A Common presentation of an uncommon disease
By
Dr. Muhammad Arshad
Specialist Internist
Fellow College of Physicians and Surgeons, Pakistan
KKH Tabuk, KSA
Does a Common presentation of an uncommon disease means ?
a) A common disease presenting in atypical way.
b) A rare disease presenting in atypical way.
c) A common disease presenting typically.
d) A rare disease presenting typically.
Personal Profile 38 years old lady, married last 10
years ,house wife, with out any issue, admitted via E.R with presenting complaints of
Abdominal distention - 6 months B/L leg oedema - 6 months Loose motions - 4 months
History of presenting complaints
• Abdominal distention gradual onset,
preceded by pedal oedema, worse in evening
• No history of cough, sputum ,fever, chest pain, orthopnea, PND, and urinary symptoms
• After 2 months of above symptoms diarrhea
started, watery, large volume, 5-6 episodes in day and 5-6 episodes in night, no blood or mucus with stools, no history of vomiting,
History Cont--
Personal History : Illiterate ,non smokerSocioeconomic History: Residing with
husband, Bedouin, average
livingFood and Drug History: No history of any
Food or drug allergy
Past History Three admissions in last 2 years First admission Symptoms at presentation were Backache Headache Dizziness and Fatigue
InvestigationsHb 5.8 G/dl
MCV 67.2
Albumin T Protein
29 G/L 61G/l
TLC 6×103 Calcium Corrected
2.02mmol2.22
Plts 392 ×103 Iron 2
ESR 20 TIBC 80Urea 6.4 AST
ALT2849
Creat 92 AlkPhos
158
Uric Acid 3.2 T Bil 15
Discharge diagnosis Iron deficieny anemia On Ferrous sulfate Folic acid
2nd admission
Symptoms at admission were Generalized weakness and symptoms of anemia Headache Dizziness and Fatigue
Investigations Hb 7.95 G/dl
MCV 57.2
Albumin T Protein
15 G/L 43G/l
TLC 5.8×103 Calcium Corrected
1.71mmol2.13
Plts 305 ×103 Iron 2
ESR 30 TIBC 16 ( 45-81)
Urea 5.3 AST ALT
6056
Creat 82 AlkPhos
258(136-145)
Uric Acid 3.2 T Bil 15
Ultrasound AbdomenLiver size 14cm,generalized increasedechogenisity (Fatty change)Portal vein 1.4 cmMild splenomegalyMinimal Ascites
?? Chronic liver disease Correlate clinically
Investigations PT 18.3/18.27 Calcium
Corrected 1.81mmol2.17
aPTT 40.6/40.57 Iron 2
INR 1.7 TIBC 16 ( 45-81)
TSH .005 ALT AST
23.758.9
FT4 11.66 AlkPhos
358(136-145)
Magnesium
o.77 T Bil 13
Investigations Endocrinologist opinion : Sick
euthyroid
Hepatitis B and C Serology = Negative
Transfused 2 units of Red Cell Concentrate
Discharge Diagnosis Iron deficiency anemia Hypothyriodism Liver cirrhosis
Advised to follow OPD
Patient visited OPD with fresh Biochem
Albumin = 21 G/dl , Total Protein= 42 G/dl Calcium = 1.71 mmol/L, Corrected = 2.06 Serum Ferritin= 26.30 RFTs and blood glucose = Normal ALT =148 and AST = 197, Alk Phos = 463 (136-145) T. Bil= 10.8, D.Bil = 3.3 PT=16.3/16.27, aPTT = 45.3/45.5, INR = 1.37 Repeat Hepatitis B and C serology
=Negative
3rd admission Symptoms written on refferal were Amenorrhea B/L pedal pitting oedema Diarrhea with weight loss, fatigue Dyspepsia H/o anemia and blood transfusion
Investigations Hb 6.95 G/dl
MCV 57.2
Albumin T Protein
19.3 G/L 38.8 G/l
TLC 7.8×103 PT 18.3/18.27
Plts 175 ×103 aPTT 40.6/40.57
Na 141 INR 1.3
K 2.93 AST ALT
6194.4
Creat 82 AlkPhos
230(136-145)
Urea 3.2 T Bil 15
Investigations Thyroid profile repeated FT4 =11.35 and FT4= 11.89
Ultrasound Abdomen Generalized increased echogenisity (Fatty change) Portal vein 1.5 cm Splenomegaly 16 cm Moderate Ascites
?? Chronic liver disease Correlate clinically
Plan:
Referral to higher centre for evaluation of cause of
Chronic liver disease but family refused
Patient discharged with diagnosis
Liver cirrhosis , cause ? Sub clinical hypothyroidism Iron deficiency anemia
On
Iron, Spironolactone , Lactulose, Multivitamin and frusemide
Summary A 38 yrs old Saudi female, marriedissueless , frequent admissions with symptoms of anemia, wt loss,
generalized oedema, presently admitted with H/O abdominal distention , B/L leg oedema
, loose motions 4-6 months
What is Differential Diagnosis ?
1) Chronic Liver Disease 2) Malabsorption syndrome Cause ? 3) Chronic infection of GUT Tuberculosis Giardiasis -etc 4) Cardiac cause Constrictive pericarditis
On ExaminationA thin slim wasted lady, average hight,conscious, orienated, lying comfortably on bed. Weight: 30Kg BP: 123/70, Pulse : 92/min, Temp: 37c, Spo2: 98% room air JVP: Not raisedPedal oedema: B/L Pitting +++No lymphadenopathyPallor: +++No peripheral signs of CLD
Systemic Examination Abdomen: Protuberant, flanks Full, No Scar or Abnormal vessel Liver Size 12-13 cm Spleen enlarged 2 fingers below costal
margin Fluid thrill and shifting dullness: ++
CVS : Unremarkable CNS : Unremarkable Chest : Unremarkable
What is Differential Diagnosis ?
1) Malabsorption syndrome Cause ? 2) Chronic infection of GUT Tuberculosis Giardiasis , etc 3) Cardiac cause Constrictive pericarditis 4) Ch. Liver Disease
Investigations Hb 9.7 G/dl
MCV 87.3Albumin T Protein
16 G/L 46G/l
TLC 5.07×103 Calcium Corrected
2.05mmol2.51
Plts 135 ×103 PT 16.4/16.3
ESR 30 aPTT 37.4/37.4
Urea 5.3 AST ALT
8453
Creat 82 AlkPhos
542(136-145)
INR 1.5 , 1.6 T Bil 11.9
Investigations Stool Examination: No ova or cysts No fecal
leukocytes No occult blood
noted
Ultrasound Abdomen Liver size 14cm with homogenous echo texture (Fatty change) Portal vein 1.4 cm Splenomegaly 14 cm Moderate Ascites Normal size kidneys Doppler for hepatic veins= Normal
flow, No sign of Budd Chiari syndrome
Chest X-Ray ECG
Echocardiography
All Normal study
CT scan abdomen with contrastNormal size liver, minimally dilated portal vein
and splenomegaly. Normal flow of blood in
hepatic veins and inferior vena cava.
Dilated small bowel loops with generalized
increased mucosal fold thickness
Impression= protein losing enteropathy vs Inflammatory bowel disease
C.T Abdomen
Thickening of mucosal wall
Findings of malabsorption at barium examination. • (a) Image shows duodenitis with nodularity in a fold-free duodenum. • (b) Image shows flocculation, dilution, and dilatation . • (c) Image shows moulage, which is a featureless bald appearance of the jejunum caused by atrophy of folds and wall edema.• (d) Image shows reversal of the fold pattern, with more prominent folds in the ileum than in the jejunum.
• CT Bests Barium in Adult Celiac Disease Diagnosis• By Todd Neff |July 22, 2011• Improvements in computed tomography (CT)
resolution of the small bowel, colon, and mesenteric lymph nodes have pushed CT scans ahead of traditional barium examinations in the diagnosis of celiac disease, according to a new study in the journal RadioGraphics.
• The study, led by Francis Scholz, MD, a radiologist in the Lahey Clinic in Burlington, Mass., reviewed CT findings from more than 200 cases of celiac disease from 1996 to 2009. The CT scans highlighted abnormal structural changes known to result from the disease, and in more detail than possible with a traditional barium examination, Scholz and colleagues said.
Ascitic Fluid WBC 75/cmm RBC 500/cmm Lymphocytes 95% No AFB seen TP 5G/L Albumin 3.8G/L SAAG >1.2 Glucose 5.6 Cytology No malignant cells
seen
Upper GIT Endoscopy Esophagus = normal, no varices Stomach = normal, except pale
mucosa Duodenum=Flattening of mucosal
folds and inflammatory exaudate was
noted D2 biopsy was taken
Histopathology report Total villous atrophy ,with
increased intraepithelial lymphocytes, crepts hyperplasia and infiltration of lamina propria with plasma cells and lymphocytes.
Consistent with Celiac disease (Gluten sensitive enteropathy)
Normal D2 Histology
Histology
After Treatment
Marsh Classificationstage 0: preinfiltrative mucosastage 1: infiltration of the lamina propria with lymphocytes stage 2: Crypt hyperplasiastage 3: villus atrophy with infiltration of lamina propria with lymphocytes ,plasma cellsstage 4: total mucosal atrophy, characterized by complete loss of villi, enhanced apoptosis,and crypt hyperplasia
Causes of Villous Atropy Giardiasis Zollinger-Ellison Syndrome Crohn,disease Tropical sprue Small Intestinal Lymphoma Graft-Verses host disease Hypogammaglobulinemia Eosinophilic gastroenteritis Severe malnutrition Radiation or cytotoxic chemotherapy
Investigations Conti---
Serology for anti-endomysial : Positive
Diagnosis
Celiac disease
Treatment Advised strict dietary measures
regarding Gluten free diet Nutritional Supplements -Calcium -Iron -Folic acid Patient responded to treatment -Weight gained -Edema settled -Anemia improving
Celiac Disease• T-cell mediated autoimmune inflammatory disorder of small bowel
• Intolerance to gluten protein (alcohol Soluble Prolamin ) found in Wheat, Rye , Barley and Oats
• Prevalence variable world wide, in UK 1 in 200, • 1 in 300-1500 in rest of world , more common in Irish
• 10% prevelance in 1st degree relatives
• 30% relative risk in siblings
• 50% individuals are asymptomatic
as Silent cases and latent celiac disease
Pathogenesis
Still unknown
Clinical Features Can present at any age Two peaks In infancy, In adults 3rd -5th decades of life In infancy: At weaning, infants and children present with diarrhea, symptoms of malabsorption, failure to thrive and short stature.So affected child had both growth and pubertal delay
Clinical features• In adults peak onset 3rd - 5th decade,
• Females affected more than males
• Presentation highly variable, depending on
• severity and extent of small bowel involvement
• Female may land in Gynae floor with primary
amenorrhea and infertility
• Patient may land in surgical floor with fracture
Clinical featuresMostly adults present with diarrhea ,
steatorrhea , abdominal pain, tiredness,
weight loss, Anemia, bone pains, osteomalacia oral ulceration (Apthus), angular
stomatitis Dyspepsia, and bloating - ( IBS ? )Many patients present with iron
deficiency anemia alone.
Clinical presentation can be:
Gliadan Shock: Massive watery diarrhea just like
acute cholera within hours of eating cereal containing gluten by a patient who was on treatment with gluten free diet
Acute Celiac Crises
Manifested by Severe diarrhea,
dehydration, weight loss, acidosis,
hypocalcemia, and hypoproteinemia
Refractory Celiac Symptomatic severe small
intestinal villus atrophy that does not
respond to at least 6 months of a strict gluten-free diet and this villus atrophy is not caused by any
other disease or overt intestinal
lymphoma
Causes of Villous AtropyGiardiasisZollinger-Ellison SyndromeCrohn,s diseaseTropical sprueSmall Intestinal LymphomaGraft-Verses host diseaseHypogammaglobulinemiaEosinophilic gastroenteritisSevere malnutritionRadiation or cytotoxic chemotherapy
Extra intestinal Manifestations Anemia, any type Hemorrhage ThrombocytosisOsteopenia, Pathologic fractures , Osteoarthropathy Muscular AtrophyTetany Weakness Generalized Elevated liver enzymes, NASH,NAFLD Peripheral neuropathy , Ataxia Cerebellar and posterior column damage, SeizuresSecondary hyperparathyroidism, Amenorrhea, infertility, impotence, hypothalamic-pituitary dysfunction Follicular hyperkeratosis and dermatitis, Petechiae and
ecchymoses Edema HypoproteinemiaDermatitis herpetiformis
Definite Association Dermatitis herpetiformis Type 1 diabetes mellitus 2-8 % Hypothyroidism/hyperthyroidism 5%, IgA deficiency 2 % Epilepsy with cerebral calcification Inflammatory bowel disease, and Microscopic colitis Primary Billary Cirrhosis 3% IgA mesangial nephropathy Rheumatoid arthritis Down syndrome Fibrosing alveolitis, Bird-fancier's lung Recurrent pericarditis Idiopathic pulmonary hemosiderosis Sjogren,s Syndrome 3 % Sarcoidosis
Possible Association
Congenital heart disease, Cavitary lung disease Systemic and cutaneous vasculitis Systemic lupus erythematosus, Polymyositis Myasthenia gravis, Iridocyclitis or choroiditis Cystic fibrosis, Macroamylasemia Addison's disease Autoimmune thrombocytopenic purpura Autoimmune hemolytic anemia Schizophrenia, Autoimmune liver diseases
Diagnosis History - Symptoms of Anemia and malabsorption Examination Investigation CBC with peripheral film may show
target cells, spherocytes, and Howell-Jolly bodies
Biochem, esp Serum Calcium, iron, folate, B12, phosphate, magnesium, Vit D levels
ALT, AST, Alk Phos DEXA scan for metabolic bone disease
Upper GIT endoscopy with D2 Biopsy Anti-endomysial and Anti tTG antibodies 85-95 % sensitive and 99% specific
However need to check IgG antibodies in IgA
deficient individual
Become negative with successful treatment
Treatment
Key Elements in the Management of Celiac Sprue
• C onsultation with a skilled dietitian • E ducation about the disease • L ifelong adherence to a gluten-free
diet • I dentification and treatment of nutritional deficiencies • A ccess to an advocacy group • C ontinuous long-term follow-up
Gluten free diet No intake of products made of Wheat Barley Rye OatsCan take foods as Rice , Maize , potato
meat, fish, chicken, vegetables, fruits
Immunosuppressive drugsindicated
Gliadin Shock Acute Celiac crises Refractory Celiac disease
Complications Increased risk of enteropathy
associated T-cell lymphoma, Small bowel
carcinoma, Squamous carcinoma of oesophagus,
and Metabolic bone disease Ulcerative jejunoiletis Collagenous collitis and Sprue
PrognosisExcellent Prognosis: If early diagnosis and treatmentMalnutrition and even death(complications) if diagnosed late and no treatmentEarly treatment: restore normal absorptive functionsAdvanced complications may not be completely reversed such as neuropathy or ataxiaIts not always a life long condition10-20 % of children become Tolerant to glutenOther develop latent celiac sprue
Message
Celiac disease should be included in differential diagnosis of unexplained
Iron
deficiency anemia and malabsorption
Swat valley of Pakistan THANKS ALL
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