Sunday, October 10, 2021

HomozygousThalassemia E Female with recurring health events

32yr old female was apparently asymptomatic 11 yrs ago when she (noticed yellowish discoloration of sclera and skin,) developed jaundice that susbised following medication 
A similar episode occurred in 2018 which again subsided after medication
In April 2019, she developed jaundice during her 8th month of pregnancy, which resolved after being treated with medications and she had an LSCS at term.
In August 2020 she had abdominal pain for which, MRCP was performed and reported to have stone in CBD and a stricture. a stent was placed which was removed 2 1/2 momths later.  
3months after stemd removal in January 2021 she underwent Cholecystectomy
She waa what is asymptomatic after cholecystectomy from January to June she had lost 9kgs, on June 7th 2021 she complaint of abdominal pain associated with vomiting with fever and chills which all lasted for one day the pain was more specific in the right hypochondrium 
she had lost appetite, experienced shortness of breath and heartburn with all resolved following medication after visiting a local physician.
on 2nd July 2021 a similar episode was repeated i.e of pain in the abdomen, vomiting and fever 
on 25th September, abdominal pain was unbearable which was not even control by painkillers she usually takes for pain to subside and she was admitted in AIG
on 5th October 2021 MRCP was performed a structure was noted in CHD
ercp was performed on 6th of October, she fell pain post procedure for 2 days which gradually reduced


investigations on 4/10/2021

hemogram- 
hb-8.5
TLC 8800
PTS- 150,000
ESR- 34
TOTAL BILIRUBIN- 3.5
DIRECT BILIRUBIN 1.5
INDIRECT BILIRUBIN 2.0
SGPT (ALT) 93
SGOT (AST) 68
ALP 271
TOTAL PROTEINS 8.0
ALBUMIN 4.1
GLOBULIN 3.9
serim LDH- 292
Serum creatinine- 0.7
previous investigations reports:- 
Radiology:- 
19th August 2020
USG Abdomen IMPRESSION:
1. Hepatosplenomegaly.
Diffusely thick gall bladder with sludge and microlith

17th August 2020, USG while abdomen
Impression:-
Chronic cholecystitis with cholelithiasis. # Choledocholithiasis. # Mild splenomegaly with a hyperechoic mass in it - ? haemangioma.

1st October 2020
GALL BLADDER: 
Lightly over distended gall bladder with intraluminal sludge and microliths at elongated cystic duct.

CBD is mildly dilated at porta show diffuse concentric thickening at distal segment causing mild dilatation of IHBR -  benign stricture. 
Mild splenomegaly.

on 20th October, 2020
IMPRESSION: MRCP reveals:

1. Hepatomegaly.
2. Over distended gall bladder.
3. Few heterogeneously enhancing iso to hyperintense lesion adjacent to head of pancreas, periceliac - Suggestive of peripancreatic
lymphnodes. callber with concentric minimally enhanc
4. Common bile duct is markedly narrowed in caliber with concentric minimally enhancing thickening of CBD wall causing minimal upstream biliary dilatation - Suggestive of benign stricture.
5. Gross splenomegaly with well defined rounded hyperintense focus within splenic parenchyma. On post contrast study minimal diffuse

30th October 2020 upper abdomen USG
IMPRESSION :
1. Mild Splenomegaly with haemangioma. 
2. Mild diffuse wall thickening of Gb with calcified polyp / calculus in lumen at fundus.
3. Dilated CBD (7mm) with stent in situ.


on 15th Feb 2021 isg abdomen
IMPRESSION:
1)Post cholecystectomy status with mildly altered texture of hepatic bed at gall bladder fossa region & prominent bilobar IHBR.
2) Mildly dilated CBD with stent in situ & mild focal wall thickening at lower part
 3) Normal size pancreas with heterogeneous texture.
4) Few mildly enlarged retro peritoneal lymphnodes.
5) Chronic cervicitis with PID.

5th October 2021
finding- Intrahepatic main and sectoral ducts, common hepatic duct and cystic duct remnant are dilated with abrupt cut off of common hepatic duct.
Gall bladder is not visualised History of cholecystectomy.
Mild hepatomegaly.
Small 8mm well defined hyperintensity within spleen.


7th October 2021
Cytology study indicated- Benign Ductal Epithelial Cells. Negative for malignancy

Investigations from 9/10/2021
Hb- 8.4
TLC- 7900
Platelets- 1.9
TB- 2.21
DT - 1.23
AST- 75
ALT- 60
AKP- 594
TP- 7.2
ALB- 4.0
A/G- 1.22

She came for a follow up after and plan for further management. 
hemogram- 
hb-8.3
RBC- 4.20, 
 anisopoikiloytosis microcytic hypochromic
TLC 8500
PTS- 170,000 adequate in number, giant platelets seen
ESR- 34
TOTAL BILIRUBIN- 1.4
DIRECT BILIRUBIN 0.8
AST 46
ALP 439
TOTAL PROTEINS 6.5
ALBUMIN 3.0
A/G- 0.88
29/12/21
Pt underwent CBD stent removal and new stent was placed



New stent 




ERCP IMAGES
Guide wire passed through CBD followed by CHD and left hepatic duct
Advancing stent over guide wire
Retracting the guide wirenewly placed stent

AMC Case 
32 /F 
30/12/21
Subjective- 
Pt complains of 1 episode of vomiting at 5 AM, non projectile, bilious, watery, no food particles in contents
This was followed by fever sudden in onset, high grade at 5:30 AM

Objective- Patient is c/c/c 
TEMP - 102.5 F
BP - 120/80 mm Hg
PR - 107 bpm
RR- 20 cpm

CVS - S1, S2 +
RS - BAE+, NVBS 
P/A - soft, non tender, BS+
CNS - no FND 

Assessment-Post ERCP cholangitis 
 (post hepatic jaundice underwent ERCP for stent replacement yesterday)

Plan- 
Iv ceftriaxone
Tab paracetamol 650mg po
Tepid sponging


Laboratory investigations
Amylase 55.9
Lipase 21.3

On 30th early morning she had an episode of fever with episode of vomting associated with pain in RUQ and jaundice. 
laboratory work up showed elevated TLC- 15000 and Tb- 6.0
On 31st, upon review by Gastroenterologist she developed cholangitis following which she was taken to OT and re stenting was done in KHL. 

5 comments:

  1. A brief summary also highlighting the diagnostic and therapeutic uncertainties :

    Recently a long distance patient 32F who has been having intermittent jaundice from childhood was recently found to have multiple gall stones some of which had slipped to the CBD and imaging also revealed a CBD stricture.

    She was managed with cbd stenting in Jan 2021 and it was removed in April and then in may she again developed symptoms of pain, fever, jaundice suggestive of cholangitis indicating persistent cbd stricture even after the stenting.

    Diagnostic uncertainty :

    She came to a gastro center in Hyderabad and they reinserted the CBD stent, took brush cytology that revealed benign cells and asked her to come back after a month for spy choledochoscopy, probably as they were still not sure if this was a benign stricture.

    However they may not have taken into account the fact that the patient also has thallasemia E and chronic hemolytic anemia with a spleen that we could palpate along with a hemoglobin that has never been more than 8g/dl. We thought it was a benign stricture and may not need a choledochoscopy unless it doesn't cost the patient to the extent quoted below.

    Therapeutic uncertainty :

    The spy choledochoscopy costs 1,50,000 Rs and it appears that in subsequent endoscopic management of benign cbd strictures one may need to undergo ercp stent placement every three months till the cbd gives in and remains dilated.

    So instead of putting the 1,50,000 into the choledochoscopy shouldn't the patient invest in a more permanent surgical procedure (that bypasses the cbd and attaches the intestine directly to the proximal end of the bile duct) that can be done in 25,000 by a competent surgeon at our medical college?

    ReplyDelete
  2. 10/9, 5:11 PM] Rashmita Rao Kims PG Medicine: Hemoglobin E (HbE) is an extremely common structural hemoglobin variant that occurs at high frequencies throughout many Asian countries. It is a β-hemoglobin variant, which is produced at a slightly reduced rate and hence has the phenotype of a mild form of β thalassemia

    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3405827/
    [10/9, 5:12 PM] Rakesh Biswas: What can be done about that problem in this patient?
    [10/9, 5:13 PM] Rakesh Biswas: What about her spy choledochoscopy? Is it necessary? Should we take a second opinion from LB Nagar Gastroenterologist? LB Nagar pgs to respond asap
    [10/9, 5:20 PM] Rashmita Rao Kims PG Medicine: One of the most striking features of HbE β thalassemia is its remarkable clinical heterogeneity. At one end of the spectrum, there are patients whose clinical course is almost indistinguishable from that of severe β-thalassemia major; whereas at the other end, there are patients who grow and develop normally without the need for blood transfusion, albeit often at a relatively low hemoglobin level.

    At birth, infants with severe HbE β thalassemia are asymptomatic because HbF levels are high. As HbF production decreases and is replaced by HbE at 6–12 months of age, anemia with splenomegaly develops. Signs of impaired growth appear during the first decade of life. The initial complaints vary from patient to patient, and several symptoms usually appear simultaneously (Table 2). Most common are the development of a mass in the left upper quadrant and pallor. With time and without transfusions, anemia, jaundice, hepatosplenomegaly, growth retardation, and thalassemic facies evolve.
    [10/9, 5:21 PM] Rashmita Rao Kims PG Medicine: As our patients both of them are normal they belong to one end of the spectrum.
    Their child has chance to inherit the HbE Beta thal and his clinical course alone will tell us is that severe or mild.
    [10/9, 5:26 PM] Rashmita Rao Kims PG Medicine: Jaundice, Gallstones, and Cholecystitis Some HbE β-thalassemia patients have severe and persistent jaundice in the absence of definable liver disease. It turns out that this is a result of the homozygous inheritance of the TA(7) allele of the promoter of the glucuronyltransferase 1 gene, a polymorphism that is particularly common in Sri Lanka (Premawardhena et al. 2001). These patients have a highly significant increase in the incidence of gallstones. Homozygosity for the TA(7) allele occurs in 10%–25% of some populations of Africa and the Indian subcontinent but at a much lower frequency in Southeast Asia (Premawardhena et al. 2003). Stones are found in approximately 50% of HbE β-thalassemia patients in Thailand (Chandcharoensin-Wilde et al. 1988). For the detection of biliary calculi, ultrasonography is more sensitive than oral cholecystography and plain abdominal films. Cholecystitis and ascending cholangitis may occur with abdominal pain, fever, and increasing jaundice (Vathanopas et al. 1988).

    ReplyDelete
  3. 10/9, 5:39 PM] Rashmita Rao Kims PG Medicine: Secondary study endpoints were the sensitivity and specificity of the cholangioscopically guided biopsies. A total of 96% of the biliary strictures were reached endoscopically using the cholangioscopic catheter and provided sufficient visualization. Additional tissue acquisition was possible in 88% of the cases[7].

    In his pilot study, researchers was able to clearly show in 35 patients that SpyGlass not only ensures reaching the lesions but also allows for sufficient macroscopic evaluation of findings with a sensitivity of 100% and specificity of 77%. In an additional SpyGlass-guided biopsy a sensitivity of 71% and specificity of 100% were achieved, both significantly superior to brush cytology results[30].


    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3653018/
    [10/9, 5:40 PM] Rashmita Rao Kims PG Medicine: To date, the prediction of dignity for indistinct bile duct lesions in clinical practice are a difficult endeavour and mean a true diagnostic challenge to all disciplines involved. Neither retrograde contrast imaging of the bile duct endoscopic retrograde cholangiopancreatogram (ERCP) nor other imaging procedures allow for a safe diagnosis of the type if biliary duct findings are inconclusive like the ones experienced with strictures or intraluminal defects[1]. Even with steadily improved endosonography and the use of microprobes enhancing bile duct lesion imaging, a number of limitations set by these investigation methods are still to overcome[2]. Choledochoscopy may be a direct diagnostic procedure to help in macroscopically assessing inconclusive lesions inside the biliary duct system.
    [10/9, 5:44 PM] Rashmita Rao Kims PG Medicine: If they can afford it , macroscopic visualisation of the stricture and tissue biopsy is better.
    It is superiour than brush cytology.
    Or we can wait and see the clinical progresion of the bening cells?

    ReplyDelete
  4. 10/9, 6:32 PM] Rashmita Rao Kims PG Medicine: But how can we explain her current stricture sir?
    [10/9, 6:34 PM] Rakesh Biswas: Look up common hepatic duct or even intrahepatic gall stones in chronic hemolysis
    [10/10, 1:22 PM] Rakesh Biswas: 2016 : marriage

    JAN 19 : 8th month POG - Yellowish discoloration of eyes decresed with treatment

    7/4/19 : child birth

    AUG 2020 : pain abdomen , vomiting , Yellowish discoloration of eyes

    20/10/20 : MRCP

    29/10/20 : ERCP+CBD Stenting

    JAN 2021 : Cholecystectomy

    FEB 2021 : CBD stent removal

    MAY 2021 : Pain abdomen for 1 day which decresed with treatment

    JUNE 2021 : Pain abdomen for 1 day which decresed with treatment

    JULY 2021 : Pain abdomen for 1 day which decresed with treatment

    SEPTEMBER 2021 : Pain abdomen for 1 day which decresed with treatment

    OCTOBER 2021 : Pain abdomen
    MRCP + ERCP + CBD Stenting
    [10/10, 1:24 PM] Rakesh Biswas: Current patient in Super ward. From our interaction yesterday I feel she mentioned she had jaundice even before marriage when in school.
    Her current problems of biliary stricture are perhaps a result of her chronic hemolytic anemia as evidenced by the study here https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3977003/

    ReplyDelete
  5. 10/10, 1:29 PM] Rakesh Biswas: This ��https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3405827/ is her actual disease and her current problem is due to its complication
    [10/10, 6:37 PM] Rakesh Biswas: Thanks Pavani please add the clinical images and ask the PGs to help you to insert a few representative sections from her radiological images of MRCP and ercp and cytology reports
    [10/10, 6:42 PM] Rakesh Biswas: Check out the format of writing a case report as here https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-021-02974-4
    [10/11, 3:12 PM] Nikita KIMs PG Med: https://www.researchgate.net/publication/270765320_Endoscopic_Treatment_of_Patients_with_Bile_Duct_Stricture_After_Cholecystectomy_Factors_Predicting_Recurrence_in_the_Long_Term
    [10/11, 3:12 PM] Durga Krishna 2020 kims Med Pg: The study group included 156 patients. Themedian follow-up period after stent removal was 6.5 years(range 1–16.5). Recurrence was seen in 18 patients (11 %)after a median duration of 9 months (range 2–96). Multi-variate regression analysis revealed that the most importantfactors predicting the success of endoscopic treatmentwere: Rome type of treatment (inserting increasing numberof stents every 3–4 months) (odds ratio 23.8, 95 %CI1.46–390.7, p=0.026) instead of Amsterdam-type treat-ment (replacing two 10F biliary stents every 3–4 months)and dilation of the stricture diameter to at least 76 % of thecommon bile duct diameter at the end of stent treatment(odds ratio 25.9, 95 % CI 2.46–272.7, p=0.007).Conclusions Endoscopic treatment is an effective methodin the treatment of patients with bile duct stricture aftercholecystectomy. Inserting multiple stents as much as pos-sible without leaving a scar in the bile ducts should be aimed
    [10/11, 4:51 PM] Karnati Vaishnavi KIMs Med PG: https://jamanetwork.com/journals/jamasurgery/fullarticle/390514

    Management of Benign Biliary Strictures
    Biliary Enteric Anastomosis vs Endoscopic Stenting :

    tectomy stricture and a follow-up longer than 60 months. Twenty of these patients were treated with endoscopic stenting and 22 with surgery (hepaticojejunostomy, choledochojejunostomy, or intrahepatic cholangiojejunostomy).

    Main Outcome Measures Postoperative mortality and morbility and long-term outcome. The rate of restenosis was also determined.

    Results Morbidity occurred more frequently in patients treated with endoscopic procedures than with surgical ones (9 vs 2; P = .34). Hospital mortality was 0%. Surgery achieved excellent or good long-term outcome in 17 of 22 patients. Endoscopic biliary stenting was successful in 16 of 20 patients. Overall, excellent or good outcomes were achieved in 34 patients (81%).

    Conclusion The ability to achieve steady, long-term results confirms hepaticojejunostomy as the best procedure in the treatment of benign biliary strictures, even if endoscopic procedures are gaining a new role in the treatment of a greater number of patients.

    In patients treated with endoscopy, the procedure was performed after obtaining visualization of the biliary tree by endoscopic retrograde cholangiography.
    Stent exchange was performed routinely but was considered only if clinically necessary for cholangitis, dislocation, or clogging or for clinically evident cholestasis.
    In patients treated with surgery, the restoration of biliary enteric continuity was achieved with a defunctionalized Roux-en-Y jejunal loop by means of hepaticojejunostomy, choledochojejunostomy, or intrahepatic cholangiojejunostomy.
    Follow-up was accomplished by trimonthly clinical examinations, ultrasonographic liver scans, and biochemical tests for liver function and cholestasis.

    ReplyDelete