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Laboratory Investigation in CDH

  • Benjamin J. Saunders
  • Iryna S. Aberkorn
  • Barbara L. Nye
Chapter

Abstract

It is important to ensure that the patient with chronic daily headache has had a thorough evaluation to rule out secondary causes of headache. This includes the use of laboratory studies on serum as well as cerebral spinal fluid (CSF). In this chapter we will walk through the appropriate evaluation in the emergency department as well as the outpatient setting starting with serology, then CSF, and genetic testing. We will end with a discussion of special cases, including pregnancy, immunocompromised patient, traumatic brain injury, and hypercoagulability states.

Keywords

Chronic daily headache Lumbar puncture Serological testing Genetic testing 

References

  1. 1.
    George JN, et al. Drug-induced thrombocytopenia: a systematic review of published case reports. Ann Intern Med. 1998;129(11):886–90.CrossRefPubMedGoogle Scholar
  2. 2.
    Chang CY, Schiano TD. Review article: drug hepatotoxicity. Aliment Pharmacol Ther. 2007;25(10):1135–51.CrossRefPubMedGoogle Scholar
  3. 3.
    Tietjen GE, Collins SA. Hypercoagulability and migraine. Headache. 2017;58(1):173–83.CrossRefPubMedGoogle Scholar
  4. 4.
    Zakharova MY, et al. Risk factors for heart attack, stroke, and venous thrombosis associated with hormonal contraceptive use. Clin Appl Thromb Hemost. 2011;17(4):323–31.CrossRefPubMedGoogle Scholar
  5. 5.
    Miyakis S, et al. International consensus statement on an update of the classification criteria for definite antiphospholipid syndrome (APS). J Thromb Haemost. 2006;4(2):295–306.CrossRefGoogle Scholar
  6. 6.
    Coutinho JM, et al. Cerebral venous and sinus thrombosis in women. Stroke. 2009;40(7):2356–61.CrossRefPubMedGoogle Scholar
  7. 7.
    Crassard I, et al. A negative D-dimer assay does not rule out cerebral venous thrombosis: a series of seventy-three patients. Stroke. 2005;36(8):1716–9.CrossRefPubMedGoogle Scholar
  8. 8.
    Alons IM, et al. D-dimer for the exclusion of cerebral venous thrombosis: a meta-analysis of low risk patients with isolated headache. BMC Neurol. 2015;15:118.CrossRefPubMedPubMedCentralGoogle Scholar
  9. 9.
    Kudva YC, Sawka AM, Young WF Jr. Clinical review 164: the laboratory diagnosis of adrenal pheochromocytoma: the Mayo Clinic experience. J Clin Endocrinol Metab. 2003;88(10):4533–9.CrossRefPubMedGoogle Scholar
  10. 10.
    Loder E, Cardona L. Evaluation for secondary causes of headache: the role of blood and urine testing. Headache. 2011;51(2):338–45.CrossRefPubMedGoogle Scholar
  11. 11.
    Headache Classification Committee of the International Headache Society (IHS). The international classification of headache disorders, 3rd edition (beta version). Cephalalgia. 2013;33(9):629–808.CrossRefGoogle Scholar
  12. 12.
    Hunder GG, et al. The American college of rheumatology 1990 criteria for the classification of giant cell arteritis. Arthritis Rheum. 1990;33(8):1122–8.CrossRefPubMedGoogle Scholar
  13. 13.
    Miller A, Green M, Robinson D. Simple rule for calculating normal erythrocyte sedimentation rate. Br Med J (Clin Res Ed). 1983;286(6361):266.CrossRefGoogle Scholar
  14. 14.
    Hayreh SS, et al. Giant cell arteritis: validity and reliability of various diagnostic criteria. Am J Ophthalmol. 1997;123(3):285–96.CrossRefPubMedGoogle Scholar
  15. 15.
    Levin M, Ward TN. Horton's disease: past and present. Curr Pain Headache Rep. 2005;9(4):259–63.CrossRefPubMedGoogle Scholar
  16. 16.
    Nye BL, Ward TN. Clinic and emergency room evaluation and testing of headache. Headache. 2015;55(9):1301–8.CrossRefPubMedGoogle Scholar
  17. 17.
    Costello F, et al. Role of thrombocytosis in diagnosis of giant cell arteritis and differentiation of arteritic from non-arteritic anterior ischemic optic neuropathy. Eur J Ophthalmol. 2004;14(3):245–57.CrossRefPubMedGoogle Scholar
  18. 18.
    Parikh M, et al. Prevalence of a normal C-reactive protein with an elevated erythrocyte sedimentation rate in biopsy-proven giant cell arteritis. Ophthalmology. 2006;113(10):1842–5.CrossRefPubMedGoogle Scholar
  19. 19.
    Mayer M, et al. Antiphospholipid syndrome and central nervous system. Clin Neurol Neurosurg. 2010;112(7):602–8.CrossRefPubMedGoogle Scholar
  20. 20.
    Glueck CJ, et al. Idiopathic intracranial hypertension: associations with coagulation disorders and polycystic-ovary syndrome. J Lab Clin Med. 2003;142(1):35–45.CrossRefPubMedGoogle Scholar
  21. 21.
    Kim JM, et al. Idiopathic intracranial hypertension as a significant cause of intractable headache in patients with systemic lupus erythematosus: a 15-year experience. Lupus. 2012;21(5):542–7.CrossRefPubMedGoogle Scholar
  22. 22.
    Tse C, Klein R. Intracranial hypertension associated with systemic lupus erythematosus in a young male patient. Lupus. 2013;22(2):205–12.CrossRefPubMedGoogle Scholar
  23. 23.
    Dhungana S, Sharrack B, Woodroofe N. Idiopathic intracranial hypertension. Acta Neurol Scand. 2010;121(2):71–82.CrossRefPubMedGoogle Scholar
  24. 24.
    Hanly JG, et al. Headache in systemic lupus erythematosus: results from a prospective, international inception cohort study. Arthritis Rheum. 2013;65(11):2887–97.CrossRefPubMedGoogle Scholar
  25. 25.
    Galli M. Clinical utility of laboratory tests used to identify antiphospholipid antibodies and to diagnose the antiphospholipid syndrome. Semin Thromb Hemost. 2008;34(4):329–34.CrossRefPubMedGoogle Scholar
  26. 26.
    Singh SK. Prevalence of migraine in hypothyroidism. J Assoc Physicians India. 2002;50:1455–6.PubMedGoogle Scholar
  27. 27.
    Moreau T, et al. Headache in hypothyroidism. Prevalence and outcome under thyroid hormone therapy. Cephalalgia. 1998;18(10):687–9.CrossRefPubMedGoogle Scholar
  28. 28.
    Lima Carvalho MF, de Medeiros JS, Valenca MM. Headache in recent onset hypothyroidism: prevalence, characteristics and outcome after treatment with levothyroxine. Cephalalgia. 2016;37(10):938–46.CrossRefPubMedGoogle Scholar
  29. 29.
    Iwasaki Y, et al. Thyroid function in patients with chronic headache. Int J Neurosci. 1991;57(3–4):263–7.CrossRefPubMedGoogle Scholar
  30. 30.
    Amy JR. Tests of thyroid function in chronic headache patients. Headache. 1987;27(6):351–3.CrossRefPubMedGoogle Scholar
  31. 31.
    Hagen K, et al. Low headache prevalence amongst women with high TSH values. Eur J Neurol. 2001;8(6):693–9.CrossRefPubMedGoogle Scholar
  32. 32.
    Martin AT, et al. Headache disorders may be a risk factor for the development of new onset hypothyroidism. Headache. 2017;57(1):21–30.CrossRefPubMedGoogle Scholar
  33. 33.
    Surks MI, et al. Subclinical thyroid disease: scientific review and guidelines for diagnosis and management. JAMA. 2004;291(2):228–38.CrossRefPubMedPubMedCentralGoogle Scholar
  34. 34.
    Miraglia CM. A review of the centers for disease control and prevention's guidelines for the clinical laboratory diagnosis of Lyme disease. J Chiropr Med. 2016;15(4):272–80.CrossRefPubMedPubMedCentralGoogle Scholar
  35. 35.
    Understanding the EIA Test| Lyme Disease | CDC. [cited 2017 May 16]; Available from: https://www.cdc.gov/lyme/diagnosistesting/labtest/twostep/eia/index.htm.
  36. 36.
    Dressler F, et al. Western blotting in the serodiagnosis of Lyme disease. J Infect Dis. 1993;167(2):392–400.CrossRefPubMedGoogle Scholar
  37. 37.
    Two-step laboratory testing process| lyme disease | CDC. [cited 2017 May 16]; Available from: https://www.cdc.gov/lyme/diagnosistesting/labtest/twostep/.
  38. 38.
    Notice to Readers Recommendations for Test Performance and Interpretation from the Second National Conference on Serologic Diagnosis of Lyme Disease. [cited 2017 May 16]; Available from: https://www.cdc.gov/mmwr/preview/mmwrhtml/00038469.htm.
  39. 39.
    Hinckley AF, et al. Lyme disease testing by large commercial laboratories in the United States. Clin Infect Dis. 2014;59(5):676–81.CrossRefPubMedPubMedCentralGoogle Scholar
  40. 40.
    Aucott J, et al. Diagnostic challenges of early Lyme disease: lessons from a community case series. BMC Infect Dis. 2009;9:79.CrossRefPubMedPubMedCentralGoogle Scholar
  41. 41.
    Aguero-Rosenfeld ME, et al. Evolution of the serologic response to Borrelia burgdorferi in treated patients with culture-confirmed erythema migrans. J Clin Microbiol. 1996;34(1):1–9.PubMedPubMedCentralGoogle Scholar
  42. 42.
    Lyme Disease | 2017 Case Definition. [cited 2017 May 16]; Available from: /nndss/conditions/lyme-disease/case-definition/2017/.Google Scholar
  43. 43.
    Ridzon R, et al. Simultaneous transmission of human immunodeficiency virus and hepatitis C virus from a needle-stick injury. N Engl J Med. 1997;336(13):919–22.CrossRefPubMedGoogle Scholar
  44. 44.
    Robb ML, et al. Prospective study of acute HIV-1 infection in adults in East Africa and Thailand. N Engl J Med. 2016;374(22):2120–30.CrossRefPubMedPubMedCentralGoogle Scholar
  45. 45.
    Ho DD, et al. Isolation of HTLV-III from cerebrospinal fluid and neural tissues of patients with neurologic syndromes related to the acquired immunodeficiency syndrome. N Engl J Med. 1985;313(24):1493–7.CrossRefPubMedGoogle Scholar
  46. 46.
    Schacker T, et al. CLinical and epidemiologic features of primary hiv infection. Ann Intern Med. 1996;125(4):257–64.CrossRefPubMedGoogle Scholar
  47. 47.
    HIV Among Gay and Bisexual Men. 2017; Available from: https://www.cdc.gov/hiv/group/msm/index.html.
  48. 48.
    Reichman EF, Polglaze K, Euerle B. Neurological and neurosurgical procedures: lumbar puncture. In: Emergency medicine procedures. New York: McGraw Hill; 2013. p. 747–61.Google Scholar
  49. 49.
    Lee SC, Lueck CJ. Cerebrospinal fluid pressure in adults. J Neuroophthalmol. 2014;34(3):278–83.CrossRefPubMedGoogle Scholar
  50. 50.
    Whiteley W, et al. CSF opening pressure: reference interval and the effect of body mass index. Neurology. 2006;67(9):1690–1.CrossRefPubMedGoogle Scholar
  51. 51.
    Friedman DI, Liu GT, Digre KB. Revised diagnostic criteria for the pseudotumor cerebri syndrome in adults and children. Neurology. 2013;81(13):1159–65.CrossRefPubMedGoogle Scholar
  52. 52.
    Stern BJ, et al. Sarcoidosis and its neurological manifestations. Arch Neurol. 1985;42(9):909–17.CrossRefPubMedGoogle Scholar
  53. 53.
    O'Connell K, et al. Neurosarcoidosis: clinical presentations and changing treatment patterns in an Irish Caucasian population. Ir J Med Sci. 2017;186(3):759–66.CrossRefPubMedGoogle Scholar
  54. 54.
    Joseph FG, Scolding NJ. Neurosarcoidosis: a study of 30 new cases. J Neurol Neurosurg Psychiatry. 2009;80(3):297–304.CrossRefPubMedGoogle Scholar
  55. 55.
    Kaplan JG, et al. Leptomeningeal metastases: comparison of clinical features and laboratory data of solid tumors, lymphomas and leukemias. J Neuro-Oncol. 1990;9(3):225–9.CrossRefGoogle Scholar
  56. 56.
    Glantz MJ, et al. Cerebrospinal fluid cytology in patients with cancer: minimizing false-negative results. Cancer. 1998;82(4):733–9.CrossRefPubMedGoogle Scholar
  57. 57.
    Rozen T, Swidan SZ. Elevation of CSF tumor necrosis factor alpha levels in new daily persistent headache and treatment refractory chronic migraine. Headache. 2007;47(7):1050–5.CrossRefPubMedGoogle Scholar
  58. 58.
    Saxon A. CSF TNFalpha has not been shown to be elevated in headache patients. Headache. 2015;55(9):1266.CrossRefPubMedGoogle Scholar
  59. 59.
    Rozen TD. TNF-alpha has not been shown to be elevated in headache patients: a response. Headache. 2015;55(9):1267.CrossRefPubMedGoogle Scholar
  60. 60.
    Rozen TD, Beams JL. New daily persistent headache with a thunderclap headache onset and complete response to nimodipine (a new distinct subtype of NDPH). J Headache Pain. 2013;14:100.CrossRefPubMedPubMedCentralGoogle Scholar
  61. 61.
    Terlizzi R, et al. P037. Headache in multiple sclerosis: prevalence and clinical features in a case control-study. J Headache Pain. 2015;16(Suppl 1):A83.CrossRefPubMedPubMedCentralGoogle Scholar
  62. 62.
    Huss AM, et al. Importance of cerebrospinal fluid analysis in the era of McDonald 2010 criteria: a German-Austrian retrospective multicenter study in patients with a clinically isolated syndrome. J Neurol. 2016;263(12):2499–504.CrossRefPubMedPubMedCentralGoogle Scholar
  63. 63.
    Lim ET, et al. Anti-myelin antibodies do not allow earlier diagnosis of multiple sclerosis. Mult Scler. 2005;11(4):492–4.CrossRefPubMedGoogle Scholar
  64. 64.
    Maksemous N, et al. Targeted next generation sequencing identifies novel NOTCH3 gene mutations in CADASIL diagnostics patients. Hum Genomics. 2016;10(1):38.CrossRefPubMedPubMedCentralGoogle Scholar
  65. 65.
    Liem MK, et al. CADASIL and migraine: a narrative review. Cephalalgia. 2010;30(11):1284–9.CrossRefPubMedGoogle Scholar
  66. 66.
    Guey S, et al. Prevalence and characteristics of migraine in CADASIL. Cephalalgia. 2015;36(11):1038–47.CrossRefGoogle Scholar
  67. 67.
    Essmeister R, et al. MTHFR and ACE polymorphisms do not increase susceptibility to migraine neither alone nor in combination. Headache. 2016;56(8):1267–73.CrossRefPubMedGoogle Scholar
  68. 68.
    Lea RA, et al. Genetic variants of angiotensin converting enzyme and methylenetetrahydrofolate reductase may act in combination to increase migraine susceptibility. Brain Res Mol Brain Res. 2005;136(1–2):112–7.CrossRefPubMedGoogle Scholar
  69. 69.
    Pavlakis SG, et al. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome. Ann Neurol. 1984;16(4):481–8.CrossRefPubMedGoogle Scholar
  70. 70.
    Montagna P, et al. MELAS syndrome: characteristic migrainous and epileptic features and maternal transmission. Neurology. 1988;38(5):751–4.CrossRefPubMedGoogle Scholar
  71. 71.
    Ohno K, Isotani E, Hirakawa K. MELAS presenting as migraine complicated by stroke: case report. Neuroradiology. 1997;39(11):781–4.CrossRefPubMedGoogle Scholar
  72. 72.
    Koenig MK, et al. Recommendations for the management of strokelike episodes in patients with mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes. JAMA Neurol. 2016;73(5):591–4.CrossRefPubMedGoogle Scholar
  73. 73.
    Kaufmann P, et al. Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype. Neurology. 2011;77(22):1965–71.CrossRefPubMedPubMedCentralGoogle Scholar
  74. 74.
    Sunde K, et al. Case report: 5 year follow-up of adult late-onset mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS). Mol Genet Metab Rep. 2016;9:94–7.CrossRefPubMedPubMedCentralGoogle Scholar
  75. 75.
    Ophoff RA, et al. Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell. 1996;87(3):543–52.CrossRefPubMedGoogle Scholar
  76. 76.
    Russell MB, Ducros A. Sporadic and familial hemiplegic migraine: pathophysiological mechanisms, clinical characteristics, diagnosis, and management. Lancet Neurol. 2011;10(5):457–70.CrossRefGoogle Scholar
  77. 77.
    Thomsen LL, et al. The genetic spectrum of a population-based sample of familial hemiplegic migraine. Brain. 2007;130(Pt 2):346–56.CrossRefPubMedGoogle Scholar
  78. 78.
    Ducros A, et al. The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel. N Engl J Med. 2001;345(1):17–24.CrossRefPubMedGoogle Scholar
  79. 79.
    De Fusco M, et al. Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2. Nat Genet. 2003;33(2):192–6.CrossRefPubMedGoogle Scholar
  80. 80.
    Ambrosini A, et al. Familial basilar migraine associated with a new mutation in the ATP1A2 gene. Neurology. 2005;65(11):1826–8.CrossRefPubMedGoogle Scholar
  81. 81.
    Jurkat-Rott K, et al. Variability of familial hemiplegic migraine with novel A1A2 Na+/K+-ATPase variants. Neurology. 2004;62(10):1857–61.CrossRefPubMedGoogle Scholar
  82. 82.
    Dichgans M, et al. Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine. Lancet. 2005;366(9483):371–7.CrossRefPubMedGoogle Scholar
  83. 83.
    Thomsen LL, et al. Screen for CACNA1A and ATP1A2 mutations in sporadic hemiplegic migraine patients. Cephalalgia. 2008;28(9):914–21.CrossRefPubMedGoogle Scholar

Copyright information

© Springer International Publishing AG, part of Springer Nature 2019

Authors and Affiliations

  • Benjamin J. Saunders
    • 1
  • Iryna S. Aberkorn
    • 2
  • Barbara L. Nye
    • 2
  1. 1.Commonwealth of MassachusettsBostonUSA
  2. 2.Dartmouth-Hitchcock Medical CenterLebanonUSA

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