Pheochromocytoma laboratory findings: Difference between revisions
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==Laboratory Findings== | ==Laboratory Findings== | ||
Diagnostic lab findings associated with pheochromocytoma include: | Diagnostic lab findings associated with pheochromocytoma include: | ||
* Elevated plasma and urinary [[catecholamine]]s and [[metanephrine]]s | * Elevated [[plasma]] and [[urinary]] [[catecholamine]]s and [[metanephrine]]s | ||
* Elevated urinary [[vanillyl mandelic acid]] | * Elevated urinary [[vanillyl mandelic acid]] | ||
'''Indications of pheochromocytoma testing''':<ref name="pmid17121518">{{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> | '''Indications of pheochromocytoma testing''':<ref name="pmid17121518">{{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> | ||
* Triad of tachycardia, headache, and sweating. | * Triad of [[tachycardia]], [[headache]], and [[sweating]]. | ||
* Episodes of [[palpitation]], [[headache]] and tremors for unknown reasons. | * Episodes of [[palpitation]], [[headache]] and [[tremors]] for unknown reasons. | ||
* [[Hypertension]] at age <20 years | * [[Hypertension]] at age <20 years, resistant [[hypertension]]. | ||
* A family history of pheochromocytoma, multiple endocrine neoplasia types | * A [[family history]] of pheochromocytoma, [[multiple endocrine neoplasia]] [[Multiple endocrine neoplasia type 1|types 1]] and [[MEN2b|2B]], [[neurofibromatosis type 1]], or [[Von Hippel-Lindau disease]]. | ||
* The presence of bilateral, extra-adrenal or multiple tumors or a malignant tumor, should be seen as indications for genetic testing. | * The presence of bilateral, extra-[[Adrenal gland|adrenal]] or multiple [[Tumor|tumors]] or a [[Malignant tumors|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 causes|adrenal mass]] that does not have imaging characteristics consistent with pheochromocytoma. | ||
'''High-risk patients''' | '''High-risk patients''' | ||
* Plasma fractionated metanephrines | * [[Plasma]] fractionated [[Metanephrine|metanephrines]] levels is the first test and if elevated, 24-hour [[urinary]] fractionated [[Metanephrine|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. | * High-risk patients include a [[family history]] of [[MEN2]] and [[Von Hippel-Lindau disease|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''' | '''Low-risk patients''' | ||
* Twenty-four | * Twenty-four hour [[urinary]] fractionated [[catecholamines]] and [[Metanephrine|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> | ||
* | * The cut-off values are as follows: | ||
* [[Normetanephrine]] >900 mcg/24 hours. | * [[Normetanephrine]] >900 mcg/24 hours. | ||
| Line 33: | Line 33: | ||
* No further evaluation is necessary if results are negative. | * No further evaluation is necessary if results are negative. | ||
'''NB''': Discontinue [[Tricyclic antidepressant|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[[Tricyclic antidepressant|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> | ||
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.<ref name="pmid7630214">{{cite journal| author=Young WF, Maddox DE| title=Spells: in search of a cause. | journal=Mayo Clin Proc | year= 1995 | volume= 70 | issue= 8 | pages= 757-65 | pmid=7630214 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7630214 }}</ref> | 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.<ref name="pmid7630214">{{cite journal| author=Young WF, Maddox DE| title=Spells: in search of a cause. | journal=Mayo Clin Proc | year= 1995 | volume= 70 | issue= 8 | pages= 757-65 | pmid=7630214 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7630214 }}</ref> | ||
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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 1 and 2B, neurofibromatosis type 1, or Von Hippel-Lindau disease.
- 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 levels is the first test and 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]
- The cut-off values are as follows:
- 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: DiscontinueTCAs 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]
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.