By: Maged Taman
Type I hyperlipoproteinemia:
increase in chylomicrons.
Total cholesterol is normal with high triglycerides 2000-25000
A referigerated overnight sample shows one layer of creamy chylomicrons.
Is due to to absence of LPL activity or apo- C-II. Both are autosomal recessive.
May cause eruptive xanthomata, hepatosplenomegaly, lipemia retinalis, acute pancreatitis.
Type IIa: Familial hypercholesterolemia:
increase total cholesterol and LDL with normal triglycerides and HDL.
Total cholesterol is 275-500 in the heterozygous and >500 in the hemozygus.
second to defective LDL receptor. Autosomal dominant.
Present as premature CAD, tendinous xanthomas, xanthelsma, corneal arcus.
Faimial defective Apo B100 is a similar condition with lipid profile similar to the hemozygus above.
Type IIb: Combined Hyperlipidemia:
Increase LDL and VLDL
Total cholesterol is about 250-500 with trglycerides 250-750. with high LDL and low HDL.
gentic defect causing increase apo B 100. Autosmoal dominant.
Premature CAD.
Type III: Familial dysbetalipoproteinemia:
increase VLDL and IDL, VLDL-cholestrol to triglycerides is greater than 0.3 (normal rati is 0.2)
Both total cholestroal and trigylerides are about 250-500 range. with high LDL and normal HDL. it is autosomal recessive.
Beta-VLDL detected in agarose gel electrophoresis.
Autosomal recessive second to defective or absent apo E apo-E2 instead of apo E3 that lead to less clearance of chylomicrons remanants.
Patient present with tuberoeruptive xanthoma, plamar xanthoma.
Type IV: Familial hypertriglycerdemia:
Increase triglycerides (200-500 mg/dl) and commonly low HDL . Total cholesterol and LDL are normal.
Autosmal dominant Second to heterozygous mutation of LPL gene.
Causes increase risk of premature CAD.
Type V Mixed Hypertriglycerdemia:
increase in both Chylomicrons and VLDL
A refreigerated sample overnight will show two layers creamy supernatant from chylomicorns and lower turbid from VLDL.
Mostly secondary to partial type I due to partial LPL deficiency in patient with risk for increase triglyceride as obesity, ETOH, DM, hypothyroidism, nephrotic syndrome, estorgens or tamoxifen. Primary form is possibly due to defect on apo E.
May cause hepatosplenomgaly and eruptive xanthoma as type I
Thursday, April 16, 2009
Hirsuitism
Question 1: In the process of evaluation of a patient with hirsuitism, which statment is false:
1-Total testesterone is less than 150 ng/dl in most patients with PCO
2-LH:FSH ratio is more than 3 is diagostic in patients with PCO.
3- Adrenal CT or MRI is indicated to role out adrenal androgen-secreting tumor if serum DHEA-s is > 700 mcg/dL .
4- A transvaginal ultrasound if serum total testesterone is > 150 ng/dL, and DHA is not significantly elevated.
5- Labroscopy is indicated if testesterone level is > 200 ng/dL with negative imaging of ovaries and adrenals to look for a small ovarian tumor (likely a hilus-cell tumor) that is too small to be detected by ultrasonography.
The right answer is 2, LH:FSH ratio used to one of the criteria to diagnose PCO however due to the pulsatility of LH as well findings of same ratio in some normal women the test is not helpful.
Most patients with PCO have mildly elevated or even normal testosterone level high level of 150 or more suggests ovarian or adrenal tumors. An elevated DHEA-s will suggest to adrenal tumor while a normal a DHEA will suggest ovarian tumor in this condition.
Question -2 In treatment of women with hirsuitism which is the wrong answer:
1-BCP is added if cosmetic measures and direct hair removal methods are commonly ineffective alone.
2-BCP may take more than 6 months to show effect in hirsuitism.
3- Anti-androgens typically spironolactone is added if BCP is not effective.
4- Avandia is effective in treating hirsuitism due to PCO.
5- Metformin have been shown to be effective in hirsuitism due to PCO.
6- Vaniqa cream for short course of 6 months will cure hirsuitism.
7- Flutamide to be avoided for hepatotoxicity.
The right answer is 6. BCP (Birth Control Pills) is the drug of choice if cosmetic measures are not effective alone. If it fails anti-androgens is added on or if used alone patient has to be in highly effective way of contraception since have effect on sex organs of male fetus. Typically spironolactone is used, flutamide has high risk of hepatoxicity. Cyproterone and finasteride are two other antiadnrogens. Though avandia (rosiglitzone) is effective in decreasing hirsuitism it cause weight gain and has a cardiovascular risk. Metformin in metanalysis of 8 studies found to be ineffective in diminishing hirsuitsim. Vaniqa cream will suppress hair growth temporarily and recurrence is common unless it is continued or BCP and anti-androgens are used as well.
LDL Pearls
By: Maged Taman
1- Adults 20 years old or more should have fasting lipid profile. If normal they can retested at least once every 5 years.
2- Lipid profile is fasting Total cholesterol, triglycerides, LDL (bad cholesterol and HDL (good cholesterol).
3- Lipid profile assessment:
Total cholesterol: <200>150 normal (preferable <100>140/90 or in blood pressure medicine.
Low HDL
Family history of premature CAD: father, brother or son <55>45 years old and women >55 years old.
HDL > 60 cancells one of the above risk factors.
5- CAD equivalents: these are other astherosclerotic manifestations that lead to same risks of CAD death and nonfatal MI like that of established CAD. They are:
peripheral vascular disease
Abdominal Aortic aneurysm.
Carotid artery disease.
Diabetes Mellitus.
10-year risk> 20%
6- LDL and non HDL goals:
CAD or CAD equivalents:
LDL goal is <100>100 or even >70
Non-HDL goal (total cholesterol - HDL) <130>130
drug for LDL > 130 and 10 year risk of 10-20%
Drug for LDL >160 and 10 year risk is <10> 160
Drug for LDL > 190
Non-HDL goal <190
7- Statins are the drug of choice for above patients decreases LDL 20-60%, resins 15-30 %, nicotinc acid 10-25 %, fibrates 5-20%, cholesterol absorption blocker Zetia 17%.
8- Patients with premature CAD and normal lipid profile: check LP (a), apo B and homocysteine.
1- Adults 20 years old or more should have fasting lipid profile. If normal they can retested at least once every 5 years.
2- Lipid profile is fasting Total cholesterol, triglycerides, LDL (bad cholesterol and HDL (good cholesterol).
3- Lipid profile assessment:
Total cholesterol: <200>150 normal (preferable <100>140/90 or in blood pressure medicine.
Low HDL
Family history of premature CAD: father, brother or son <55>45 years old and women >55 years old.
HDL > 60 cancells one of the above risk factors.
5- CAD equivalents: these are other astherosclerotic manifestations that lead to same risks of CAD death and nonfatal MI like that of established CAD. They are:
peripheral vascular disease
Abdominal Aortic aneurysm.
Carotid artery disease.
Diabetes Mellitus.
10-year risk> 20%
6- LDL and non HDL goals:
CAD or CAD equivalents:
LDL goal is <100>100 or even >70
Non-HDL goal (total cholesterol - HDL) <130>130
drug for LDL > 130 and 10 year risk of 10-20%
Drug for LDL >160 and 10 year risk is <10> 160
Drug for LDL > 190
Non-HDL goal <190
7- Statins are the drug of choice for above patients decreases LDL 20-60%, resins 15-30 %, nicotinc acid 10-25 %, fibrates 5-20%, cholesterol absorption blocker Zetia 17%.
8- Patients with premature CAD and normal lipid profile: check LP (a), apo B and homocysteine.
Saturday, April 11, 2009
Bronchial Carcinoid Tumors
All are true about bronchial carcinoids except:
1- arises from Kulchitsky cells one type of the neuroendocrine cells APUD.
2- Serum chromogranin A mild elevated.
3- Causes carinoid syndrome in less than 5%.
4- Causes acromegaly due to releasing GHRH.
5- Can cause Cushing second to the release of ectopic ACTH.
6- Silver stain is the gold standard to identify the tumors histologically.
7- CT lung will identify most of the tumors. MR with gado will show enhancement of T2 if CT can not distinguish them from vessels. Octreotide scan will show metastasis however these are rare and the scan picks up other tumors and granuloma.
8- In bronchoscopy the tumor have characteristic appearance.
9- Central carcionids are diagnosed by biopsy through bronchoscopy.
10- peripheral carcinoids are diagnosed by CT-guided transthoracic needle aspiration.
11- Treatment of choice is surgical excision with mediastinal lymph node resection.
12- Liver is the most common site of metastasis that are better image by MRI, resection would prolong survival.
13- In patient with more advanced disease the treatment of choice is somatostatin analogue.
All are correct except silver stain it used to be the common stain used in the past now the confirmatory immunohistochemical stain in diagnosing Carcinoids are NSE, synaptophysin and chromogranin. The tumors are commonly locally malignant and slowly growing with 10 years survival is over 80% atypical carinoids however tends to have worse prognosis. MRI of the liver will identify metastasis to the liver. Though carcinoids rarely metastasis less than 5%. The liver is the main site of their metastasis.
1- arises from Kulchitsky cells one type of the neuroendocrine cells APUD.
2- Serum chromogranin A mild elevated.
3- Causes carinoid syndrome in less than 5%.
4- Causes acromegaly due to releasing GHRH.
5- Can cause Cushing second to the release of ectopic ACTH.
6- Silver stain is the gold standard to identify the tumors histologically.
7- CT lung will identify most of the tumors. MR with gado will show enhancement of T2 if CT can not distinguish them from vessels. Octreotide scan will show metastasis however these are rare and the scan picks up other tumors and granuloma.
8- In bronchoscopy the tumor have characteristic appearance.
9- Central carcionids are diagnosed by biopsy through bronchoscopy.
10- peripheral carcinoids are diagnosed by CT-guided transthoracic needle aspiration.
11- Treatment of choice is surgical excision with mediastinal lymph node resection.
12- Liver is the most common site of metastasis that are better image by MRI, resection would prolong survival.
13- In patient with more advanced disease the treatment of choice is somatostatin analogue.
All are correct except silver stain it used to be the common stain used in the past now the confirmatory immunohistochemical stain in diagnosing Carcinoids are NSE, synaptophysin and chromogranin. The tumors are commonly locally malignant and slowly growing with 10 years survival is over 80% atypical carinoids however tends to have worse prognosis. MRI of the liver will identify metastasis to the liver. Though carcinoids rarely metastasis less than 5%. The liver is the main site of their metastasis.
Friday, April 10, 2009
Glucagonoma
All of the following are true about glucagnoma except:
1- The tumore arises from the alpha cells of the pancreas.
2- The tumor most often arise from the tail of the pancrease.
3- Necrolytic migratory erythema rash is specific to glucagonoma.
4- Glucagon level > 1000pg/ml is diagnostic.
5- CT abdomen with contrast is intial study for localization.
6- Endoscopic US of pancreas will help both the localization and obtaining biopsy of the tumor.
7- It is among endocrine tumors that is uniquely associated with venous thromboembolism.
All are true except 3, this rash can occur in other conditions, however it is commonly the clue to this rare diagnosis. Weight loss and diabetes mellitus are common as well. Neuropsychiatric symptoms are common. The diagnosis is usally established late after the tumor have metastasized. The diagnosis is usually made after the skin rash occured and glucagon level is commonly quite elevated > 500 the normal is 100 level can be at high normal in few patients. CT is usually the test ordered to localize the tumor and potential metastasis which are commonly to the liver. Octreotoide scan will also show the tumor and metastasis however rarely needed since the CT will visualize the tumor in most cases. The second study is usually through endoscopic US that can identify tumors and as well allow needle biopsy of the tumors in the pancreas. In the early cases with no metastasis surgical removal of the tumor is done. In hepatic predominant disease from metastasis resection of hepatic metastasis or hepatic artery embolization may be effective in slowing the disease. Octretoide is quite effective in controlling the symptoms however regress of tumor is not clearly shown. Alpha interferon and chemotherapy are other options. Disease is monitored regularly with serum glucagon and CT. It is not uncoomon to have 5 year survival of 50% in metastatic slowly progressing disease.
1- The tumore arises from the alpha cells of the pancreas.
2- The tumor most often arise from the tail of the pancrease.
3- Necrolytic migratory erythema rash is specific to glucagonoma.
4- Glucagon level > 1000pg/ml is diagnostic.
5- CT abdomen with contrast is intial study for localization.
6- Endoscopic US of pancreas will help both the localization and obtaining biopsy of the tumor.
7- It is among endocrine tumors that is uniquely associated with venous thromboembolism.
All are true except 3, this rash can occur in other conditions, however it is commonly the clue to this rare diagnosis. Weight loss and diabetes mellitus are common as well. Neuropsychiatric symptoms are common. The diagnosis is usally established late after the tumor have metastasized. The diagnosis is usually made after the skin rash occured and glucagon level is commonly quite elevated > 500 the normal is 100 level can be at high normal in few patients. CT is usually the test ordered to localize the tumor and potential metastasis which are commonly to the liver. Octreotoide scan will also show the tumor and metastasis however rarely needed since the CT will visualize the tumor in most cases. The second study is usually through endoscopic US that can identify tumors and as well allow needle biopsy of the tumors in the pancreas. In the early cases with no metastasis surgical removal of the tumor is done. In hepatic predominant disease from metastasis resection of hepatic metastasis or hepatic artery embolization may be effective in slowing the disease. Octretoide is quite effective in controlling the symptoms however regress of tumor is not clearly shown. Alpha interferon and chemotherapy are other options. Disease is monitored regularly with serum glucagon and CT. It is not uncoomon to have 5 year survival of 50% in metastatic slowly progressing disease.
Glucocorticoid-Remediable Aldosteronism
In Glucocorticoid-Remediable Aldosteronism (GRA) all are true except:
1- It is an autosomal dominant condition.
2- Patients commonly present before age of 21 years old with hypertension.
3- Family history may be obtained of GRA, brain aneurysms or intracranial hemorrhage.
4- It is due to increase production of ACTH-sensitive aldosterone in the zona fasciulata.
5- Aldosterone:renin ratio and hypokalemia are not as significant as in primary hyperaldosteronism.
6- It is primarily diagnosed with dexamthazone suppression test and the presence of elevated 18 hydroxycortisol and 18 oxocortisol.
7- It is well treatable with glucocorticoid or aldosterone receptor antagonist.
All are true except 6 the primary diagnosis now is with demonstration of the chimeric gene. It should be considered in patients with early hypertension, family history or early strokes <40>
1- It is an autosomal dominant condition.
2- Patients commonly present before age of 21 years old with hypertension.
3- Family history may be obtained of GRA, brain aneurysms or intracranial hemorrhage.
4- It is due to increase production of ACTH-sensitive aldosterone in the zona fasciulata.
5- Aldosterone:renin ratio and hypokalemia are not as significant as in primary hyperaldosteronism.
6- It is primarily diagnosed with dexamthazone suppression test and the presence of elevated 18 hydroxycortisol and 18 oxocortisol.
7- It is well treatable with glucocorticoid or aldosterone receptor antagonist.
All are true except 6 the primary diagnosis now is with demonstration of the chimeric gene. It should be considered in patients with early hypertension, family history or early strokes <40>
Craniopharyngioma
All are true about Craniopharyngioma except:
1- Arises from remnants of Rhathke pouch.
2- A cystic calcified lesion in CT is very suggestive of the tumor.
3- Is malignant with metastasis in 20%.
4- Primary treatment is surgery.
5- Edema along optic tract is common finding in MRI.
6- Both anterior and posterior pituitary can be affected.
All are true except 3 it is a benign tumor but has high recurrence rate that it is dealt with as locally malignant tumor. Histologically it can be cystic epithelia, epithelial islands with degenerative cysts or epithelial humps like the enamel of developing teeth. It rarely metastasizes. Surgery is commonly incomplete and is followed by radiation. Attempt of total or subtotal excision using microsurgery decreases recurrence but has high operative mortality and morbidity rates. Cyst aspiration or intracystic radiation or chemotherapy may be used for recreant cysts. Patients commonly present in childhood with delay growth and in adult age with sexual dysfunction of amenorrhea in females and erectile dysfunction in males. hypothyroidism, adrenal insufficiency increase prolactin and central DI can also occur. Headaches and change in vision due to pressure in the optic chiasma can also occur.
1- Arises from remnants of Rhathke pouch.
2- A cystic calcified lesion in CT is very suggestive of the tumor.
3- Is malignant with metastasis in 20%.
4- Primary treatment is surgery.
5- Edema along optic tract is common finding in MRI.
6- Both anterior and posterior pituitary can be affected.
All are true except 3 it is a benign tumor but has high recurrence rate that it is dealt with as locally malignant tumor. Histologically it can be cystic epithelia, epithelial islands with degenerative cysts or epithelial humps like the enamel of developing teeth. It rarely metastasizes. Surgery is commonly incomplete and is followed by radiation. Attempt of total or subtotal excision using microsurgery decreases recurrence but has high operative mortality and morbidity rates. Cyst aspiration or intracystic radiation or chemotherapy may be used for recreant cysts. Patients commonly present in childhood with delay growth and in adult age with sexual dysfunction of amenorrhea in females and erectile dysfunction in males. hypothyroidism, adrenal insufficiency increase prolactin and central DI can also occur. Headaches and change in vision due to pressure in the optic chiasma can also occur.
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