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