sle 06.30.2014
DESCRIPTION
Pediatric morning report at Primary Children's HospitalTRANSCRIPT
MORNING REPORTJUNE 30TH, 2014
Jawaria K. Alam, MD/PGY3
HPI ID:
MS is 13 year old Hispanic female who was recently diagnosed with profound primary hypothyroidism (4 months prior to current presentation) after developing s/s of fatigue, dry skin, thinning hair and joint pain who now presents with pancytopenia.
HPI: Pt and aunt report that she was previously healthy until approximately 5-6 months
ago when she had abdominal pain and was diagnosed with appendicitis resulting in appendectomy. 1 month following her appendectomy she began complaining of back pain and pain in her legs and was found to have a UTI. However, she was also complaining of symptoms of fatigue, thinning hair and dry skin and so was referred to Endocrinology where she was diagnosed with hypothyroidism and began treatment with levothyroxine.
After starting treatment with Levothyroxine family note she seemed to improve briefly. However, over the last 3 months she continues to complain of fatigue and continued bone pain to her thighs/knees and back. She has also developed a rash on her hands and face and is having fevers on and off for the past 2 months.
ROS On further ROS:
Constitutional: Fevers on and off for 2 months, no night sweats or chills GEN: Fatigue preventing school attendance/daily activities, worse over last 2 weeks HEENT: Hair loss and thinning; Scleral icterus for 3 months and periorbital edema for
approximately 3 months CV: Denies chest pain, but noted edema in face and feet for 3 months RESP: Positive for shortness of breath and nonproductive cough x 1 week GI: Mixed diarrhea/constipation over the past several weeks without any
hematochezia or melena FEN: 2-3 months decreased oral intake, anorexia, 6 lb weight loss. Endorses nausea
and had intermittent vomiting this week GU: History of UTI, no current dysuria or hematuria HEME: Bleeding gums for two weeks, did note a large clot from her lower gums
once; epistaxis one minute daily for the past week MSK: Weakness, bone and joint pain for 5-6 months SKIN: Rash to face for 1 year, however, worse over the last 3 months. Additionally
skin sallow in appearance x 3 months; dry skin; no pruritis NEURO: No headaches or visual changes
HPI Past Medical Hx:
Hypothyroidism At diagnosis Free T4 undetectable, TSH high at 252 Delayed menarche and delayed bone age
UTI x 1 following surgery
Surgical Hx: Appendectomy
Medications: Levothyroxine 125 mcg qday
Allergies: NKDA
HPI Family Hx:
Maternal grand aunt with thyroid dysfunction. Paternal family history unknown. No other family history of any other specific gastrointestinal, hepatic, pancreatic, hematologic, oncologic or autoimmune disease.
Social Hx: Living with maternal aunt for approximately 10 months.
Born in CA. No recent travel history. Aunt's three children and their father also live at home with them. Mother lives in the Midwest. Mother not currently legal guardian of patient.
Physical Exam VS: T: 38.2 HR: 111 RR: 17 BP: 105/70 SaO2: 97% RA GEN: Alert but tired. Ill appearing. Appears smaller
than age. HEENT: Normocephalic. Mild scleral icterus. Pupils are
reactive and equal. EOMs intact. Erythema and ulceration of hard palate. Facial erythematous rash, prominent on bridge of nose. No gingival oozing. Tympanic membranes normal with good light reflex. No nasal discharge, but light amount of dried blood in right nare.
LYMPH: Ant chain 2+ LAN, soft, mobile, no supra/sub clavicular, axillary LAN.
RESP: Lungs are clear to auscultation bilaterally without adventitious sounds, no increased work of breathing. Positive dry cough in clinic noted.
CV: Regular rate and rhythm with intermittent S3 noted. Hands and feet cool to touch with CRT 3-4 sec.
Physical Exam continued ABD: Distended, but soft. BS present and normal.
Liver edge 7 cm below RCM. No splenomegaly. BACK/SPINE: Reports tenderness to back mid-lumbar
area. No swelling/erythema. MSK: Bilateral knee effusions. Bilateral ankle and
feet swelling. EXT: No visible deformities, no cyanosis or clubbing.
Pitting edema on dorsum of feet to mid shins. SKIN: Diffuse lace like macular erythematous rash
over palms, fingers and toes. Diffuse alopecia. NEURO: Alert and responsive, appropriate, oriented. No
focal abnormalities. No ataxia or adventitious movements.
Laboratory CBC w/diff:
WBC: 3.6, Hgb: 6.4, Hct: 19.8, Plts: 133 Diff: 9% Bands, 81% N, 7% L
Imaging
Differential Diagnosis 13 yo Hispanic female with recent dx of
hypothyroidism who now presents with hepatomegaly, pancytopenia, cardiomegaly, rash and fevers.
What other labs or studies do you want?
Differential Diagnosis GI
Autoimmune Hepatitis
Infectious Hepatitis
Acute Hepatic Failure
Wilson Disease Celiac Disease Inflammatory
Bowel Disease Endo
Hypothyroidism
Heme/Onc Leukemia Lymphoma Hepatoblastoma Hepatocellular
carcinoma MAS/HLH
ID Pyogenic liver
abscess Peritoneal
Abscess EBV
HIV Hep B
Rheum SLE Systemic Onset
JIA Sarcoidosis Dermatomyositis MCTD
CV Myocarditis Acute
pericarditis
Systemic Lupus Erythematosus (SLE)
Multisystem autoimmune disease that affects the skin and internal organs Characterized by pathogenic circulating autoantibodies MC involved organs: skin, joints, kidneys, blood
forming cells, blood vessels, and the CNS Incidence in children <18 is 10-20 new cases per
100,000 per year Higher rates in Americans of African, Asian and
Hispanic origin Females to males 4:1, increasing to 9:1 in women of
childbearing age Rare to make diagnosis before the age of 5
SLE- Etiology and Pathogenesis
Etiology poorly understood. Several factors likely influence risk and severity of disease Genetics, hormonal milieu and environmental
exposures Hallmark of SLE is the generation of
autoantibodies directed against self-antigens, particularly nucleic acids Apoptosis Autoantibodies -> Immune complexes (IC) Deposition of IC -> Local complement activation,
initiation of a pro-inflammatory cascade -> Tissue damage
1997 American College of Rheumatology (ACR) Classification Criteria for SLE
Needs ≥ 4/11 of following criteria: Malar rash (butterfly rash sparing nasolabial folds) Discoid lupus rash Photosensitivity Oral or nasal mucocutaneous ulcerations (usually painless) Non-erosive arthritis Nephritis (proteinuria and/or cellular casts) Encephalopathy (seizures and/or psychosis) Cytopenia (thrombocytopenia, lymphopenia, leukopenia,
Coomb’s positive hemolytic anemia) Positive ANA Positive immunoserology (anti-dsDNA, anti-Sm,
antiphospholipid antibodies)
Other Clinical Features- Not included in Classification Criteria
Constitutional Symptoms- Fever, fatigue, weight loss, anorexia
Other rashes – maculopapular rashes 2/2 vasculitis
Polyarthralgia Raynaud phenomenon Lymphadenopathy Hepatomegaly, Splenomegaly Hypertension
Other Laboratory findings in SLE
Elevated ESR with normal CRP Low complement levels (C3, C4) Elevated IgG levels Other autoantibodies: anti-Ro, anti-La,
anti-RNP, RF
Treatment Hydroxychloroquine
Standard therapy for SLE Proven efficacy in decreasing frequency and severity of disease flares
Corticorsteroids Often used in initial treatment depending on severity and organ
involvement Pulse therapy for severe lupus nephritis, hematologic crisis or CNS
disease Azothioprine
Typically for hematologic and renal manifestations Mycophenolate Mofetil
Typically for hematologic, renal and CNS manifestations Cyclophosphamide
Used for severe renal and CNS manifestations Rituximab
Used for resistant thrombocytopenia
Natural Course and Outcomes Relapsing and remitting course of
disease 10 year survival >90% Morbidity related to disease and
treatment Early onset of coronary artery disease Bone disease- osteopenia, AVN Malignancy
Mortality usually related to infection, renal, CNS, and pulmonary disease
A mnemonic for SLE diagnostic criteria
A RASH POINts MD: Arthritis
Renal disease (proteinuria, cellular casts) ANA (positive antinuclear antibody) Serositis (pleurisy or pericarditis) Hematological disorders (hemolytic anemia or leukopenia or lymphopenia
or thrombocytopenia)
Photosensitivity Oral ulcers Immunological disorder (anti-dsDNA, anti-Sm, antiphospholipid antibodies) Neurological disorders (seizures or psychosis, in the absence of other
causes)
Malar rash Discoid rash
References A Resident’s Guide to Pediatric
Rheumatology- 2011 Revised Edition from The Hospital for Sick Children
Medstudy Nelson Textbook of Pediatrics Visual Dx Zitelli and Davis’ Atlas of Pediatric
Physical Diagnosis