Pheochromocytoma laboratory findings: Difference between revisions
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* Episodes of palpitation, headache and tremors for unknown reasons. | * Episodes of palpitation, headache and tremors for unknown reasons. | ||
* Hypertension at age <20 years), resistant hypertension. | * Hypertension at age <20 years), resistant hypertension. | ||
* A family history of pheochromocytoma, multiple endocrine neoplasia | * A family history of pheochromocytoma, multiple endocrine neoplasia types 2, neurofibromatosis type 1, or von Hippel-Lindau. | ||
* | * The presence of bilateral, extra-adrenal or multiple tumors or a malignant tumor, should be seen as indications for genetic testing. | ||
* An incidentally discovered adrenal mass that does not have imaging characteristics consistent with pheochromocytoma. | * An incidentally discovered adrenal mass that does not have imaging characteristics consistent with pheochromocytoma. | ||
'''High-risk patients''' | '''High-risk patients''' | ||
* Plasma fractionated metanephrines are the first test if elevated; 24-hour urinary fractionated metanephrines, catecholamines, and imaging should be the second test for diagnosis. <ref name="pmid11903030">{{cite journal| author=Lenders JW, Pacak K, Walther MM, Linehan WM, Mannelli M, Friberg P et al.| title=Biochemical diagnosis of pheochromocytoma: which test is best? | journal=JAMA | year= 2002 | volume= 287 | issue= 11 | pages= 1427-34 | pmid=11903030 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11903030 }}</ref> | |||
* High-risk patients include a family history of MEN2 and VHL syndrome or past history of pheochromocytoma. | |||
* DIagnostic cutoffs to exclude pheochromocytoma are metanephrine <0.3 nmol/L and normetanephrine <0.66 nmol/L.<ref name="pmid7778821">{{cite journal| author=Lenders JW, Keiser HR, Goldstein DS, Willemsen JJ, Friberg P, Jacobs MC et al.| title=Plasma metanephrines in the diagnosis of pheochromocytoma. | journal=Ann Intern Med | year= 1995 | volume= 123 | issue= 2 | pages= 101-9 | pmid=7778821 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7778821 }}</ref> | |||
'''Low-risk patients''' | |||
* Twenty-four-hour urinary fractionated catecholamines and metanephrines are the tests of choice.<ref name="pmid12574179">{{cite journal| author=Sawka AM, Jaeschke R, Singh RJ, Young WF| title=A comparison of biochemical tests for pheochromocytoma: measurement of fractionated plasma metanephrines compared with the combination of 24-hour urinary metanephrines and catecholamines. | journal=J Clin Endocrinol Metab | year= 2003 | volume= 88 | issue= 2 | pages= 553-8 | pmid=12574179 | doi=10.1210/jc.2002-021251 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12574179 }}</ref> | |||
* Twenty-four-hour urine fractionated metanephrines and catecholamines, results cut offs are: | |||
* Normetanephrine >900 mcg/24 hours. | * Normetanephrine >900 mcg/24 hours. | ||
* | * Metanephrine >400 mcg/24 hours. | ||
* Norepinephrine >170 mcg/24 hours. | * Norepinephrine >170 mcg/24 hours. | ||
* Epinephrine >35 mcg/24 hours. | * Epinephrine >35 mcg/24 hours. | ||
* Dopamine >700 mcg/24 hours. | * Dopamine >700 mcg/24 hours. | ||
* No further evaluation is necessary if results are negative. | |||
'''NB''': Discontinue TCAs two weeks before any hormonal assessments because they interrupt 24-hour urinary catecholamines metabolism.<ref name="pmid171215182">{{cite journal| author=Gimenez-Roqueplo AP, Lehnert H, Mannelli M, Neumann H, Opocher G, Maher ER et al.| title=Phaeochromocytoma, new genes and screening strategies. | journal=Clin Endocrinol (Oxf) | year= 2006 | volume= 65 | issue= 6 | pages= 699-705 | pmid=17121518 | doi=10.1111/j.1365-2265.2006.02714.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17121518 }}</ref> | '''NB''': Discontinue TCAs two weeks before any hormonal assessments because they interrupt 24-hour urinary catecholamines metabolism.<ref name="pmid171215182">{{cite journal| author=Gimenez-Roqueplo AP, Lehnert H, Mannelli M, Neumann H, Opocher G, Maher ER et al.| title=Phaeochromocytoma, new genes and screening strategies. | journal=Clin Endocrinol (Oxf) | year= 2006 | volume= 65 | issue= 6 | pages= 699-705 | pmid=17121518 | doi=10.1111/j.1365-2265.2006.02714.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17121518 }}</ref> | ||
| Line 44: | Line 44: | ||
* Paraganglioma. | * Paraganglioma. | ||
* Unilateral pheochromocytoma at a young age. | * Unilateral pheochromocytoma at a young age. | ||
It is autosomal dominant inheritance and has two pathways of tumor pathogenesis. Cluster 1 tumors are noradrenergic and extra adrenal except VHL. Cluster 2 tumors are adrenergic.<sup>[[Pheochromocytoma pathophysiology#cite note-pmid23933153-3|[3]]]</sup> | It is [[autosomal dominant inheritance]] and has two pathways of tumor pathogenesis. Cluster 1 tumors are noradrenergic and extra adrenal except [[VHL]]. Cluster 2 tumors are adrenergic.<sup>[[Pheochromocytoma pathophysiology#cite note-pmid23933153-3|[3]]]</sup> | ||
{| class="wikitable" | {| class="wikitable" | ||
!Cluster 1 | !Cluster 1 | ||
| Line 50: | Line 50: | ||
|- | |- | ||
! | ! | ||
* Succinate dehydrogenase (SDH) subunit genes | * [[Succinate dehydrogenase]] (SDH) subunit genes | ||
* Von Hippel-Lindau (VHL) disease | * [[Von Hippel-Lindau Disease|Von Hippel-Lindau]] (VHL) disease | ||
* Fumarate hydratase gene mutations | * [[Fumarate hydratase]] gene mutations | ||
| | | | ||
* '''Multiple endocrine neoplasia type 2A''' | * '''[[Multiple endocrine neoplasia type 2A]]''' | ||
* '''Multiple endocrine neoplasia type 2B''' | * '''Multiple endocrine neoplasia type 2B''' | ||
* '''Neurofibromatosis type 1 (NF1)''' | * '''[[Neurofibromatosis type I|Neurofibromatosis type 1]] (NF1)''' | ||
|} | |} | ||
Revision as of 14:42, 31 July 2017
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Ahmad Al Maradni, M.D. [2] Mohammed Abdelwahed M.D[3]
Overview
Laboratory findings of pheochromocytoma include elevated 24-hour urinary fractionated catecholamines and metanephrines for low-risk patients and plasma fractionated metanephrines for high-risk ones.
Laboratory Findings
Diagnostic lab findings associated with pheochromocytoma include:
- Elevated plasma and urinary catecholamines and metanephrines
- Elevated urinary vanillyl mandelic acid
Indications of pheochromocytoma testing:[1]
- Triad of tachycardia, headache, and sweating.
- Episodes of palpitation, headache and tremors for unknown reasons.
- Hypertension at age <20 years), resistant hypertension.
- A family history of pheochromocytoma, multiple endocrine neoplasia types 2, neurofibromatosis type 1, or von Hippel-Lindau.
- The presence of bilateral, extra-adrenal or multiple tumors or a malignant tumor, should be seen as indications for genetic testing.
- An incidentally discovered adrenal mass that does not have imaging characteristics consistent with pheochromocytoma.
High-risk patients
- Plasma fractionated metanephrines are the first test if elevated; 24-hour urinary fractionated metanephrines, catecholamines, and imaging should be the second test for diagnosis. [2]
- High-risk patients include a family history of MEN2 and VHL syndrome or past history of pheochromocytoma.
- DIagnostic cutoffs to exclude pheochromocytoma are metanephrine <0.3 nmol/L and normetanephrine <0.66 nmol/L.[3]
Low-risk patients
- Twenty-four-hour urinary fractionated catecholamines and metanephrines are the tests of choice.[4]
- Twenty-four-hour urine fractionated metanephrines and catecholamines, results cut offs are:
- Normetanephrine >900 mcg/24 hours.
- Metanephrine >400 mcg/24 hours.
- Norepinephrine >170 mcg/24 hours.
- Epinephrine >35 mcg/24 hours.
- Dopamine >700 mcg/24 hours.
- No further evaluation is necessary if results are negative.
NB: Discontinue TCAs two weeks before any hormonal assessments because they interrupt 24-hour urinary catecholamines metabolism.[5]
Patients with spells of elevated blood pressure (sudden onset of a symptom or symptoms) can be negative during in-between spells and should be tested directly after the attacks.[6]
Genetic testing:
It is suggested for:
- Bilateral adrenal pheochromocytoma.
- A family history of Von Hippel-Lindau syndrome, MEN2 and neurofibromatosis type 1.
- Paraganglioma.
- Unilateral pheochromocytoma at a young age.
It is autosomal dominant inheritance and has two pathways of tumor pathogenesis. Cluster 1 tumors are noradrenergic and extra adrenal except VHL. Cluster 2 tumors are adrenergic.[3]
| Cluster 1 | Cluster 2 |
|---|---|
|
|
References
- ↑ Gimenez-Roqueplo AP, Lehnert H, Mannelli M, Neumann H, Opocher G, Maher ER; et al. (2006). "Phaeochromocytoma, new genes and screening strategies". Clin Endocrinol (Oxf). 65 (6): 699–705. doi:10.1111/j.1365-2265.2006.02714.x. PMID 17121518.
- ↑ Lenders JW, Pacak K, Walther MM, Linehan WM, Mannelli M, Friberg P; et al. (2002). "Biochemical diagnosis of pheochromocytoma: which test is best?". JAMA. 287 (11): 1427–34. PMID 11903030.
- ↑ Lenders JW, Keiser HR, Goldstein DS, Willemsen JJ, Friberg P, Jacobs MC; et al. (1995). "Plasma metanephrines in the diagnosis of pheochromocytoma". Ann Intern Med. 123 (2): 101–9. PMID 7778821.
- ↑ Sawka AM, Jaeschke R, Singh RJ, Young WF (2003). "A comparison of biochemical tests for pheochromocytoma: measurement of fractionated plasma metanephrines compared with the combination of 24-hour urinary metanephrines and catecholamines". J Clin Endocrinol Metab. 88 (2): 553–8. doi:10.1210/jc.2002-021251. PMID 12574179.
- ↑ Gimenez-Roqueplo AP, Lehnert H, Mannelli M, Neumann H, Opocher G, Maher ER; et al. (2006). "Phaeochromocytoma, new genes and screening strategies". Clin Endocrinol (Oxf). 65 (6): 699–705. doi:10.1111/j.1365-2265.2006.02714.x. PMID 17121518.
- ↑ Young WF, Maddox DE (1995). "Spells: in search of a cause". Mayo Clin Proc. 70 (8): 757–65. PMID 7630214.