Evidence Base Hypercholesterolemia and Follow-up SoapNote

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InitialSoap-FamilialHypercholesterolemia.docx

INITIAL VISIT SOAPNOTE: Familial Hypercholesterolemia

ID: Initials : M. K, , Age 36, Sex: female, Race: Hispanic, DOB 2/3/1987. Marital Status: Married. Patient came in by herself. Patient seems to be good historian.

Subjective:

CC: “I have these awkward yellowish lesions on my hands”

HPI: M.K., is a 36 years old female who presents to the facility alone with complains of yellowish lesion on her hands. She describes the lesions as itchy and painless. She stated that the lesions started about two months ago, but she was convinced that they would go away on their own. She denies knowledge of any aggravating or relieving factors, since she has not tried any medication.

Past Medical History:

Allergies: she does not have any known drug allergies

Hospitalizations: she has never been hospitalized.

Surgical: she has had one caesarian section at 27 years. Uncomplicated

Medications: she is not taking any medications.

Immunizations: she received all childhood vaccinations. Up to date including flu and COVID 19 vaccines.

LMP: Last menstruation period was 4/11/2023, she denies being pregnant, or experiencing menopausal symptoms.

Social History: the patient identifies as a heterosexual female, married with one child. She lives in their owned apartment with her husband and son. She admits having a smoke alarm in her house, and living in a safe and secure place. She denies smoking or drinking alcohol, even in small amounts. She is sexually active with one partner and they use withdrawal as a means of family planning.

Family History: Her mother is alive, at 61 years and was diagnosed with hypercholesterolemia at 34 years, and has been managing it with statin drugs. Her father is alive with 64 years, living with both hypertension and diabetes. Her brother is alive, at 33 years and has no health problems. Her son is 9 years, alive and healthy. She denied information abouth the health history of both paternal and maternal grandparents, since her parents are inmmigrants.

Preventative care: she attends a yearly wellness checkup, and performs mammogram and pap smears during those visits.

Review of Systems

Constitutional: she denied having fever or chills, fatigue or general body weakness. She admitted recent weight gain.

Head: denied trauma.

Eyes: she denied changes in her vision, including blurring of vision, and excessive tearing.

Ears/Nose/Mouth/Throat: she denied ringing of the ears, or ear discharge. She denied having a runny nose, sore throat, and postnasal discharge. She denied having mouth sores

Cardiovascular: she denied experiencing palpitations, chest pain, or peripheral edema.

Respiratory: she denied experiencing shortness of breath, cough, wheezing or difficulty in breathing

Gastrointestinal: she denied vomiting, feeling nauseated. Denied constipation or diarrhea

Genitourinary: the patient denied having increased urgency or frequency to urinate, no vaginal discharge, or genital sores.

Musculoskeletal: the patient denied having stiffness in joints and muscles. She denied having erythematous or swollen joints

Integumentary & breast: she mentions having yellowish lesions on both hands. She denied having any tumors or rashes. She admits that the lesions are occasionally itchy and painful. She denies any lumps or masses on both breasts.

Endocrine: she denied excessive urination, thirst or hunger. No reports of night sweats were reported. Denied weight changes.

Hematologic/Lymphatic: no reports of bleeding, or swollen, or painful lymph nodes

Neurological: she denied having headaches, no dizzines, weakness, or seizures.

Psychiatric: she denied being suicidal, or homicidal. She denied having visual, or auditory hallucinations.

Objective

Vital Signs: HR 72 BP 111/72 Temp 97.7F RR 19 SpO2 97% Pain 4/10

Height 5’2” Weight 160lbs BMI 29.3

Labs, radiology or other pertinent studies:

Lipid profile: total cholesterol level= 341mg/dL(High).

HDL= 35 mg/dL (low).

Triglycerides 160mg/dL (high)

Physical Exam

Constitutional: the patient is well nourished. She is not in acute distress. She is alert and oriented x 4

Skin: her skin is warm, and intact, except the hands. There are yellowish and greasy lesions.

Head: her head is normocephalic and atraumatic.

Eyes: Her pupils are equal and round.

Ears: Tympanic mmbrane and ear canal no pain, infamation or discharge. Hearing intact o tinnitus

Nose: no runny nose , no ulcerations, no septal deviation. Nasal mucosa is pinkish, no polips

Mouth/Throat: no uvula deviation. Tonsils and pharynx pinkish, no inflamation or exudates

Neck: supple, trachea midline, no lymphadenopathy

Respiratory: her breathing rate is regular, and unlabored. No wheezes, crackles or rales.

Cardiovascular: Si, S2 present. heart rate and rhytm is regular. There is no peripheral edema, or heart murmurs.

Gastrointestinal: Abdomen soft. Bowel sounds present in all four quadrants. No hepatomegaly. No splenomegaly. No bruits. No costovertebral tenderness

Musculoskeletal: Upper and lower extremities with full range of movement. Muscle strenght in all extremities 5/5.

Integumentary: firm, yellow xantomas in both hands, painless

Neurological: Alert and oriented x 4. Craneal nerves intact. No anxiety. No depression.

Assessment

Differentials

· Familial hypercholesterolemia (FH) (E78.01): it is a genetic condition that impacts the metabolism of low-density lipoprotein (LDL) cholesterol (Liu et al., 2020). Individuals diagnosed with familial hypercholesterolemia (FH) exhibit elevated concentrations of low-density lipoprotein (LDL) cholesterol in their bloodstream, potentially resulting in the formation of xanthomas. The prevalence of tuberous xanthomas is notably high among individuals diagnosed with familial hypercholesterolemia (Schmidt et al., 2020). Since the patient’s mother suffered from hypercholesterolemia, it is possible that it was genetically transmitted to the patient.

· Sitosterolemia (E78.89): This is a hereditary condition that has a low incidence rate and impacts the assimilation of plant sterols (Tada et al., 2021). Individuals diagnosed with sitosterolemia exhibit elevated concentrations of plant sterols in their bloodstream, potentially resulting in the formation of xanthomas.

· Cerebrotendinous xantomatosis (E75.5): is a genetic disorder which affects the body in processing cholesterol and bile acids. It leads to neurological, ocular vascular, and musculoskeletal symptoms from deposition of cholestanol and cholesterol in these tissues (Parry et al., 2019). It can lead to issues with brain function, movement, and vision, diarrhea, and osteoporosis. Approxiamtely 75% individuals, have cataracts as the first finding, often appearing in the first decade of life. Xanthomas appear in the second or third decade; they occur on the Achilles tendon, the extensor tendons of the elbow and hand, the patellar tendon, and the neck tendons (Federico et al., 2022). 

Diagnosis: Familial hypercholesterolemia (FH) (E78.01)

Plan

Familial hypercholesterolemia (FH)

Diagnostics: Lipid profile

Treatment: atorvastatin 20mg OD.

Take one pill every night, once a day.

Education: The adoption of a healthy lifestyle has been shown to have a positive impact on reducing LDL cholesterol levels and mitigating the risk of cardiovascular disease. The recommended measures for maintaining good health include adherence to a nutritious diet that is low in saturated and trans fats, maintenance of a healthy body weight, regular engagement in physical activity, and abstention from smoking.

Follow Up: the patient should return after one month for follow up Lipid profile test

References

Federico, A., & Gallus, G. N. (2022, March 17). Cerebrotendinous xanthomatosis - GeneReviews® - NCBI Bookshelf. Cerebrotendinous Xanthomatosis. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1409/

Lui, D. T. W., Lee, A. C. H., & Tan, K. C. B. (2020). Management of Familial Hypercholesterolemia: Current Status and Future Perspectives.  Journal of the Endocrine Society5(1), bvaa122. https://doi.org/10.1210/jendso/bvaa122

Schmidt, E. B., Hedegaard, B. S., & Retterstøl, K. (2020). Familial hypercholesterolaemia: history, diagnosis, screening, management and challenges.  Heart106(24), 1940-1946.

Tada, H., Nomura, A., Ogura, M., Ikewaki, K., Ishigaki, Y., Inagaki, K., Tsukamoto, K., Dobashi, K., Nakamura, K., Hori, M., Matsuki, K., Yamashita, S., Yokoyama, S., Kawashiri, M. A., & Harada-Shiba, M. (2021). Diagnosis and Management of Sitosterolemia 2021.  Journal of atherosclerosis and thrombosis28(8), 791–801. https://doi.org/10.5551/jat.RV17052

Parry, A. H., Wani, A. H., Bashir, M., & Gojwari, T. A. (2019). Cerebrotendinous xanthomatosis - A case report.  The Indian journal of radiology & imaging29(3), 332–334. https://doi.org/10.4103/ijri.IJRI_444_18