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رعاف / سعال / زلة تنفسية / أعراض جلدية
الطبيبة العجيبة - الثلاثاء, 2009-06-16 20:56 | الطب الداخلي › الرثوية › أمراض النسج الرخوة Connective Tissue Diseases › التهابات الشرايين الجهازية Systemic Vasculitis › الشرينات والشعريات | المحتوى الطبي
الوصف الكامل Background
A 50-year-old white woman presents with a chief complaint of cough and dyspnea despite oral antibiotic therapy for a presumed exacerbation of chronic obstructive pulmonary disease (COPD). She reports moderate sputum production and occasional mild hemoptysis. She denies any recent contact with ill persons or recent travel. She additionally reports frequent and often heavy epistaxis. She denies having fevers, night sweats, or unintentional weight loss. She has not experienced any recent diarrhea, melena or hematochezia.
In addition to a past medical history of seizures, seasonal allergies, hypertension, impaired gastric motility, anxiety, depression, and gastroesophageal reflux disease, she has a longstanding history of chronic obstructive pulmonary disease (COPD), which is normally well-controlled with inhaled fluticasone/salmeterol and albuterol. The patient's other home medications include ethosuximide, loratadine, verapamil, metoclopramide, promethazine, alprazolam, temazepam, duloxetine, esomeprazole, aminocaproic acid, ferrous sulfate, and a multivitamin. Her past surgical history includes a cholecystectomy, knee arthroscopy, and a partial hysterectomy for cervical carcinoma. The patient's family history does not contribute to this admission, but it is significant in the pathologic process (see Figures 1-3). The patient is a current smoker but denies the use of any illicit drugs.
The physical examination reveals a 50-year-old white woman in no acute distress. Her oral temperature is 99.4°F (37.4°C). Her pulse is 80 bpm and her blood pressure is 111/63 mm Hg. A pulse oximetry examination reveals a room air saturation of 97%. Examination of the lungs shows bilateral rhonchi and mild wheezing. Examination of the cardiovascular system is unremarkable, as is the abdominal examination. Examination of the skin is remarkable for the pathologic process revealed in the images seen in Figures 1-3. She is also noted to have multiple superficial nonbleeding vessels on the nasal septum.
A portable chest radiograph is obtained, which does not reveal any effusions or infiltrates. A complete blood cell (CBC) count shows an increased white blood cell (WBC) count of 15.6 x 103/µL (15.6 x 109/L; normal range: 4.4-11.3 x 103/µL), as well as a microcytic, hypochromic anemia (with a hemoglobin of 9.2 g/dL [92 g/L], a mean corpuscular volume of 76 μ/m3 [76 fL], and a mean corpuscular hemoglobin of 21.6 pg/cell).
المرجع
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What is the condition responsible for the abnormal skin findings?
Hint: Often diagnosed in the teenage years, this condition presents with epistaxis or
gastrointestinal bleeding. Patients are likely to have multiple family members with the same condition.
A..Dermatomyositis
B..von Willebrand disease
C..Osler-Weber-Rendu syndrome
D..Louis-Bar syndrome
--
epistaxis + family history are strong clues.... and if we add seizure (which make me think in AVM) now we have a good orientation to the yndrome.....
pulmonary symptoms (cough, dyspnea, and hemoptysis) are due to pulmonary AVM....
صح دكتور فؤاد
الجواب هو c
طيب سؤال
Which of the following is the most common presenting symptom seen in patients with Osler-Weber-Rendu syndrome?
Gastrointestinal bleeding A
Hemoptysis B
Epistaxis C
Hemorrhagic stroke D
--
Which of the following statements is best associated with the management of patients with Osler-Weber-Rendu syndrome?
Should always involve a vascular consult for possible embolization A
Should include a routine gastroenterology consult to rule out bleeding from a gastrointestinal AVM B
Is mostly supportive C
Regular platelet transfusions are typically required D
--
مين بيعرف ليش ما نزلت الحالة السريرية ضمن المحتويات العلمية الحديثة
ياريت تنزلوها
Epistaxis C
Is mostly supportive C
جوابك صح دكتور/ه
Osler-Weber-Rendu syndrome (also known as hereditary hemorrhagic telangiectasia) is inherited in an autosomal dominant manner. The disease is characterized by
mucocutaneous and visceral telangiectases
and arteriovenous malformations (AVM).
Although epistaxis is the most common symptom, serious complications can arise as a result of
large telangiectases
and AVMs affecting the central nervous system (CNS), lungs, liver, spleen, and gastrointestinal (GI) mucosa.
ملاحظة صغيرة
كلمة ECTASIA في آخر الكلمة تعني توسع
وبالتالي TELANGICTASIA توسع الشعيرات
و HEREDITARY HEMORRHAGIC TELANGIECTASIA توسع الشعيرات الدموية الوراثي النزفي
Osler-Weber-Rendu syndrome is a rare condition that is estimated to affect 1-2 persons per 100,000 population in the United States.[3]
It affects men and women equally.
Although Osler-Weber-Rendu syndrome can manifest in childhood, it more commonly appears in adolescents and young adults
The prognosis for most patients is generally good when sources of bleeding can be found and controlled.
Recurrent epistaxis and GI mucosal bleeds can result in melena and iron-deficiency anemia.
Nose bleeds tend to become more serious with age, with 10-30% of patients requiring blood transfusion.
Patients with pulmonary AVMs and extensive GI telangiectases are at risk for life-threatening hemorrhage at these sites
In patients who have pulmonary AVMs, the risk for stroke is estimated to be 2% per year,
Cases have been reported of extensive hepatic involvement, with some patients requiring liver transplantation.
Despite the numerous potential complications associated with Osler-Weber-Rendu syndrome, only 10% of these patients die from complications of the disease
The first gene found to be responsible for Osler-Weber-Rendu syndrome was mapped to chromosome 9q33 and identified as ENG (endoglin
Traditionally, the diagnosis was made on the basis of the classic triad of epistaxis, telangiectasia, and family history
stringent criteria to help guide the diagnosis of Osler-Weber-Rendu syndrome. The criteria include]:
Epistaxis: spontaneous, recurrent nose bleeds;
Telangiectases: multiple, and at characteristic sites (lips, oral cavity, fingers, nose);
Visceral lesions: eg, gastrointestinal telangiectasia (with or without bleeding), pulmonary AVM, hepatic AVM, cerebral AVM, spinal AVM; and
Family history: a first-degree relative with Osler-Weber-Rendu syndrome according to these criteria.
A diagnosis of Osler-Weber-Rendu syndrome is considered definite if 3 criteria are present, possible or suspected if 2 criteria are present, and unlikely if fewer than 2 criteria are met.
[b]يعني إذا توافرت 3 شروط من الشروط الأربعة السابقة فالتشخيص أكيد
إذا توافر شرطان فقط فهناك احتمال لكنه غير مؤكد للإصابة بمتلازمة أوسلر ويبر رندو
أما إذا توفر أقل من شرطين فالاحتمال قليل جدا
A clinical diagnosis in children may be difficult because epistaxis may present years before cutaneous telangiectasia.[/b]
-of course doctor -
the source is from medscape as usual
http://cme.medscape.com/viewarticle/703884?src=cmemp
ذكرنا سابقاً مايلي
طيب ليش
--
Telangiectases often appear after puberty and in characteristic locations.
The lips and oral mucosa are nearly always involved.
There may be scattered telangiectases about the face, nose, ears, trunk, and arms.
The fingers and hands are also frequently involved. Although not pathognomonic, dilated capillaries in the nail bed and nail folds are characteristic of Osler-Weber-Rendu syndrome.
Telangiectases can be seen throughout the GI mucosa with endoscopy
hypoxemia,
cyanosis,
clubbing of the digits.
When AVMs develop in the CNS or spinal canal, patients can be affected by
stroke,
seizure,
focal neurologic signs.
Extensive hepatic involvement is seen in 8-31% of patients with Osler-Weber-Rendu syndrome. Fistulae in the liver can cause
portal hypertension,
cirrhosis,
hepatomegaly with high-output heart failure---
دكتورتنا العجيبة بعرف انك محمسة كتير وخالصة فحوصتك بس نحنا فحصنا بعد 15 يوم والسنوات الباقية أسبوعين وبخلصوا فما فيك تأجلي نشاطاتك شوي مشكورة
خلص ولا يهمك
رح حاول نزل موضوعات قصيرة كلمة ورد غطاها
أنا إلي شهر مخلصة نيالكن إنتو لهلأ ما خلصتو
بالتوفيق درسو منيح ولا تتلهو على حكيم
بدنا علامات بترفع الراس
سلامي
Nasal packing and cautery may be required for routine epistaxis.
Autologous skin grafting of the nasal septum, called septal dermoplasty, can be used in severe cases of recurrent epistaxis.
Blood transfusions and iron replacement may be needed in some patients.
Aminocaproic acid is an antifibrinolytic used to prevent and treat mucosal bleeding.
Oral contraceptives
Electrocautery and neodymium:yttrium-aluminum-garnet (Nd:YAG) laser ablation has been used to treat cutaneous skin lesions as well as mucosal telangiectases.
Transluminal embolization of pulmonary fistulae is an effective therapy for patients with bilateral lung involvement.
Neurovascular surgery is indicated in select CNS AVMs.
As with any genetic disease, family counseling and education about inheritance should be included in the management of the condition.--
وأخيييييييييييييييييييييراً خلصت من هي الحالة
