes Penile conditions Peyronie disease Epispadias Priapism Psychiatric conditions Depression Widower syndrome Performance anxiety Posttraumatic stress disorder Nutritional states Malnutrition Zinc deficiency Hematologic diseases Sickle cell (...) ) There is a strong correlation between hypertension and ED. There is also a correlation between benign prostatic hyperplasia and ED, though the causality is unclear. See for more detail. Diagnosis Laboratory testing for ED depends on information gathered during the interview; it is necessary for most patients, although not for all. Such testing may include the following: Evaluation of hormonal status (testosterone, serum hormone–binding globulin, luteinizing hormone [LH], prolactin, thyroid-stimulating hormone

2014 eMedicine.com

292. Chronic Renal Failure (Diagnosis)

< 30 mL/min/1.73 m²) that endocrine/metabolic derangements or disturbances in water or electrolyte balance become clinically manifest. Signs of metabolic acidosis in stage 5 CKD include the following: Loss of lean body mass Muscle weakness Signs of alterations in the way the kidneys are handling salt and water in stage 5 include the following: Peripheral edema Pulmonary edema Hypertension Anemia in CKD is associated with the following: Fatigue Reduced exercise capacity Impaired cognitive and immune (...) becomes clinically manifested when the GFR falls to less than 10-15 mL/min/1.73 m², when compensatory mechanisms have become exhausted. As kidney function declines further, sodium retention and extracellular volume expansion lead to peripheral edema and, not uncommonly, pulmonary edema and hypertension. At a higher GFR, excess sodium and water intake could result in a similar picture if the ingested amounts of sodium and water exceed the available potential for compensatory excretion

2014 eMedicine.com

294. Oral Manifestations of Systemic Diseases (Treatment)

) and the progenitor cell lineage primarily effected (lymphoid or myeloid). [ , ] Systemically, dysregulated leukocyte proliferation results in a suppression of normal hematopoiesis, often leading to anemia and thrombocytopenia. Of course, as leukocytes are a critical component of the immune system, patients with leukemias are also at increased risk of infection. Cutaneous manifestations include leukemic skin infiltrations (leukemia cutis), as well as nonspecific lesions (eg, cutaneous infections, vasculitis (...) , 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

2014 eMedicine.com

295. Hematologic Disease and Pregnancy (Treatment)

, 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 (...) Gynaecol Br Commonw . 1972 May. 79(5):396-409. . Powars DR, Sandhu M, Niland-Weiss J, et al. Pregnancy in sickle cell disease. Obstet Gynecol . 1986 Feb. 67(2):217-28. . Smith JA, Espeland M, Bellevue R, et al. Pregnancy in sickle cell disease: experience of the Cooperative Study of Sickle Cell Disease. Obstet Gynecol . 1996 Feb. 87(2):199-204. . Chakravarty EF, Khanna D, Chung L. Pregnancy outcomes in systemic sclerosis, primary pulmonary hypertension, and sickle cell disease. Obstet Gynecol . 2008

2014 eMedicine.com

296. Transfusion-Induced Iron Overload (Treatment)

, Antonijevic N, Jankovic G, Babic D, Colovic M. [Aplastic anemia--clinical characteristics and survival analysis] [Serbian]. Srp Arh Celok Lek . 1998 Jul-Aug. 126(7-8):234-8. . Aul C, Gattermann N, Germing U, Runde V, Heyll A. [Myelodysplastic syndromes. The epidemiological and etiological aspects] [German]. Dtsch Med Wochenschr . 1992 Aug 14. 117(33):1223-31. . Hassan M, Hasan S, Giday S, et al. Hepatitis C virus in sickle 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-Pignatti C, Castriota-Scanderbeg A. Methods for evaluating iron stores and efficacy

2014 eMedicine.com

297. 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

298. Chronic Renal Failure (Overview)

< 30 mL/min/1.73 m²) that endocrine/metabolic derangements or disturbances in water or electrolyte balance become clinically manifest. Signs of metabolic acidosis in stage 5 CKD include the following: Loss of lean body mass Muscle weakness Signs of alterations in the way the kidneys are handling salt and water in stage 5 include the following: Peripheral edema Pulmonary edema Hypertension Anemia in CKD is associated with the following: Fatigue Reduced exercise capacity Impaired cognitive and immune (...) becomes clinically manifested when the GFR falls to less than 10-15 mL/min/1.73 m², when compensatory mechanisms have become exhausted. As kidney function declines further, sodium retention and extracellular volume expansion lead to peripheral edema and, not uncommonly, pulmonary edema and hypertension. At a higher GFR, excess sodium and water intake could result in a similar picture if the ingested amounts of sodium and water exceed the available potential for compensatory excretion

2014 eMedicine.com

300. Altitude-Related Disorders (Overview)

Populations at High Altitude Large numbers of individuals go to high altitudes for work and recreation, and some individuals have special medical problems. Despite similarities to altitude illness in healthy individuals, ascent to high altitude by persons with underlying cardiac disease, [ ] pulmonary disease, and sickle cell anemia deserves special mention. Coronary Artery Disease Unacclimatized persons with coronary artery disease may develop increased anginal symptoms following ascent to altitude (...) in the United States carry at least 1 abnormal hemoglobin gene. Most of these individuals have sickle cell trait and are largely asymptomatic, while a few have a far more severe condition, sickle cell anemia. Those with sickle cell anemia probably already know about their disease, but those with only sickle cell trait may be unaware of the problem and, therefore, are more likely to go to high altitude and experience problems. Exposure to the hypoxia at high altitude may precipitate a sickle cell crisis

2014 eMedicine.com

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