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Clinical

Journal Article w/ Summary

Posted by Arianne Diaz (she) on

Article

Idiopathic Hypersomnia and Hypersomnolence Disorder: A Systematic Review of the Literature.

Sowa NA.Psychosomatics. 2016 Mar-Apr;57(2):152-64. doi: 10.1016/j.psym.2015.12.006. Epub 2015 Dec 17.PMID: 26895727 Review.

https://www.sciencedirect.com/science/article/pii/S0033318215002315?via%3Dihub

Abstract

Background: Hypersomnia is a common complaint in medical offices. Often patients are given psychiatric diagnoses, but a primary sleep disorder may be present. The new diagnosis of “hypersomnolence disorder” (HD) in the Diagnostic and Statistical Manual of Mental Disorders, fifth edition is a primary sleep disorder most similar to the diagnosis “idiopathic hypersomnia” (IH) in sleep literature and can be missed in psychiatric settings.

Methods: systematic review of the computerized databases PubMed, EMBASE, Web of Science, and Psychinfo using the search criteria “idiopathic AND (hypersomnolence OR hypersomnia),” as well as “hypersomnolence disorder was conducted.” Articles were included if they were in English and included information regarding the epidemiology, diagnosis, pathophysiology, or treatment of IH or HD. Where relevant, weighted means and 95% CI were calculated based on the number of subjects in each study.

Results: A total of 143 articles discussed IH, whereas no articles were found regarding HD. Most articles were review articles, prospective studies, or studies of pathophysiology. IH is found in approximately 0.02%–0.010% of the general population, has a mean age of onset of 21.8 years, and is associated with several somatic symptoms. Alterations in histaminergic or dopaminergic signaling may be involved in IH. Treatment with modafinil or other stimulants appears moderately effective. IH can be differentiated from psychiatric hypersomnolence by formal polysomnography.

Conclusions: IH and HD are relatively uncommon disorders, and little is known about them. However, they are distinct from psychiatric disorders and respond well to treatment once properly identified.

Type of Study: Systematic Review

Why I Selected This Article

            I chose this article because one of my patients is a 24 y/o F that presented to clinic complaining of feeling tired for three months. During my talk with her, she admitted to persistent fatigue unalleviated by rest. This articles goes into depth on one of the differentials I selected for her case, idiopathic hypersomnia. I selected this as one of my differentials for her because my preceptor brought it up as a potential diagnosis. I was not familiar with this condition and wanted to learn more about it.

Summary

            Idiopathic hypersomnia is a rare sleep disorder characterized by difficulty staying awake. Patients fall asleep unintentionally or at inappropriate times and may have trouble getting up in the morning. These symptoms are not relieved by adequate sleep and are usually accompanied by a family history of other sleep disorders such as narcolepsy. Hypersomnolence disorder and idiopathic hypersomnia are often used interchangeably but doing so is incorrect. Hypersomnolence disorder is a sleep-wake disorder in which there is  “excessive subjective sleepiness despite extended periods of sleep”. The sleep is non-restorative, and the patient has recurrent periods of sleep lapses in the day. There is also a phenomenon known as “sleep drunkenness” that is common amongst these patients. To meet criteria for hypersomnolence disorder, patients must experience symptoms for more than 3 months and have associated functional impairment because of it. Hypersomnolence disorder and idiopathic hypersomnia differ in mean sleep latency and number of sleep-onset REM periods during sleep. For diagnosis of idiopathic hypersomnia there must be a “mean sleep latency of ≤ 8 minutes and < 2 sleep-onset REM periods” during sleep. Authors conducted a systematic search using various databases and only included articles published in English containing information regarding the epidemiology, diagnosis, pathophysiology, treatment, or prognosis or idiopathic hypersomnia or hypersomnolence disorder.  145 articles met the inclusion criteria, and the findings were summarized in a table. According to this study, the mean age of onset for idiopathic hypersomnia is 21.8 years, and the mean sleep latency time was 5.86 minutes. About 30% of patients had a family history of some form of sleep disorder, and 16% experienced associated sleep paralysis. Approximately 80% of these patients experienced memory impairment, and 55% experienced difficulties with attention. Several studies suggest that neurotransmitter abnormalities may contribute to idiopathic hypersomnolence. Orexin is one of the neurotransmitters implicated in this condition as it is associated with wakefulness, arousal, and appetite. This neurotransmitter is found to be decreased in those with narcolepsy with cataplexy. There are other studies which suggest that decreased histamine and serotonin metabolites may be the cause of idiopathic hypersomnolence. It was found that patients had partial/complete improvement in symptoms when managed with modafinil and/or other stimulants such as caffeine, methylphenidate, or dextroamphetamine.  

Additional Sources: https://rarediseases.info.nih.gov/diseases/8737/idiopathic-hypersomnia

Clinical

History and Physical

Posted by Arianne Diaz (she) on

Chief Complaint: “I’ve been feeling really tired for the past 3 months”

History of Present Illness:

            H.R. is a 24 y/o F w/ PMHx asthma complaining of feeling tired for the past three months. She states that she first noticed a lack of energy two weeks after starting her new job as a patient care technician in February. Patient endorses that she initially felt “exhausted” after work but attributed her symptoms to the demanding nature of her job.  She states that her exhaustion has slowly progressed to the point that she now feels fatigued and experiences headaches once or twice a week. She describes this feeling as persistent and unrelieved by rest. Patient reports sleeping 8-9 hours, though her sleep is sometimes disturbed by her daughter waking her in the middle of the night. She states that exercising does not worsen nor improve her fatigue but that she has decreased the frequency and intensity of her workouts because of her symptoms. Patient endorses a history of heavy menses ever since the birth of her daughter but has not mentioned this to her gynecologist. She states that there are cycles where she must change her pad every 1-2 hours for the first day to day and a half. Patient also notes that her appetite has decreased slightly but denies significant weight loss or gain. She denies fever, chills, night sweats, abdominal pain, nausea, vomiting, diarrhea, constipation, pica, pagophagia, hematochezia, melena, changes in bowel habits, recent infection, dizziness, syncope, palpitations, chest pain, shortness of breath, cough, hemoptysis, blurred vision, hx similar symptoms in the past, or illicit drug use.  

Past Medical History:

Asthma diagnosed by pediatrician in Guyana 13 years ago, not currently managed by anyone

Immunization History:  

All immunizations up to date, only received one dose of COVID-19 vaccine

Preventative Medicine Screening:

Pap Smear – Scheduled for August, previous pap performed in May 2023 WNL

Dental – February 2023, normal

Ophthalmologic – September 2022, normal

Past Surgical History:

No past surgical history

Medications:

Home Medications:

  • Ventolin HFA (Albuterol) 90 mcg/actuation INH Q4-6 PRN

Denies use of herbal/OTC supplements

Allergies:

NKDA

Allergic to pollen, dust, pet hair

No known food allergies

Family History:

Mother: Age 54, alive and well, PMHx rheumatoid arthritis, hyperlipidemia

Father: Age 58, alive and well, PMHx HTN, T2DM, COPD

Brother: Age 31, alive and well, residing in Guyana, PMHx HTN

Daughter: Age 1, alive and well, no significant PMHx 

Social History:

 H.R. is a 24-year-old woman residing in Jamaica Queens with her parents and daughter. No pets.

Habits – denies use of tobacco products or illicit drugs. Engages in EtOH consumption once or twice a month when she goes out with friends

Travel – traveled to Guyana x2 months ago

Diet – patient is strictly vegetarian; typical diet consists of tea and bake for breakfast, skips lunch, okra with green banana or roti with vegetable for dinner

Exercise – goes to the gym twice a week, mainly engages in weightlifting and strength training

Sleep – 8-9 hours per night, undisturbed most nights

Safety measures – practices seatbelt safety

Sexual Hx – not currently sexually active, husband lives in Guyana. States this is the only person she is sexually active with.

Occupation – patient care technician

PCP – Dr. Loveena Singh

Pharmacy – Meeraj Pharmacy

Proxy – no assigned proxy

Review of Systems:

General: Admits fatigue, weakness. Denies fever, chills, night sweats, loss of appetite, recent weight gain or loss

Skin, hair, nails: Denies changes in texture, excessive dryness or sweating, discolorations, pigmentations, moles/rashes, pruritus, changes in hair distribution

HEENT: Admits headache. Denies vertigo, head trauma, unconsciousness, coma, use of contacts, glasses, visual disturbances, fatigue, lacrimation, photophobia, deafness, pain, discharge, tinnitus, use of hearing aids, nasal discharge, epistaxis, bleeding gums, sore tongue, sore throat, mouth ulcers, voice changes

Neck: Denies localized swelling/lumps, stiffness/decreased range of motion

Breast: Denies lumps, nipple discharge, pain

Pulmonary system: Denies dyspnea, SOB, cough, wheezing, hemoptysis, cyanosis, orthopnea, PND

Cardiovascular system: Denies chest pain, HTN, palpitations, irregular heartbeat, edema/swelling of ankles or feet, syncope, known heart murmur

Genitourinary: Denies urinary frequency, urgency, incontinence, dysuria, nocturia, oliguria, polyuria

Sexual history: Not currently sexually active. Denies Hx STI  

Menstrual and Obstetrical: Admits menorrhagia, passing minimally sized clots. Denies premenstrual sxs, dysmenorrhea, postcoital bleeding, vaginal discharge, or break-through bleeding. Date of last period: June 30, 2024, Age of menarche: 13 years old, Interval between periods: 25-28 days, Duration: 5-6 days, uses 7-9 pads during the first day to day and a half

G:1 T:1 P:0 A: L:1

Musculoskeletal System: Denies muscle/joint pain, deformity or swelling, redness, arthritis

Peripheral Vascular System: Denies intermittent claudication, coldness of trophic changes, varicose veins, or peripheral edema, color change

Hematologic System: Denies easy bruising or bleeding, lymph node enlargement, hx of clot

Endocrine System: Denies polyuria, polydipsia, polyphagia, heat or cold intolerance, goiter, hirsutism

Nervous System: Denies seizures, loss consciousness, ataxia, loss of strength, change in cognition/mental status/memory, weakness

Psychiatric:  Admits feelings of sadness. States she feels like her family is not whole because her husband lives in another country. Denies feelings of helplessness/hopelessness, lack of interest in usual activities, suicidal ideations, anxiety

Vital Signs:        

Temperature: 98.0 degrees Fahrenheit

O2 Sat: Not taken in office

Height:  63 inches

Weight: 54.5 kg

BMI:  21.3

Respiratory Rate: 16

Heart Rate: 66

Blood Pressure: 110/76 (seated, LT arm)

Physical:

General: Patient appears clean & well groomed, alert & oriented to time, place, and person. Has good posture and appears to be a reliable source of information. Appears stated age and is not in acute distress.

Hair, Head, and Face:

Hair is of average quantity and distribution. Black in color with silky texture. Head is normocephalic and atraumatic. Face is symmetrical with no signs of drooping, swelling, or trauma.

Skin and Nails:

The skin is warm and moist with good texture. Non-icteric with no swelling or signs of ecchymosis. Unable to assess fingernails, patient wearing teal acrylics.

Eye:

PERRLA. The eyes are symmetrical OU. Conjunctiva is pink, sclera is white, cornea and lens are clear.

Ear:

Symmetrical and appropriate in size. No lesions, masses, or trauma on external ears. Cerumen present AU, no foreign bodies externally AU. TM’s pearly white/intact with light reflex in good position, cone of light is present AU. No foreign bodies, discharge, effusions, perforations, or erythema AU.

Nose and Sinus:

The nose is symmetrical without masses, deformities, trauma, or discharge. Nares are patent bilaterally. Nasal mucosa pink and moist.  Anterior rhinoscopy reveals pink turbinates and clear, mucous-like discharge, no polyps noted. Nasal septum is midline without ulcerations, perforations, or deviations.

Mouth and Pharynx:

Patient is wearing red lipstick, cannot discern if lips are pale/cyanotic. There are no signs of blisters or fissuring on lips.

The buccal mucosa is pink and well hydrated.

The tongue is pink and covered in papillae with no signs or leukoplakia.

The gingiva is pink. No hyperplasia, erythema, masses, lesions, or bleeding. Non-tender to

palpation.

The hard palate is continuous, torus palatinus noted, no bleeding.

The soft palate rises with phonation.

The floor of the mouth is well vascularized, the frenulum is intact, there is no discoloration.

Oropharynx is well hydrated, there is no tonsillar adenopathy, the uvula is pink moist and midline.

Neck, Thyroid, and Lymph Nodes:

The trachea is midline without masses or scars, it is supple and non-tender to palpation. The thyroid is consistent in size and shape and non-tender to palpation. The lymph nodes are freely mobile and non-tender.  

Cardiac:

S1 and S2 are normal. No murmurs, S3, or S4 sounds on auscultation. No S2 split or friction rubs present.

Thorax and Lung:

Respirations are unlabored without use of any accessory muscles. Lung sounds are clear in all lobes bilaterally without rales, rhonchi, or wheezes.

Abdomen:

Abdomen is flat, soft, non-tender to palpation, and non-distended. No guarding or rebounding noted. No CVA tenderness appreciated.

Peripheral Neurologic Exam:

Full active/passive ROM of all extremities without rigidity or spasticity. Symmetric muscle bulk with good tone. No atrophy, tics, tremors, or fasciculation. Strength 5/5 throughout.  Gait steady with no ataxia

Mental Status Exam:

Patient is well appearing, good hygiene and neatly groomed, Aox3. Speech and language ability intact, with normal quantity, fluency, and articulation. Conversation progresses logically. Insight, judgement, cognition, memory, and attention intact.

Peripheral Vascular Exam:

The extremities are normal in color, size and temperature. No clubbing, cyanosis or edema noted bilaterally. No stasis changes or ulcerations noted. No calf tenderness bilaterally. No palpable cords or varicose veins bilaterally.

MSK:

Non-TTP in upper and lower extremities. No soft tissue swelling, erythema, ecchymosis, atrophy, or deformities in bilateral upper and lower extremities. No crepitus noted throughout. FROM of LE and UE.  

DDx:

  1. Iron Deficiency Anemia
  2. Vitamin B12 or Vitamin D Deficiency
  3. Depression
  4. Hypothyroidism
  5. Idiopathic Hypersomnia

Assessment:

            H.R. is a 24 y/o F w/ PMHx asthma complaining of feeling tired for the past three months. She endorses a history of heavy menses ever since the birth of her daughter and states that her energy began to decline shortly after she began her new job as a PCT. Her physical exam is unremarkable, warranting further work-up.

Plan:

  • Draw basic labs: CBC, CMP, A1C, TSH, Iron Studies, and Vitamin B12+folate/Vitamin D levels
  • Order FOBT to rule out blood loss coming from digestive tract
  • Provide referral to gynecology to evaluation of heavy menses
  • Offer mental health services
  • Recommend OTC Tylenol for HA relief
  • Educate patient on sleep hygiene
  • Encourage patient to continue exercising

Disposition

  • Patient will RTC in 2 weeks to discuss results of bloodwork. Treatment will be tailored based on these results.
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