CA LÂM SÀNG 19

Major takeaway
CPAP is the leading therapy for obstructive sleep apnea. It opens and prevents the collapse of the pharynx, preventing episodes of shallow or paused breathing.

Main explanation
After advising weight loss, treatment for obstructive sleep apnea typically follows a regimen of continuous positive airway pressure (CPAP). Obstructive sleep apnea is characterized by repetitive episodes of shallow or paused breathing during sleep. This is caused by complete or partial obstruction of the upper airway. Muscle body tone relaxes during sleep, and because the walls of the pharynx are composed of soft tissue, the throat airway is collapsable. Fat deposition in the upper airway lumen increases the collapsability of the pharynx; for this reason, obesity is the largest risk factor for obstructive sleep apnea.

Patients with obesity and obstructive sleep apnea should be first advised to lose weight. Afterwards, CPAP during sleep is the most effective form of treatment for obstructive sleep apnea. Utilizing CPAP during sleep inputs a positive pressure to inflate the airway. CPAP can also alleviate other symptoms associated with obstructive sleep apnea. For example, it can decrease blood pressure and probability of cardiovascular or cerebrovascularevents. A dental device is an alternative albeit typically less effective treatment for obstructive sleep apnea.

A Holter monitor is a portable device that records the heart rhythm continuously for 24 hours or longer. This may be useful in the diagnostic process, but the patient is already diagnosed and being treated for obstructive sleep apnea. Additionally, his condition primarily respiratory, not cardiovascular.

Nocturnal pulse oximetry involves monitoring the oxygen saturation and heart rate during sleep. This is a screening test for patients with signs of sleep apnea. Because this patient has already been diagnosed with and is being treated for obstructive sleep apnea, this step is unnecessary.

Propanolol is a β-blocker used to treat a number of cardiovascular conditions including hypertension, tachycardia, and angina pectoris. While this could alleviate the patient’s currently elevated blood pressure, it is more important to treat this patient for the reversible etiology of his hypertension prior to directly treating the symptom.

A dental device such as a tongue retaining device can treat mild-to-moderate obstructive sleep apnea by moving the jaw and tongue forward, giving more space for pharyngeal airflow. However, continuous positive airway pressure (CPAP) is overall more effective, particularly considering that the patient has severe obesity.

Decreased serum bicarbonate is often associated with renal tubular acidosis, caused by the kidney unable to excrete daily acid loadnormally.

An increase in serum calcium levels is often asymptomatic, but depending on the level, can cause symptoms from nephrocalcinosisand acute renal failure. It is often associated with malignant cancers, Paget disease, and hyperparathyroidism.

In bulimia nervosa, self-induced vomiting is a common way to compensate binge-eating episodes in order to prevent weight gain. Induced vomiting will result in a loss of fluid and electrolytes, and can lead to hypochloremia, not hyperchloremia.

Major takeaway
Bulimia nervosa is marked by binge-eating, followed by compensatory behavior to prevent weight gain. Most commonly, patients will self-induce vomiting, which can lead to hypokalemiaand hypochloremia.
Main explanation
Bulimia nervosa is an eating disorder characterized by episodes of uncontrolled binge eating, coupled with compensatory behaviors – such as self-induced vomiting, inappropriate use of laxatives and enemas, or vigorous exercise – to prevent weight gain. In contrast to anorexia nervosa, where patients do not desire to eat, patients with bulimia nervosa often have a normal BMI. It is commonly characterized by hypotension, tachycardia, and dry skin from the fluid and electrolyte loss. Common medical symptoms include abdominal pain, irregular menses, and fatigue.

Patients with bulimia nervosa can purge in various ways including laxative and diuretic abuse, however vomiting is the most common practice – resulting in hypokalemic, hypochloremic metabolic alkalosis. Classical signs of self-induced vomiting included eroded teeth, inflammation of the esophagus, and calluses on knuckles (Russell sign).

Hyponatremia is the most common electrolyte imbalance in hospitalized patients, characterized by a serum sodium level under 135 meq/L. It can cause nausea, vomiting, headaches, and seizures.

Attention deficit/hyperactivity disorder (ADHD) is characterized by inattentiveness, hyperactivity, or both. Patients with ADHD will be able to socialize normally but may have difficulty following instruction or be easily distracted. This patient does not exhibit any of these symptoms.

Major takeaway
Autism spectrum disorder without intellectual or language impairments (formerly known as Asperger syndrome), is characterized by difficulty socializing, normal intelligence, and no language deficits. Patients often come to the office at an early age because they appear disinterested and detached from others.
Main explanation
Autism spectrum disorder without intellectual or language impairments (formerly known as Asperger syndrome), is characterized by impairments in social interaction and restricted or stereotyped interests without deficits in language or cognitive development. It is a common condition that is more common in males. Patients are described as detached, disinterested, or professorial. There is difficulty interacting with and bonding with others. They are often described as experts in a specific interest, such as the history of a sport or the Latin alphabet. However, their language and communication skills are normal without delays in attaining milestones. Treatment is supportive with behavior modification therapy.

In this vignette, the patient came to the office because of difficulty with socialization while still attaining language milestones at normal ages. The presence or absence of normal language skills was previously the main differentiating factor between Asperger’s and autism. Now the symptoms of Asperger’s would be classified as autism spectrum disorder without intellectual or language impairments in the DSM-V.

Childhood disintegrative disorder shows normal development for at least two years before losing previously acquired language, social and motor skills and lose of bowel and bladder control before 10 years of age. This patient has deficits only in social skills and never lost previously attained milestones.

Fetal alcohol syndrome is a differential diagnosis for autistic spectrum disorder. It is characterized by an abnormal facial appearance (specifically a smooth philtrum, thin vermillion border, and small palpebral fissures), short height, low body weight, small head size, poor coordination, low intelligence, and behavior problems.

Rett disorder is a rare cause of language and motor impairments seen almost exclusively in females. Patients have normal development until 5 months of age before losing previously achieved milestones and exhibiting stereotyped hand movements, such as hand wringing. This patient shows social impairment and no motor or language symptoms.

Major takeaway
When working up a patient for hypothyroidism, the first step is to obtain TSH and free T4laboratory values. The serum TSH would be high, and the free T4 will help determine the degree of hypothyroidism.

Main explanation
Patients with hypothyroidism can have with a variety of symptoms. These include constipation, fatigue, muscle cramps/weakness, hair loss, cold intolerance, menstrual changes, and dry skin. Patients can also have diastolic hypertension, as this patient does.

When working up a patient for hypothyroidism, the first step is to obtain TSH and free T4 laboratory values. If the serum TSH is high (as would be expected in this case), the free T4will help determine the degree of hypothyroidism. If the serum TSH is low, it is recommended to check free T4 as well as T3. A patient may have primary hypothyroidism (i.e. the thyroid gland itself is either missing or not working), which is characterized by a high TSH and a low free T4. In the case of subclinical hypothyroidism, the TSH is elevated, but free T4 is normal. In the case of secondary hypothyroidism (such as would occur with pituitary failure), free T4 is low and TSH is not appropriately increased.

It is not recommended to use T3 levels, as these levels are more likely be elevated, even in the presence of hypothyroidism, or decreased in critically ill patients without thyroid disease.

hCG is produced by the embryo following implantation. Although pregnancy is a cause of primary amenorrhea, this patient has other symptoms suggesting a thyroid disorder.

Anti-thyroid antibodies should only be ordered in the setting of sub-clinical hypothyroidism and after evaluation of a TSH and free T4.

Free T4 values should be obtained in conjunction with TSH values. If TSH is high, free T4 will help determine the degree of hypothyroidism present.

Benztropine is an anticholinergic medication that is generally used with the typical antipsychotics (such as haloperidol) for the prophylaxis of extrapyramidal symptoms. It has no antipsychotic properties.

Diazepam is a long-acting benzodiazepine that would be appropriate in the management of an anxiety disorder. Shorter-acting benzodiazepines, such as lorazepam, are often used adjunctively in psychotic individuals for acute agitation.

Fluoxetine (Prozac, Sarafem) is an antidepressant used in the treatment of a number of depressive illnesses. It acts as a selective serotonin reuptake inhibitor (SSRI).

Lithium is used in bipolar disorder. Although individuals with bipolar disorder may have delusions, the nature of this patient’s paranoid delusions is suggestive of schizophrenia. In such individuals, antipsychotic medications like risperidone are often given as well, because lithium takes approximately 10 days to have a beneficial effect.

Major takeaway
Risperidone is an atypical antipsychotic commonly used to treat schizophrenia, a psychotic disorder characterized by hallucinations, delusions, and abnormal social functioning.
Main explanation
This scenario illustrates an individual with a primary psychotic disorder, likely schizophrenia.

The Schneiderian First-Rank Symptoms of schizophrenia include:
• Auditory hallucinations
o Third person
o Running commentary
o Hearing thoughts spoken aloud
• Delusional perception
• Passivity phenomena
o Somatic passivity
o Actions influenced by external agents
o Thought withdrawal
o Thought insertion
o Thought broadcast
Risperidone is an atypical antipsychotic commonly used to treat schizophrenia. It is notably useful in treating the patient’s present symptoms of paranoid delusions and auditory hallucinations. Common side effects are weight gain, postural hypotension, drowsiness and extra pyramidal side effects.

Features of narcissistic personality disorder include: a grandiose sense ofself-importance, preoccupation with success, senseofentitlement, arrogance, and a lack of empathy with haughty attitude. This patient believes he is doing a better job than his co-workers but he is not arrogant toward his wife and believes he is letting her down.

Major takeaway
Patients with paranoid personality disorder are suspicious of others, display pervasive distrust, and often interpret motives as malicious. They tend to read hidden threatening meanings into remarks and react angrily to perceived insults.The paranoid thoughts of these patients are merely suspected and not believed with certainty.
Main explanation
This patient most likely has a paranoid personality disorder (PPD). This is a cluster A personality disorder, where patients are perceived as being weird and eccentric. Patients with PPD are suspicious of others, display pervasive distrust, and often interpret motives as malicious. The symptom onset is gradual and typically begins during childhood with pervasive paranoia. In PPD, the paranoid thought is merely suspected, whereas, in a delusional disorder the paranoid thought is believed with utter certainty. Psychotherapy is the primary form of treatment for patients with PPD.

These patients may believe others are exploiting or deceiving them, friends and associates are untrustworthy, information confided to others will be used maliciously, there is a hidden meaning in remarks or events that others perceive as benign, and that their spouse or partneris unfaithful.

This 35-year-old man expresses many of these beliefs to his physician. Patients with this disorder usually have a chronic course causing lifelong marital and job-related problems.

Patients with paranoid schizophrenia have fixed delusions and exhibit psychotic symptoms. According to DSM-V ≥2 of the following must be present for at least six months for diagnosis: delusions, hallucinations, disorganized speech, grossly disorganized or catatonic behavior, and negative symptoms. This patient does not fit DSM-V criteria.

Patients with schizoid personality disorder will be detached from others and have little desire for close relationships. These patients take pleasure in few activities, have few (if any) friends, choose solitary activities, and prefer to be alone. People with this disorder are socially withdrawn and would not likely be married.

Patients with schizotypal personality disorder are often perceived as strange and eccentric and are inept at socializing. Schizotypalis often considered the premorbidpersonality of schizophrenia and patients have ideas of reference, odd beliefs, speech, appearance, beliefs in paranormal phenomenon, and suspiciousness.

Since the patient has morning erections, it is more likely that the erectile dysfunction is due to a non-organic cause. Bupropion is an antidepressive often used in alternative to serotonin-selective reuptake inhibitors (SSRIs) due to adverse effects, such as sexual dysfunction.

Since the patient has morning erections, it is more likely that the erectile dysfunction is psychogenic. Busiprone is used to treat anxiety.

Penile injection therapy with aloprostadil is considered in the second-line therapy for erectile dysfunction when phosphodiesterase-5 inhibitors are proven ineffective.

Major takeaway
Psychogenic erectile dysfunction is seen in men who have trouble with developing or maintaining an erection during sexual activity. This can be due to performance anxiety, issues with their sexual partner, or other life stressor. In this case, psychotherapy is suggested.

Main explanation
Erectile dysfunction, or impotence, is the inability to develop or maintain an erection during sexual activity. There are many causes of erectile dysfunction, but it can be classified as psychological or physiological. Sexually competent men who had no sexual problems until sexual activities most likely have psychogenic erectile dysfunction. This condition can be due to performance anxiety, issues with the current sexual partner, or some other stressor. The patient’s erectile dysfunction is likely of psychogenic origin due to his marital stresses. Furthermore, the presence of morning erections supports a non-organic cause. The best step in management is one that addresses those stressors directly via psychotherapy.

Phosphodiesterase-5 inhibitors, such as taladafil, are used in the first-line therapy of erectile dysfunction. However, because the patient has erections in the morning, it is more likely that his erectile dysfunction is psychological and should be treated with psychotherapy.

Ulceration at the cervix strongly suggests squamous cell carcinoma. Urgent referral to a gynaecologist is indicated for any patient with this finding.

Major takeaway
Polycystic ovarian disease affects about 5-10% of women of reproductive age and clinically presents with oligomenorrhea, obesity, and hirsutism.

Main explanation
The patient most likely has polycystic ovarian disease (PCOS).

PCOS is a condition that affects about 5-10% of women of reproductive age. It is the most common endocrine condition in this age group. It is characterized by anovulation, oligomenorrhea, obesity and hirsutism. Multiple follicular cysts may be seen in the ovaries on ultrasound however this is not seen in every patient.

Patients with PCOS have increased risk of infertility, cardiovascular disease, diabetes, sleep apnoea, and cosmetic issues such as hirsutism and acne.

Treatment may be aimed at several aspects of the disease but dietary modification and regular physical activity is recommended for all patients. Treatment options include:
• infertility – weight loss and clomiphene
• oligomenorrhoea – combined oral contraceptive (COCP)
• insulin resistance – metformin
• hirsutism secondary to hyperandrogenism – spironolactone or COCP

Microabscesses and destruction of glandular epithelium at the endometrium are consistent with acute endometritis. Endometritiscauses abdominal distention, vaginal bleeding and vaginal discharge.

Flat, spiked and inverted condyloma and warty atypia at the cervix
Condyloma at the cervix is most likely caused by human papilloma virus (HPV). Most cases of condyloma usually do not cause any symptoms.

Sessile masses projecting into the endometrial cavity is descriptive of endometrial polyps. Endometrial polyps can either be asymptomatic or cause irregular menstrual bleeding.

Multiple endocrine neoplasia type 2A is characterized by the development of pheochromocytoma, thyroid medullary carcinoma, and parathyroid cancer. It is also associated with RET oncogene mutations.

Major takeaway
Multiple endocrine neoplasia type 2, has the subtypes type A and type B (MEN 2A and MEN 2B). It is an autosomal dominant familial cancer syndrome that is caused by mutations in the RET oncogene in cells of neural crest origin, which codes for a receptor tyrosine kinase.
Main explanation
Multiple endocrine neoplasia type 2, has the subtypes type A and type B (MEN 2A and MEN 2B). It is an autosomal dominant familial cancer syndrome that is caused by mutations in the RET oncogene in cells of neural crest origin, which codes for a receptor tyrosine kinase. While both subtypes of MEN 2 are associated with the development of medullary thyroid carcinomaand pheochromocytoma, they differ in the third type of neoplasia that develops. MEN 2A is associated with parathyroid tumors (and thus may present with signs of hypercalcemia due to increased parathyroid hormone production) and MEN 2B is associated with mucosal neuromadevelopment (such as oral ganglioneuromatosis) and a marfanoid body habitus.

A 3-year-old boy comes to the office because of total body swelling for a week. During this time he has been feeling tired, and not acting his usual self. His mother says that he seems to be swelling all over. He has been gaining weight, urinating less than usual, and the urine appears frothy. A urinalysis shows 4+ proteinuria. Which of the following is most likely the most appropriate step in treatment?

Neurofibromatosis type 1 is an autosomal dominant condition characterized by skin cafe-au-lait spots, Lisch nodules on the eyes, cutaneous neurofibromas, optic gliomas, and pheochromocytomas. It is not associated with marfanoid body habitus.

Neurofibromatosis type 2 is an autosomal dominant condition characterized by the development of bilateral acoustic schwannomas, ependymomas, meningiomas, and juvenile cataracts.

Von Hippel-Lindau disease is characterized by the development of hemangioblastomas in several tissues, including the retina, cerebellum, brain stem, and spine. Patients also develop pheochromocytomas, renal cell carcinomas, and angiomatosis of the mucosa, skin, and organs. It is not associated with marfanoid body habitus.

Acyclovir is an antiviral used to treat the human herpes viruses, usually HSV-1 and HSV-2. It has no role in the treatment of minimal change disease.

The child may be at risk for infections, but antibiotics will not treat minimal change disease. Renal infection would result in flank pain, fevers, and hematuria.

Major takeaway
Minimal change disease is the most common cause of nephrotic syndrome in children. Treatment is with corticosteroids, and >95% of children achieve complete remission.

Main explanation
70% of children presenting with minimal change disease (MCD) have symptoms before age 5. Typically, patients have a relapsing-remitting course. Patients have heavy proteinuria. Renal biopsy is not usually required, but will show minimal changes on light microscopy, no findings with immunofluorescent microscopy, and podocyte effacement on electron microscopy.

MCD is the most common cause of nephrotic syndrome in children. Almost all cases are idiopathic but 10-20% may have a precipitant cause: drugs (i.e. NSAIDs, rifampin, etc.), toxins (mercury, bee stings), infections (mono, HIV), or tumor.

Symptoms of MCD are the result of the accompanying nephrotic syndrome: peripheral swelling, abdominal pain from ascites, diarrhea secondary to bowel edema, pain from scrotalswelling, shortness of breath from pleural effusions, and oliguria from decreased blood flow to the kidneys. Loss of immunoglobulins can lead to increased susceptibility to infection. And patients may have an increased risk of thromboembolic events, from the loss of the anti-coagulation factors, Protein C and Protein S

The first line therapy for MCD is corticosteroids. Children will likely experience a rapid response and complete remission with steroid therapy (>95%). The majority of steroid-sensitive children will experience relapses, usually following an infection, but will remain steroid-responsive.

The swelling in minimal change is most likely secondary to third-spacing from a loss of loss of intravascular proteins and resultant loss of oncotic pressure. This child may be intravascularly depleted. Fluid repletion would not treat the cause of the disease and would not decrease the proteinuria.

The end-stage of minimal change disease may lead to the need for a kidney transplant, but at this first presentation, it is unlikely he is in renal failure.

Although a postulated circulating factor is responsible for the development of the disease, plasmapheresis is not used for treatment of minimal change disease.