Symptoma

Familial Abdominal Aortic Aneurysm

OBJECTIVE: A familial predisposition to abdominal aortic aneurysms (AAAs) is present in approximately one-fifth of patients. Nevertheless, the clinical implications of a positive family history are not known. [ncbi.nlm.nih.gov]

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

The TGFBR1 (p.Ile72Leu) variant was present in one sporadic and one familial case, and did not segregate. [link.springer.com]

The work presented in this thesis supports the evidence of a genetic origin in AAA formation and warrants up to date knowledge for all clinicians involved in AAA care. [repub.eur.nl]

  • Splenomegaly

    Mesa, American Society of Hematology, How I treat symptomatic splenomegaly in patients with myelofibrosis, . Dostęp: 11.06.2019. 3. Burroughs A, Lukens R, Dirckx J, eds. Stedman’s Medical Dictionary for the Health Professions and Nursing. 7th ed. [mielofibroza.pl]

  • Hunting

    Blankensteijn JD, Teijink JA, Wijmenga C, de Graaf J, Kiemeney LA, Assimes TL, McPherson R, Consortium CA, Global BC, Consortium D, Consortium V, Folkersen L, Franco-Cereceda A, Palmen J, Smith AJ, Sylvius N, Wild JB, Refstrup M, Edkins S, Gwilliam R, Hunt [link.springer.com]

    ZJ, Hertzer NR, Bakal CW, Creager MA, Halperin JL, Hiratzka LF, Murphy WR, Olin JW, Puschett JB, Rosenfield KA, Sacks D, Stanley JC, Taylor LM, White CJ, White J, White RA, Antman EM, Smith SC, Adams CD, Anderson JL, Faxon DP, Fuster V, Gibbons RJ, Hunt [en.wikipedia.org]

    Holley KE, Hunt JC, Brown AL, Kinkaid OW, Sheps SG. Renal artery stenosis. A clinical-pathologic study in normotensive and hypertensive patients. Am J Med. 1964;37:14-22. Medline 55. Hansen KJ, Edwards MS, Craven TE, Cherr GS, Jackson SA, Appel RG. [revespcardiol.org]

  • Abdominal Pain

    Abstract An 82-year-old man was brought to our hospital because of vomiting and abdominal pain. Physical examination revealed a pulsating tumor on the left side of the abdomen. [jstage.jst.go.jp]

    Back To Top Key History Abdominal pain with shock Abdominal pain with syncope Pain in the: Abdomen Back Flank Pain is acute or sudden in onset Pain may be severe and constant Pain may radiate to chest, thigh, inguinal area or scrotum Shock (may be absent [thesullivangroup.com]

    Coronary artery disease by history, arterial hypertension (high blood pressure), elevated cholesterol, family history of aneurysm, family history of coronary insufficiency, strokes, diabetes, legs vascular insufficiency, arteriosclerosis, abdominal pains [medhealthservices.com]

    A plain abdominal film has a limited value in the evaluation of abdominal pain. A normal film does not exclude an ileus or other pathology and may falsely reassure the clinician. [radiologyassistant.nl]

    This patient presented at the emergency room with severe acute abdominal pain and was diagnosed with a Stanford type-B aortic dissection associated with a pre-existing large aorto-iliac aneurysm and marked aorta-iliacal aneurysm with tortuosity with a [link.springer.com]

  • Nausea

    If the aneurysm ruptures, it may cause deep, severe pain; nausea; vomiting; fast heart rate; clammy skin; and/or shock. About 20% of AAAs eventually rupture and are often fatal. [checkorphan.org]

    You may have nausea and vomiting. You may have a rapid heart rate and clammy skin. You may pass out, and you may go into shock. A ruptured aorta is a medical emergency that is often fatal. Tratament A small aortic aneurysm may not need treatment. [capitalcardiology.com]

    If an aneurysm expands quickly or ruptures, symptoms may develop suddenly and include: Pain Clammy skin Dizziness Nausea and vomiting Rapid heart rate Shock Low blood pressure Your doctor can use an angiogram, CT scan or ultrasound test to diagnose an [heart.org]

    Nausea and vomiting. Abnormal stiffness in your abdominal muscles. Problems with urination or bowel movements. Clammy, sweaty skin. If you have these symptoms, call your doctor. Internal bleeding from a ruptured AAA can cause you to go into shock. [familydoctor.org]

  • Translucent Skin

    LDS type 1 is associated with craniofacial defects, while LDS type 2 features include easy bruising, joint laxity, thin translucent skin and propensity for visceral rupture events. [acc.org]

    Common symptoms include thin, translucent skin, bruising easily, characteristic facial appearance (thin lips, small chin, thin nose, large eyes), and fragile arteries, muscles and internal organs. [johnritterresearchprogram.org]

    The Ehlers–Danlos type IV syndrome is associated with vascular fragility, thin and translucent skin, typical facial features, rupture uterus or intestines, and variably hypermobility or contractures. [link.springer.com]

  • Cutis Laxa

    Nat Genet 40:217–224 PubMed CrossRef Google Scholar Hucthagowder V, Sausgruber N, Kim KH, Angle B, Marmorstein LY, Urban Z (2006) Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. [link.springer.com]

  • Hypertelorism

    Additional craniofacial features include CLEFT PALATE; CRANIOSYNOSTOSIS; HYPERTELORISM; or bifid uvula. Phenotypes closely resemble MARFAN SYNDROME; Marfanoid craniosynostosis syndrome (Shprintzen-Goldberg syndrome); and EHLERS-DANLOS SYNDROME. [medvik.cz]

    […] features in these rare autosomal dominantly inherited syndromic forms of familial thoracic aneurysm includes pectus- and/or spinal deformities, joint laxity, and skin translucency and specifically for AOS, osteoarthritis and for the Loeys–Dietz syndrome, hypertelorism [link.springer.com]

Aneurysm was noted during workup for back pain, and CT was ordered after AAA was identified on radiography. No evidence of rupture is seen. Signs and symptoms AAAs are usually asymptomatic until they expand or rupture. [emedicine.medscape.com]

Until recently, the treatment of aortic disease was primarily surgical, carrying a high mortality rate among the high risk elderly population. In Aortic Aneurysms: Pathogenesis and Treatment, Gilbert R. [books.google.com]

PubMedHealth treatment related to Aortic Aneurysm, Familial Abdominal, 1: 64 Whether or not treatment is a good idea, and what type of treatment would be suitable, will mainly depend on the size of the aneurysm, its general development and the overall [malacards.org]

Part III is dedicated to determine the clinical outcome after operative treatment of patients with familial AAA. And Part IV addresses the clinical management of patients with familial AAA. [repub.eur.nl]

Future studies should determine the role of family history in AAA treatment, suitability for endovascular or open repair, and on adaptation of post-operative surveillance. [ncbi.nlm.nih.gov]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Symptoms - Abdominal aortic aneurysm Causes - Abdominal aortic aneurysm Prevention - Abdominal aortic aneurysm Diagnosis - Abdominal aortic aneurysm Prognosis - Abdominal aortic aneurysm Treatment - Abdominal aortic aneurysm Resources - Abdominal aortic [checkorphan.org]

A significant unmet need in the assessment of AAA disease, for the diagnosis, prognosis and follow-up, is the determination of rupture risk, which is currently based on the manual measurement of the aneurysm diameter in a selected Computed Tomography [arxiv.org]

Despite the phenotypic overlap of these syndromes, important differences in prognosis underline the importance of accurate diagnosis to optimize management strategies. [acc.org]

Prognosis In the natural history of AAA, their growth determines their progression toward rupture. [revespcardiol.org]

Aortopathies: etiologies, genetics, differential diagnosis, prognosis and management. Am J Med 2013;126:670-8. Elefteriades JA, Farkas EA. Thoracic aortic aneurysm clinically pertinent controversies and uncertainties. [acc.org]

As detailed earlier, several etiologies of thoracic aortic aneurysms, including a bicuspid aortic valve,10 may be familial. [ahajournals.org]

AAA is caused by a degenerative process of the aortic wall, however the exact etiology remains unknown. [thesullivangroup.com]

The femoropopliteal aneurysm can be accompanied by an AAA in up to 70% of the cases.13,14 Etiology The etiology and pathogenesis of acquired aneurysmal disease are complex and have yet to be fully elucidated. [revespcardiol.org]

Biostatistical Genetics and Genetic Epidemiology. West Sussex, UK: John Wiley & Sons Ltd; 2002:460–472.Google Scholar 8 Weeks DE, Lange K. The affected-pedigree-member method of linkage analysis. [ahajournals.org]

Low prevalence of abdominal aortic aneurysm among 65-year-old Swedish men indicates a change in the epidemiology of the disease. Circulation. 2011 Sep 6. 124(10):1118-23. [Medline]. Majumder PP, St Jean PL, Ferrell RE, Webster MW, Steed DL. [medscape.com]

Epidemiology United States statistics In autopsy studies, the frequency rate of AAA ranges from 0.5% to 3.2%. [emedicine.medscape.com]

Epidemiology of Thoracic Aortic Aneurysms, Aortic Dissection, Intramural Hematoma, and Penetrating Atherosclerotic Ulcers. In: Eagle KA, Baliga RR, Isselbacher EM, Nienaber CA (eds). Aortic Dissection and Related Syndromes. [acc.org]

Back To Top Pathophysiology The signs and symptoms of an AAA reflect the anatomy of the normal aorta. A review of these anatomical factors can sometimes assist in making the diagnosis. [thesullivangroup.com]

AAA usually results from degeneration in the media of the arterial wall, leading to a slow and continuous dilatation of the lumen of the vessel (see Pathophysiology). [emedicine.medscape.com]

[…] ascending aortic dissection will die within the first 24 hours and 50% will die within 48 hours.3,4 The clinical burden coupled with the often silent, insidious and unpredictable nature of aortic disease necessitates better clinical understanding of pathophysiologic [acc.org]

Adventitial inflammatory infiltrate is present.[18] However, the degradation of the tunica media by means of a proteolytic process seems to be the basic pathophysiologic mechanism of AAA development. [en.wikipedia.org]

But it is not yet clear whether medication can slow the growth of the aneurysm and actually lower the risk of rupture.If the risk of rupture is high, surgery is the only preventive measure. [malacards.org]

Preventing brain aneurysms The best way to prevent getting an aneurysm, or reduce the risk of an aneurysm growing bigger and possibly rupturing, is to avoid activities that could damage your blood vessels. [nhs.uk]

Can an AAA be prevented or avoided? You can’t always prevent an AAA from forming. But there are steps you can take to lower your risk. These include: Don’t smoke. If you are a smoker, try to quit. Eat a healthy diet. Be physically active. [familydoctor.org]

Generally you should try to live as healthy a lifestyle as possible to prevent such things as aneurysms, heart attacks and strokes. [canadianvascular.ca]

Canadian Task Force on Preventive Health Care procedure manual. Calgary : Canadian Task Force on Preventive Health Care ; 2014. ( accessed 2017 Mar. 12 ). [cmaj.ca]