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422 Laboratory Medicine in Psychiatry and Behavioral Science
Hepatitis, viral (continued)
Laboratory testing
(continued)
The CDC recommends universal screening for HCV for the following
populations:
• Screening at least once in a lifetime forall adultsage ≥18 years,
except in settings where the prevalence of HCV infection (HCV
RNA positivity) is <0.1%
• Screening forall pregnant females during each pregnancy, except in
settings where the prevalence of HCV infection (HCV RNA positiv
-
ity) is <0.1%
The CDC recommends one-time HCV testing regardless of age or
setting prevalence among people with recognized conditions or
exposures:
• People with HIV
• People who have ever injected drugs and shared needles, syringes,
or other drug preparation equipment, including those who injected
once or a few times many years ago
• People with selected medical conditions, including people who
have ever received maintenance hemodialysis and people with
persistently abnormal ALT levels
• Prior recipients of transfusions or organ transplants, including
people who received clotting factor concentrates produced before
1987, people who received a transfusion of blood or blood com
-
ponents before July 1992, people who received an organ trans-
plant before July 1992, and people who were notified that they
received blood from a donor who later tested positive for HCV
infection
• Health care, emergency medical, and public safety personnel after
needle sticks, sharps, or mucosal exposures to HCV-positive blood
• Children born to mothers with HCV infection
The CDC recommends routine periodic testing for people with ongoing
risk factors, while risk factors persist:
• People who currently inject drugs and share needles, syringes, or
other drug preparation equipment
• People with selected medical conditions, including people who
have ever received maintenance hemodialysis
Any person who requests HCV testing should receive it, regardless of
disclosure of risk, because many persons may be reluctant to disclose
stigmatizing risks.
Abutaleb A, Kottilil S: Hepatitis A: epidemiology, natural history, unusual clinical manifestations, and
prevention.Gastroenterol Clin North Am 49(2):191–199, 2020
Almeida PH, Matielo CEL, Curvelo LA, et al: Update on the management and treatment of viral hepati-
tis. World J Gastroenterol 27(23):3249–3261, 2021
American Association for Clinical Chemistry: Lab Tests Online. Available at: https://www.testing.com.
Accessed July 2021.
Bart G, Piccolo P, Zhang L, et al: Markers for hepatitis A, B and C in methadone maintained patients: an
unexpectedly high co-infection with silent hepatitis B. Addiction 103:681–686, 2008
Castaneda D, Gonzalez AJ, Alomari M, et al: From hepatitis A to E: a critical review of viral hepati-
tis. World J Gastroenterol 27(16):1691–1715, 2021
Choi JW, Son HJ, Lee SS, et al: Acute hepatitis E virus superinfection increases mortality in patients with
cirrhosis. BMC Infect Dis 22(1):62, 2022
Centers for Disease Control and Prevention: Viral Hepatitis: Testing Recommendations for Hepatitis C
Virus Infection. Atlanta, GA, Centers for Disease Control and Prevention, 2020. Available at: https://
www.cdc.gov/hepatitis/hcv/guidelinesc.htm. Accessed February 2022.
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423 Diseases and Conditions
Hepatitis, viral (continued)
Centers for Disease Control and Prevention: Viral Hepatitis: Hepatitis B Questions and Answers for
Health Professionals. Atlanta, GA, Centers for Disease Control and Prevention, 2022. Available at:
https://www.cdc.gov/hepatitis/hbv/hbvfaq.htm
. Accessed February 2022.
Fontana RJ, Engle RE, Gottfried M, et al: Role of hepatitis E virus infection in North American patients
with severe acute liver injury. Clin Transl Gastroenterol 11(11):e00273, 2020
Jha AK, Kumar G, Dayal VM, et al: Neurological manifestations of hepatitis E virus infection: an over-
view. World J Gastroenterol 27(18):2090–2104, 2021
Langan RC, Goodbred AJ: Hepatitis A. Am Fam Physician 104(4):368–374, 2021
Linder KA, Malani PN: Hepatitis A.JAMA 318(23):2393, 2017
https://t.me/med1917
424 Laboratory Medicine in Psychiatry and Behavioral Science
HIV and AIDS
Clinical findings AIDS continues to be a global public health problem with no cure, but
now there is effective prevention, diagnosis, and treatment that enables
affected people to lead long and healthy lives. In the United States,
about 1.2 million people live with HIV, and ~13% of them are not aware
of this fact and need testing. New cases disproportionately affect racial
and ethnic minorities and gay, bisexual, and other men who have sex
with men. Psychiatrists need to be aware of the rate of HIV infection in
their catchment areas and that homeless and drug-abusing populations
have greatly increased risk. Because patients with chronic mental ill-
ness may use their mental health professionals as primary care provid-
ers, becoming knowledgeable about testing and follow-up in these
cases is essential for these providers.
Most HIV infections in the United States are HIV-1; HIV-2 is endemic
to West Africa. With infection, the virus localizes to lymphoid tissues,
infecting CD4+ helper cells. An acute retroviral syndrome typically
occurs within 2–4 weeks of infection, although some patients are
asymptomatic during this phase.
Signs and symptoms of the acute retroviral syndrome include head-
ache, fatigue, sor e throat, nausea, vomiting and/or diarrhea, night
sweats and chills, myalgias and arthralgias, fever, lymphadenopathy,
skin rash (red, non-pruritic, usually on torso), and ulcers (mouth,
esophagus, anus, genitals). The symptoms of the acute syndrome
resolve within days to weeks. When viremia clears, the patient enters a
latent stage without clinical symptoms that can last a decade or longer.
With progression, the number of functioning CD4+ cells declines to
<200/mm
3
, the threshold for diagnosing AIDS. This number is no lon-
ger used to decide when to start antiretroviral treatment because treat-
ment is initiated as soon as HIV infection is confirmed. It is at this point,
however, that opportunistic infections supervene. Malignancies such as
non-Hodgkin’s lymphoma, invasive cervical cancer, lung cancer, or Ka
-
posi sarcoma can develop.
Over time, HIV-associated neurocognitive disorder, HIV-associated
distal sensory polyneuropathy, myocarditis, and chronic metabolic de-
rangements (impaired glucose tolerance, dyslipidemia, lipodystrophy)
can be seen.
COVID-19 resources are available for individuals living with HIV. In
general, the same precautions against infection are recommended, and
vaccines are known to be safe. Specific vaccine recommendations can
be found at www.cdc.gov/hiv/basics/covid-19.html.
Laboratory testing HIV testing is recommended as follows:
• At least once for all patients ages 13–64 years as part of routine
medical care
• Yearly for those at higher risk (see below)
• Every 3–6 months for sexually active homosexual and bisexual
males
• Routinely for prenatal screening
Factors that increase risk include the following:
• Having vaginal or anal sex with someone who is HIV positive or
whose HIV status is unknown
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425 Diseases and Conditions
HIV and AIDS (continued)
Laboratory testing
(continued)
• Injecting drugs using nonsterile needles, syringes, or other drug
equipment
• Exchanging sex for money or drugs
• Having a sexually transmitted disease such as syphilis
• Having hepatitis or tuberculosis
• Having sex with anyone who has any of the above risk factors
Three types of tests are used to diagnose HIV:
• Antibody tests—use blood or oral fluid. Most rapid tests and home
use tests are of this type.
• Antigen/Antibody tests—detect parts of the virus and body’s re-
sponse to the virus
• Nucleic acid tests—detect HIV virus in blood
Initial testing uses either an antibody test or antigen/antibody test. Nu-
cleic acid tests are costly and are not used for screening except for high-
risk exposure or possible exposure with early HIV symptoms. If the
initial test is positive, a follow-up test is conducted. A second positive
test confirms HIV.
AIDS is diagnosed when the CD4+ cell count is <200/mm
3
. Treatment
is monitored using quantitative viral load, CD4+ count, and drug resis
-
tance testing (genotyping). See HIV Testing in the Laboratory Tests
chapter for further information.
Patient counseling is mandatory for HIV testing. The following infor-
mation should be provided to patients, whether for office- or lab-based
testing: information about the HIV test, its benefits and consequences,
ways HIV is transmitted and how it can be prevented, meaning of test
results, and where to obtain further information and other services, in
-
cluding treatment. Those tested with rapid tests should be informed
that results will be available during the visit and that confirmatory test-
ing will be needed if the rapid test is positive. In this case, a return visit
should be scheduled to discuss confirmatory test results.
Centers for Disease Control and Prevention: Types of HIV tests. Atlanta, GA, Centers for Disease Control
and Prevention, 2021. Available at: https://www.cdc.gov/hiv/basics/hiv-testing/
test-types.html. Accessed July 2021.
Centers for Disease Control and Prevention: HIV and COVID-19 basics. Atlanta, GA, Centers for Disease
Control and Prevention, 2022.
Available at: https://www.cdc.gov/hiv/basics/covid-19.html. Ac
-
cessed February 2022.
HIV.gov: U.S. statistics. Available at: https://www.hiv.gov/hiv-basics/overview/data-and-trends/
statistics. Accessed July 2021.
National Institutes of Health: HIV overview: HIV testing. Bethesda, MD, National Institutes of Health,
2021. Available at:
https://hivinfo.nih.gov/understanding-hiv/fact-sheets/hiv-testing. Accessed
July 2021.
Ntusi NAB: HIV and myocarditis. Curr Opin HIV AIDS 12(6):561–565, 2017
Parashar S, Collins AB, Montaner JS, et al: Reducing rates of preventable HIV/AIDS-associated mortality
among people living with HIV who inject drugs. Curr Opin HIV AIDS 11(5):507–513, 2016
Post JJ, Benfield T, Woolley I: When pandemics collide: measuring the impact of coronavirus disease 2019
on people with HIV. AIDS 36(3):473–474, 2022
Sigel K, Makinson A, Thaler J. Lung cancer in persons with HIV.Curr Opin HIV AIDS 12(1):31–38, 2017
Thakur KT, Boubour A, Saylor D, et al: Global HIV neurology: a comprehensive review. AIDS 33(2):163–
184, 2019
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426 Laboratory Medicine in Psychiatry and Behavioral Science
Huntington’s disease (HD)
Clinical findings HD is a rare hereditary brain disorder that begins with abnormal early
brain development and is characterized by inexorable neural degener
-
ation that usually becomes clinically apparent around age 40 years.
Motor, cognitive, and psychiatric symptoms are then progressive over
subsequent decades. Both sexes are affected equally.
Typically, patients present with chorea, with depression present in al-
most half of patients in the first year. Personality changes are seen in
two-thirds of patients within 2–3 years. Psychosis then occurs in about
10% of patients within 3–5 years. Dementia ultimately develops in al
-
most all patients after about 5 years. Structural and functional brain
changes visible on neuroimaging may predate symptoms by more than
a decade, with the earliest changes seen in the striatum. Over time, the
neocortex is affected, beginning anteriorly and moving to occipital ar
-
eas i
n later stages.
HD is caused by a mutation in the huntingtin gene (HTT), which codes
for a protein with a critical role in prenatal brain development. One
area of the gene contains a segment of DNA known as a CAG (cyto
-
sine-adenine-guanine) trinucleotide repeat that appears several times
in a row. A normal number of CAG repeats is 10–26. When more re-
peats are present, the CAG segment becomes unusually long. This
elongated protein is processed into smaller fragments that are neuro
-
toxic, resulting in dysfunction and death of neurons. The more
repeats,
the earlier the onset of clinical HD, although age at onset is modified
by environmental factors and variants
elsewhere in the genome. As
the
mutation is passed to the next generation, the size of the CAG repeat
segment often increases, a phenomenon known as “anticipation.” The
clinical effect of anticipation is that the disease presents earlier in life
and in many cases is also more severe.
Specific neuropsychiatric symptoms of HD include irritability, depres-
sion, psychosis, personality changes, apathy, and cognitive impair-
ment. Depression and irritability can precede motor symptoms by
many years, whereas apathy and cognitive impairment tend to occur
after motor symptoms. Suicidal ideation, suicide attempt, and com
-
pleted suicide are more common in HD patients than in the general
population. In some patients, involuntary movements may be subtle
until later stages of the disease. Motor abnormalities include chorea,
dystonia, ataxia, parkinsonism, oculomotor problems, dysarthria, dys
-
phagia, incoordination, and clumsiness. Seizures can be seen.
Laboratory testing In a patient with suggestive clinical symptoms, testing of HTT can be
performed to show the number of CAG repeats:
• 10–26 repeats—normal
• 27–35 repeats—will not develop HD, but children are at risk be-
cause CAG repeat size may increase into HD range as gene is trans-
mitted from parent to child
• 36–39 repeats—may or may not develop HD
• 40 or more repeats—HD will develop
• 60 or more repeats—early onset HD
Structural imaging shows significant volume loss in gray and white
matter, particularly in subcortical areas. Functional imaging shows al-
tered functional connectivity between regions.
https://t.me/med1917
427 Diseases and Conditions
Huntington’s disease (HD) (continued)
American Psychiatric Association: Diagnostic and Statistical Manual of Mental Disorders, 5th Edition,
Text Revision. Washington, DC, American Psychiatric Association, 2022
Ghosh R, Tabrizi SJ: Clinical features of Huntington’s disease. Adv Exp Med Biol 1049:1–28, 2018
Gregory S, Scahill RI: Functional magnetic resonance imaging in Huntington’s disease.Int Rev Neurobiol
142:381–408, 2018
Johnson EB, Gregory S: Huntington’s disease: brain imaging in Huntington’s disease.Prog Mol Biol
Transl Sci 165:321–369, 2019
Johnson EB, Ziegler G, Penny W, et al: Dynamics of cortical degeneration over a decade in Huntington’s
disease.Biol Psychiatry 89(8):807–816, 2021 [published correction appears in Biol Psychiatry 90(4):275
and 90(7):505, 2021]
Kachian ZR, Cohen-Zimerman S, Bega D, et al: Suicidal ideation and behavior in Huntington’s disease:
systematic review and recommendations. J Affect Disord 250:319–329, 2019
McAllister B, Gusella JF, Landwehrmeyer GB, et al: Timing and impact of psychiatric, cognitive, and mo-
tor abnormalities in Huntington disease.Neurology 96(19):e2395–e2406, 2021
McColgan P, Tabrizi SJ: Huntington’s disease: a clinical review. Eur J Neurol 25(1):24–34, 2018
van der Plas E, Langbehn DR, Conrad AL, et al: Abnormal brain development in child and adolescent
carriers of mutant huntingtin. Neurology 93(10):e1021–e1030, 2019
https://t.me/med1917
428 Laboratory Medicine in Psychiatry and Behavioral Science
Hydrocephalus
Clinical findings Hydrocephalus refers to the abnormal accumulation of CSF in the ven-
tricles of the brain, caused by obstruction of the flow of CSF, problems
with absorption of CSF into the venous system, or overproduction. Sev
-
eral systems of hydrocephalus classification exist, one of which divides
this condition into two types, based on anatomy:
• Communicating hydrocephalus, in which CSF flow is blocked after it
lea ve s t he ven tr ic le s. Th is typ e i s a ls o c al led no no bs tr uc ti ve b ec au se
there is still CSF flow within the ventricular system.
• Noncommunicating hydrocephalus, in which CSF flow is blocked
within the ventricular system, usually in one of the narrow connect
-
ing passages. This type is also called obstructive hydrocephalus.
Communicating hydrocephalus has two subtypes: NPH and hydro-
cephalus ex vacuo. NPH, which typically affects individuals age
50 years or older, develops slowly, with gradual buildup of CSF that
enlarges the ventricles and exerts pressure on adjacent brain structures.
NPH symptoms that result include the classic triad of urinary
incontinence, memory problems, and gait unsteadiness. Although NPH
can be a consequence of stroke, subarachnoid hemorrhage, tumor, TBI,
meningitis, or brain surgery, in most cases it is idiopathic. In hydroceph
-
alus ex vacuo, the ventricles enlarge to fill space created by the loss of
brain tissue from conditions such as Alzheimer’s disease, multiple
strokes, leukodystrophies, multiple sclerosis, and Huntington’s disease.
Signs and symptoms of hydrocephalus typically include the following:
• In non-elderly adults: headache, visual problems, nausea/vomit-
ing, incoordination, balance problems, decline in school or work
performance, difficulty waking up, sleepiness, irritability, personal
-
ity changes, cognitive problems, and frequent urination or loss of
bladder control.
• In elderly patients: magnetic gait (feet appear stuck to the floor),
memory impairment, motor and cognitive slowing, depression,
apathy, and urinary urgency, frequency, or incontinence. Hyperre-
flexia, extensor plantar responses,
and primitive reflexes
(grasp and
snout) may be
present.
Patients with acute hydrocephalus present in extremis with headache,
vomiting, and stupor. Papilledema may be noted. These patients are at
risk of rapid progression to coma and death. This form of hydrocepha
-
lus is usually a noncommunicating form, with complete or nearly com-
plete obstruction of CSF flow.
Laboratory testing Brain MRI can be used to evaluate size of ventricles, assess CSF flow to
identify the site of obstruction, and detect changes in the tissue sur-
rounding the lateral ventricles suggestive of transependymal CSF
extravasation. Head CT can be used only
to determine ventricular size
and detect tissue changes of extravasation.
In hydrocephalus ex vacuo, sulcal enlargement is seen in tandem with
ventricular enlargement, and changes of transependymal CSF extrava-
sation are not seen.
Lumbar puncture may be performed to check CSF pressure and to
obtain a CSF sample to identify blood and infectious causes of hydro-
cephalus.
Funduscopic examination can also identify elevated CSF pressure.
https://t.me/med1917
429 Diseases and Conditions
Hydrocephalus (continued)
Factora R, Luciano M: When to consider normal pressure hydrocephalus in the patient with gait distur-
bance. Geriatrics 63:32–37, 2008
Filis AK, Aghayev K, Vrionis FD: Cerebrospinal fluid and hydrocephalus: physiology, diagnosis, and
treatment.Cancer Control 24(1):6–8, 2017
Kameda M, Kajimoto Y, Kambara A, et al: Evaluation of the effectiveness of the tap test by combining the
use of functional gait assessment and global rating of change.Front Neurol 13:846429, 2022
Nakajima M, Yamada S, Miyajima M, et al: Guidelines for Management of Idiopathic Normal Pressure
Hydrocephalus (Third Edition): endorsed by the Japanese Society of Normal Pressure Hydrocepha
-
lus.Neurol Med Chir (Tokyo) 61(2):63–97, 2021
Said HM, Kaya D, Yavuz I, et al: A comparison of cerebrospinal fluid beta-amyloid and tau in idiopathic
normal pressure hydrocephalus and neurodegenerative dementias.Clin Interv Aging 17:467–477,
2022
Theologou M, Natsis K, Kouskouras K, et al: Cerebrospinal fluid homeostasis and hydrodynamics: a re-
view of facts and theories.Eur Neurol 85(4):313–325, 2022
Yusim A, Anbarasan D, Bernstein C, et al: Normal pressure hydrocephalus presenting as Othello syn-
drome: case presentation and review of the literature. Am J Psychiatry 165:1119–1125, 2008
https://t.me/med1917
430 Laboratory Medicine in Psychiatry and Behavioral Science
Hypercalcemia
Clinical findings Calcium, the most abundant extracellular cation in the body, has essen-
tial roles in neurotransmission, cardiac function, muscle contraction,
blood clotting, and bone formation. Only 1% of calcium is found in the
circulation, with the remainder residing in the bones and teeth. The
level of calcium is kept within a physiological range through the actions
of PTH and vitamin D. The most common causes of calcium elevation
are primary hyperparathyroidism (slight to moderate elevation) and
malignancy-associated hypercalcemia (high elevation). The latter is
seen with more advanced cancers and carries a poor prognosis.
Other causes of hypercalcemia include drugs (lithium, thiazides, exces
-
sive intake of antacids or calcium supplements, toxicity with vitamins
A or D), granulomatous disease such as sarcoidosis or coccidioidomy-
cosis, adrenal insufficiency, and chronic kidney disease. The mecha-
nism by which lithium can induce hypercalcemia is by way of primary
hyperparathyroidism.
Most patients with hypercalcemia are asymptomatic, particularly with
gradual onset of calcium elevation, and the condition is found only on
routine testing. Symptoms are not usually seen until the total calcium
level exceeds 12 mg/dL, although patients with a low albumin level
may show symptoms at a lower (uncorrected) calcium level. Free or
ionized calcium correlates more closely with symptoms, but this test is
usually only available in hospital settings. Total calcium can be cor
-
rected for low albumin as described in the Albumin entry in the Lab-
oratory Tests chapter.
Signs and symptoms associated with elevated calcium level include ir-
ritability, anxiety, depression, fatigue, lethargy, weakness, apathy, de-
creased muscle tone, muscle pain, flat deep tendon reflexes, headache,
increased thirst, increased urine output or urinary frequency, nausea,
vomiting, constipation, loss of appetite, and flank or abdominal pain
that may be colicky in nature. With more severe elevations, delirium,
cardiac toxicity (including dysrhythmias), seizures, and coma occur.
With extreme elevation, death may ensue.
Laboratory testing Because most patients with hypercalcemia are asymptomatic even
though the condition can cause end-organ damage, it is important to
identify patients who should be screened. These include those with kid-
ney stones, osteopenia/osteoporosis, or intestinal diseases and those
taking the drugs listed above.
The initial step in testing is to measure the patient’s serum calcium
level. This can be total calcium or ionized calcium; the latter is recom-
mended for patients with abnormally high or low serum protein levels,
multiple myeloma, macroglobulinemia, or thrombocytosis. The ionized
calcium test is not widely available. The total calcium value can be cor-
rected for low albumin levels using the equation noted in the Calcium
entry in the
Laboratory Tests chapter.
The reference range for total serum calcium in adults is roughly 8.6–
10.4 mg/dL.
The reference
range for ionized calcium in adults is 4.64–5.28
mg/dL.
Hypercalcemia is defined by a total serum calcium level >10.5 mg/dL.
• Mild hypercalcemia: 10.5–12 mg/dL
• Moderate hypercalcemia: 12.1–14 mg/dL
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431 Diseases and Conditions
Hypercalcemia (continued)
Laboratory testing
(continued)
• Severe hypercalcemia: >14 mg/dL
• Total calcium >13 mg/dL: cardiac toxicity, dysrhythmias, delir-
ium, seizures, and coma
• Total calcium >18 mg/dL: may be fatal
• Free (ionized) calcium >7.0 mg/dL: coma
The second step in the evaluation of hypercalcemia is to measure the
serum level of PTH. A high or inadequately suppressed PTH level in
-
dicates hyperparathyroidism as the cause.
Other laboratory tests include assay of vitamin D, total protein, albu-
min, phosphate, creatinine, and ECG. The latter may show character-
istic changes such as shortened QTc interval, widened QRS, and
prolonged PR interval.
Guise TA, Wysolmerski JJ: Cancer-associated hypercalcemia. N Engl J Med 386(15):1443–1451, 2022
Ioachimescu AG: Hypercalcemia and its multiple facets.Endocrinol Metab Clin North Am 50(4):xiii–xiv,
2021
Minisola S, Pepe J, Piemonte S, Cipriani C: The diagnosis and management of hypercalcaemia.BMJ
350:h2723, 2015
Sell J, Ramirez S,
Partin M:
Parathyroid
disorders.Am Fam Physician 105(3):289–298,
2022
Tonon CR, Silva TAAL, Pereira FWL, et al: A review of current clinical concepts in the pathophysiology,
etiology, diagnosis, and management of hypercalcemia.Med Sci Monit 28:e935821, 2022
Turner JJO: Hypercalcaemia: presentation and management.
Clin
Med (Lond) 17(3):270–273, 2017
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