15yr old female with anemia under evaluation

 History taken by

Dr.Chandana Vishwanatham

Dr. Sai charan 

Dr.Susmitha

15year old female who is the first child of a consanguinous married couple

her mother expired during the birth of 3rd child

She has 2 younger brothers who are apparently alright with no health related issues

Since childhood she has been having recurrent Respiratory tract infections(She almost always had cold,fever,cough with sputum) aggrevated during winters

Since 4yrs she is complaining of yellowish discoloration of eyes on and off not preceeded by fever with no h/o pruritus,No history s/o CLD

h/o easy fatigability , generalized weakness since 4years associated with loss of appetite,progressed to great extent in the last 2 to 3months

h/o short stature,failure to gain weight appropriate for her age and delay in secondary sexual characters

Attained menarche in 2020 October and now has 2months h/o of ammenohrea

4years back(2016) she had h/o jaundice and anemia for which one blood transfusion was done,her jaundice subsided slowly and she never had jaundice for the next 3yrs

2020 october she again developed yellowish discoloration of eyes which subsided on its own

2021 jan yellowish discoloration of eyes recurred and not subsided till now

h/o 2 blood transfusions in feb 2021

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Evaluated in various hospitals since childhood

since the age of

2 years(9/2005),7.3kgs wt, started having fever,cold ,cough with expectoration,during which her x ray showed right middle lobe consolidation,hb 8.8,TLC,plts Normal,CRP strongly positive,smear for MP+

Diagnosis:Failure to thrive with recurrent RTI's

Treatment:cefuroxime drops and treated empirically with ATT(Rifampicin, isoniazid,pyrazinamide for 2months)

even after which she has been having recurrent cold, cough and high grade fevers

23/3/2006:LRTI ,CSOM diagnosed and treated

22/8/2006:B/L bronchopenumonia treated with syp.cefpodoxime

11/09/2006:cough,cold,fever 

13/9/2006(Age 3yrs):Monteux test was done :positive with Erythema 12mm,induration 12mm and was started on ATT again for 2months

Hb 10.8,Tlc ,plts normal

AEC 408

4/1/2007(age 4yrs ,Wt 10.5kgs):Her symptoms did not resolve and continued with ATT for 4more months

15/6/2007:cold,cough,fever (102F)returned

also gave history of itchy lesions over hands and was diagnosed with Scabies and treated with ivermectin,permite cream

20/10/2007:Acute LRTI treated with antibiotics

27/05/2009and 11/07/2009:acute LRTI treated with antibiotics 

7/9/2009:Hb 8.5,RBC 3million,AEC 476,

11/11/2010:LRTI

6/4/2011(Age 8yrs,Wt 11kgs) :LRTI treated with Iv antibiotics and inj deriphylline

serum ADA 10(normal <30)

12/10/2011:CT chest:Few prominent bronchi left lower lobe,B/L ground glass opacities

USG :Borderline spleenomegaly

10/12/2011 :LRTI

14/10/2011: Recurrent RTI,Failure to thrive, Protein energy malnutrition

Their differentials were 1.PEM with kochs,2.PEM with bronchiolitis,3.PEM with ?Enteric fever,4PEM with ARI/Hyperactive airway disease

Hb 10.8,WBC , platelets normal,MCV 68,McH 20.5,MCHC 30.5

serology negative

RFT,SGPT,ALP normal

2012 to 2014:5episodes of LRTI (Fever,cold,cough with sputum)

age 9yrs wt 13kgs

age 11yrs wt 16kgs

2/10/2014:Was having lesions on sides of neck and was treated with Acyclovir for Herpes

11/4/2016**:For the first time along with fever,cold and cough pt developed yellowish discoloration of eyes

Hb :9.0,RBC:3.1,TLC and platelet normal

TB 2.1mg/dl

1PRBC transfusion was done

Treated as ?Viral hepatitis

5/07/2016:cough+,chest x ray:Interlobar effusion upper and middle lobe, prominent brinchivascular markings? Bronchitis

9/8/2016,11/10/2016:LRTI

12/03/2017(13yrs 23kgs):LRTI,chest x ray :B/L upper lobe consolidations,hb 10.2,CUE:pus cells 19-20,alb trac

15/8/2017,7/10/2017,18/10/2017: Recurrent LRTIs

31/10/2017:Hb 10.6,TLc platelet normal

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13/11/2017

For the first she visited our Hospital with c/o cough since 10days,sputum,SOB grade 1

In the background of recurrent LRTI,2D echo was done

2D echo in our hospital showed Moderated SA VSD( left to right shunt),EF 68%,Good LV systolic function,trivial TR

hb 11,TLC 6200,plt 5lakhs

pt was immediately taken to cardiologist

2D echo at an outside corporate hospital:normal sized chambers,No RWMA,Normal LV/RV function,

nothing mentioned about VSD

so she came back to our hospital and was in follow up with dept of TB and chest for 2 yrs till the end of 2018 being treated for allergic brinchitis

She was prescribed with various medicines for her Recurrent LRTIs(symbecort inhalers,moteleukast,aphylline tabs,Tab ferreo XT etc) and nothing helped

8/7/2019 to October 2019(age 14yrs wt 24kgs): They stopped coming to our hospital and went to other local hospitals for RTIs

Human growth hormone was done:4.53ng/ml (which is normal)

USg moderate spleenomegaly

hb 8.1,TB 2.1mg/dl

30/5/2020:loss of appetite started and on and off pain abdomen(subsided later) upon her background of LRTI continued

16/08/2020 :Hb 8.1,RBC 3.7million,MCV 77,MCH 27.1,TB 3.9mg/dl

5/10/2020:Her yellowish discoloration of eyes recurred lasted for about 1 month and subsided on its own(TB 4.4mg/dl-->1.2)

18/1/2021:she again developed yellowish discoloration of eyes ,TB 3.9,direct 2.6,indirect 1.3, with mild spleenomegaly on USG

?Gilbert,? Hemolytic anemia

24/1/2021 

upper GI endoscopy done:Normal

26/1/2021

Hb 5.6,RBC dropped to 1.2M***,MCV 141,MCH 36,Dimorphic picture shows macrocytic,normochromic ovalocytes ,tear drop cells and 7-8 rbcs/100wbcs

High performance liquid chromatography

HbA 87.4%

HbF 0.6%(<1 is normal)

HbA2 :3(normal 2-3.5)

serology negative

urine reactive for bile salts and bile pigments

Hb 6.0,RBC 1.9M,TB 3.1

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She was taken to NIMS  admitted under gastroenterology from 4/2/2021 to 13/2/2021

Hb 9.6

TLC plts normal

retic count 4%

retic index 1.85%

RFT normal

coombs DCT,ICT negative

thyroid function tests normal

ANA immunofluorescence negative

IgG TTG negative

anti endomyseal ab negative

G6PD 30.3 (normal)

LDH 544(raised)

Was prescribed with oral iron and B12 for 2weeks and she came back home

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 After 4days 17/2/2021 her generalized weakness,loss of appetite and jaundice has aggrevated for which she was admitted in local hospital where 2 blood transfusions were done

Before admission:Hb 6.5,TB 3.9,RBC 2M

At the time of discharge(20/2/2021)Hb 10.0,TB 2.2,RBC 4M

Total protein :6mg/dl

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After 4days she was taken to a top govt hospital with drop in Hb again post transfusion (Hb 9.3,RBC 3M,plt 2L,DCT 3+)

1/3/2021 In osmania pt was adviced for vit B12 levels,folic acid levels,osmotic fragility test,serum ferritin,hb electrophoresis again

From ther they went to a top corporate hospital where pt was diagnosed with ?AIHA 

adviced for clinical exome sequence,they gave the sample for sequencing ,it takes one month for the report(report awaited)

and was started on Tab Wysolone 20mg OD from march 1st 2021 and was asked to review after 2 weeks

but in the meanwhile pt and her attendors felt that her jaundice and her generalized weakness progressed suddenly and was brought to our hospital.

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O/E pt short thin built,Wt 28kgs

gen exam:Pallor+,Icterus+,

No lymphadenopathy,pedal edema

JVP raised

RS:

chest expansion 1.5cms which appeared a little less on right side

dull note on percussion of Rt ISA,all other lung fields resonant

Auscultation:BAE+,?Bronchial BS rt ISA and decreased Air entry rt ISA

P/A

shape normal

umbilicus central , inverted

no increase in local temp,no tenderness

Mild spleenomegaly+

No hepatomegaly

BS+

No free fluid

Diagnosis:

Autoimmune hemolytic anemia

?Common variable immunodeficiency syndrome

Recurrent RTIs

Indirect hyperbilirubinemia

Failure to thrive

hb 3.2

tlc 8,200

plt 3.0l

RBC 0.8M**

MCV 116

MCH 37

MCHC 31

RDW 25(increased)

TB 8.16

DB 0.77

AST 43

Alt 23

ALP 113

Tp 5.9

Alb 4.6

A/G 3.4

narrow gamma gap is noted

RFT normal

PBS macrocytes,macroovalocytes,anisopoikilocytosis with hypochromia

coombs:

DCT 4+(positive)

ICT 1+

Auto control 3+(positive for auto antibody,thermal amplitude test awaited)

For 17/F

A 17 year old lady presented to the emergency room with jaundice since 2 days. She also reported exertional dyspnea, fatigue and pedal edema since 2 days. 

Her past history was also significant for recurrent childhood lung, ear and sinus infections. She also has been having persistent anemia (chart in the blog) since early childhood. She also had significant developmental abnormalities with short stature (growth chart plotted in blog) and wasting (growth chart in blog) and also delayed menarche. Dietary history was insignificant and she did not have any bowel or bladder dysfunction. 

Clinical examination from head to toe revealed a patient with short stature and in mild respiratory distress. Her vitals at presentation were - 

PR - 150 BPM

BP - 100/60 mm Hg

Temp - 98.4 F (chart shared in the blog)

RR - 26/min

Spo2 - 98% on room air

GRBS - 130 mg/dl

The patient had severe conjunctival pallor and lemon yellow scleral icterus. She did not have any features of active sinusitis, tongue was pale and bald. No cervical, axillary or inguinal lymph nodes were not palpable. Skin turgor was normal and no rashes were observed. 

Her nails were pale and showed Quincke's pulsations, consistent with high output state/failure. She also had cervical venous hum and prominent abdominal aortic pulsations. Examination of feet showed pitting type pedal edema extending upto her ankles. 

Systemic examination was significant for hyperdynamic precordium, palpable P2 and raised JVP. Auscultaton revealed a loud P2 with a pansystolic murmur along the left sternal border accentuating on inspiration. She also had an S3 gallop, accentuating on inspiration. Auscultation of the right femoral artery with occlusion of forward flow revealed a diastolic bruit. Respiratory system exam was significant for decreased intensity of breath sounds. Abdomen exam showed moderate splenomegaly and mild hepatomegaly. CNS exam was insignificant. 

After reviewing her past medical records and her current history and physical exam, she was diagnosed with Autoimmune Hemolytic Anemia with Acute High Output Heart Failure.