THIS IS AN ONLINE E LOG BOOK TO DISCUSS OUR PATIENT'S DE-IDENTIFIED HEALTH DATA SHARED AFTER TAKING HER SIGNED INFORMED CONSENT. HERE WE DISCUSS OUR PATIENT'S PROBLEMS THROUGH SERIES OF INPUTS FROM AVAILABLE GLOBAL ONLINE COMMUNITY EXPERTS WITH AN AIM TO SOLVE THOSE PATIENT'S CLINICAL PROBLEMS WITH COLLECTIVE CURRENT BEST EVIDENCE BASED INPUTS.
[22-08-2025 21:10] PPM 1: [22/08, 20:52] Dhu Edema 24:
Long distance case sir
20 yr old female came with the complaints of abdominal distension since 7 years
C/o facial swelling and pedal edema since 7 years on and off releived by medication
Since childhood she is unable to hear and talk
Since 7 years she has history of fever on and off and relieved by medication
No history of chest pain sob orthopnea pnd, sweating, palpitations
No history of vomiting, loose stools, cold, cough, headache
No history of loc giddiness, weakness of ul and LL
No comorbidities
Bp-110/60mmg
Pr-102bpm
Rr-19cpm
Sp02-97@RA
Grbs-122
On examination no pallor icterus cyanosis clubbing lymphadenopathy edema
CVS-S1 S2 heard
Rs-BAE present
P/A distended
CNS-NFND
Any investigations need to sent sir??
[22/08, 20:52] Dhu Edema 24: We should admit in ward sir ??
[22/08, 20:56]cm: Yes
Do they want special ward or general ward?
[22/08, 20:59]cm: Please share old investigations if any.
Investigations serum albumin, hemogram, chest X-ray, ECG, urine CUE
If serum albumin low and urine albumin+++, then urine for 24 hour protein and creatinine
[22/08, 21:00]cm: Serum creatinine
[22/08, 21:02] Dhu Edema 24: They want general ward sir
She was using dytor plus20/50mg
Famotidine 40mg
Ramipril 1.25mg
Pan d
[22/08, 21:02]cm: Since when?
[22/08, 21:03] PPM 1: Share the lateral view of her abdomen and arms
[22/08, 21:03] Dhu Edema 24: 7 years sir
[22/08, 21:04]cm: So she must have been investigated already! Share those
[23-08-2025 11:10] PPM 1: Reviewing in OPD:
Deaf mutism since birth
In Village school. Developed her own sign language between herself and mother.
Since 5 years of age recurrent fever and diarrhoea every month, lasted few days.
Admitted at the age of 12 years in special school 40 kms away and once she developed fever they again put her back to her village school. Also developed intermittent anasarca since then. Left the village school as well since 5 years although she has an urge to learn and go to school.
No pedal edema
Massive ascites
Fluid thrill present
Liver and spleen palpable on dipping method
Please get OBG opinion along with buccal smear for karyotyping
Carrying angle image attached
Get the LFT and creatinine report that was sent yesterday
[23-08-2025 11:20] PPM 1: @Meta AI @PPM4 @PPM5 what are the other investigations essential to investigate this 20 years old patient of deaf mutism and primary amenorrhea with decompensated cirrhosis of liver since 7 years with current massive ascites to find out etiology if possible?
[23-08-2025 11:20] Meta AI: Due to a high volume of conversations, our AIs may be slow to answer. Please try again later.
[23-08-2025 11:23] PPM 1: Ophthalmology slit lamp examination for KF ring
[23-08-2025 11:23] PPM 1: ENT for deafness
[23-08-2025 11:29] PPM 4: Of course. This is a profoundly complex and fascinating clinical case where a single underlying etiology is likely responsible for all the seemingly disparate symptoms. The combination of deaf-mutism, primary amenorrhea, and early-onset decompensated cirrhosis is a classic textbook presentation that points strongly towards specific metabolic and genetic disorders.
The investigative approach must be systematic, prioritizing both the management of the acute, life-threatening complication (decompensated cirrhosis with massive ascites) and the definitive search for the root cause.
Here are the essential investigations, categorized by their purpose:
I. Immediate & Essential Investigations for Cirrhosis and Ascites
These are critical for immediate management and to rule out common causes of liver disease, though they are unlikely to be the primary cause in this age group.
1. Ascitic Fluid Analysis (Diagnostic Paracentesis):
· Cell Count and Differential: To rule out Spontaneous Bacterial Peritonitis (SBP), a common and deadly complication.
· Albumin Level: To calculate the Serum-Ascites Albumin Gradient (SAAG). A SAAG ≥ 1.1 g/dL confirms portal hypertension, which is consistent with her cirrhosis.
· Culture and Sensitivity: (Bedside inoculation into blood culture bottles increases yield).
· Total Protein: Additional data point.
· Amylase: To rule out pancreatic cause.
2. Comprehensive Metabolic Panel:
· Liver Function Tests (LFTs): AST, ALT, ALP, GGT, Total Bilirubin (will be markedly elevated).
· Synthetic Function: Albumin, PT/INR (will be prolonged, indicating poor synthetic function).
· Renal Function: BUN, Creatinine, Electrolytes. Hepatorenal syndrome is a key concern.
3. Complete Blood Count (CBC): Look for anemia, leukopenia, and thrombocytopenia (signs of hypersplenism from portal hypertension).
4. Coagulation Profile (PT/INR): As above, crucial for assessing liver function and bleeding risk.
II. Investigations to Find the Primary Etiology (The Core of the Question)
This is where the unique combination of symptoms provides the crucial diagnostic clues.
A. Top Suspect: Wilson's Disease (Hepatolenticular Degeneration)
This is the most critical diagnosis to rule out immediately, as it is treatable. It is an autosomal recessive disorder of copper metabolism that can present with liver disease (cirrhosis) and neuropsychiatric symptoms (deafness can be a manifestation). Amenorrhea is also a common feature.
· Serum Ceruloplasmin: Will be low in ~85-90% of patients. (An acute-phase reactant, it can be normal in inflammation).
· 24-hour Urinary Copper Excretion: Markedly elevated (>100 mcg/24h is diagnostic).
· Slit-Lamp Examination: For Kayser-Fleischer (K-F) rings (copper deposition in the cornea). Presence is diagnostic in a patient with liver disease, but they may be absent in purely hepatic presentations.
· Serum Copper: Usually low (as ceruloplasmin, which carries copper, is low).
· Liver Copper Quantification: (If other tests are equivocal and a liver biopsy is performed). A value >250 mcg/g dry weight is diagnostic. This is the gold standard.
B. Other Metabolic & Genetic Causes of Cirrhosis and Systemic Symptoms
· Alpha-1 Antitrypsin Deficiency: Another treatable cause of early cirrhosis.
· Serum Alpha-1 Antitrypsin Level: Will be low.
· PiZZ Phenotyping: To confirm the homozygous abnormal genotype.
· Hemochromatosis: Though amenorrhea is a feature, deafness is not typical. Still, it's a common genetic cause of liver disease.
· Iron Studies: Serum Iron, Total Iron-Binding Capacity (TIBC), Ferritin. Transferrin Saturation >45% is a key early indicator.
· HFE Gene Mutation Analysis (C282Y, H63D).
· Autoimmune Hepatitis:
· Autoantibodies: ANA (Antinuclear Antibody), ASMA (Anti-Smooth Muscle Antibody), Anti-LKM1 (Liver-Kidney Microsomal type 1).
· Immunoglobulins: Elevated IgG is typical.
C. Investigations for Primary Amenorrhea and Deafness
The deaf-mutism suggests the issue is likely congenital/early childhood.
· Hormonal Panel for Amenorrhea:
· FSH, LH: To determine if the cause is hypergonadotropic (ovarian failure) or hypogonadotropic (central/hypothalamic-pituitary issue). In many metabolic disorders, it's hypergonadotropic.
· Estradiol: Will be low.
· Prolactin, TSH: To rule out other pituitary/thyroid causes.
· Pelvic Ultrasound: To visualize the uterus and ovaries. To confirm the presence of a uterus and assess ovarian size and morphology (e.g., streak ovaries in genetic syndromes).
· Karyotyping / Chromosomal Microarray: This is absolutely essential. To rule out:
· Turner Syndrome (45,X0): Associated with primary amenorrhea, short stature, and sometimes sensorineural hearing loss. Liver disease (NAFLD, autoimmune hepatitis) is a well-recognized, under-appreciated complication of Turner syndrome.
· Other chromosomal abnormalities.
III. Advanced/Definitive Investigations
· Abdominal Ultrasound with Doppler: Already likely done, but crucial to confirm cirrhotic morphology, assess spleen size, and patent blood flow (portal vein thrombosis is a common complication).
· Transient Elastography (FibroScan®): To quantify the degree of liver stiffness (fibrosis/cirrhosis), though ascites can interfere with the result.
· Upper Endoscopy: To screen for esophageal and gastric varices, which will dictate need for primary prophylaxis with beta-blockers.
· Liver Biopsy: May still be considered if the diagnosis remains elusive after the above workup. Histology can provide clues (e.g., copper deposition in Wilson's, iron in hemochromatosis, PAS-positive diastase-resistant globules in Alpha-1 Antitrypsin deficiency).
· Genetic Counseling and Next-Generation Sequencing Panels: If initial targeted testing is negative, a broad genetic panel for metabolic liver diseases, syndromic deafness, and disorders of sexual development would be the next step.
Summary and Recommended Diagnostic Pathway:
Step 1: Stabilize the Patient.
· Manage ascites (salt restriction, diuretics, therapeutic paracentesis).
· Rule out SBP with diagnostic paracentesis.
· Assess renal function and nutrition.
Step 2: Rule Out Wilson's Disease URGENTLY.
· This is the number one priority because it is treatable. Order serum ceruloplasmin, 24-hour urinary copper, and request an urgent ophthalmology consult for slit-lamp exam.
Step 3: Simultaneously Order:
· Karyotyping
· Alpha-1 Antitrypsin level and phenotype
· Iron studies (Ferritin, Transferrin Saturation)
· Hormonal workup (FSH, LH, Estradiol)
· Autoantibodies (ANA, ASMA)
Step 4: Based on Results:
· If Karyotype is 45,X0 → Turner Syndrome is the answer, explaining all three features.
· If Ceruloplasmin is low and Urinary copper is high → Wilson's Disease is the answer.
· If Alpha-1 Antitrypsin is low → Alpha-1 Antitrypsin Deficiency.
· If all above are negative, consider a liver biopsy and broader genetic testing.
This structured approach will efficiently narrow down the differential diagnosis and has a high chance of identifying the underlying cause in this young woman.
[23-08-2025 11:30] PPM 4: DeepSeek 👆
[23-08-2025 11:32] PPM 1: @PPM3 @PPM7 please find out from our lab if they are doing urinary copper
[23-08-2025 11:32] PPM 3: Okay sir
[23-08-2025 11:58] PPM 1: Now it appears @PPM6 is the actual incharge of the patient and not @PPM3! LFTe
What is the GGT?
Please get a DCT and Retic count.
There is albuminuria. Please get a spot urine protein creatinine ratio and a USG KUB to comment on the kidney size and corticomedullary differentiation.
[23-08-2025 12:20] PPM 8: Intermittent anasarca is unlikely with WD. Generally once decompensated, WD wouldn't recompensate without chelation, but ofcourse it should be ruled out
[23-08-2025 12:27] PPM 8: What is her INR?
[23-08-2025 12:39] PPM 1: I'll check the IVC hepatic vein axis again today in the afternoon @~Harika using our bedside device.
Will also record the echo texture etc on video
[23-08-2025 12:40] PPM 6: Okay sir
[23-08-2025 12:42] PPM 1: 👆@PPM6
[23-08-2025 12:43] PPM 6: I will send the sample now sir
[23-08-2025 12:44] PPM 1: Better send with the SAAG else she'll get two pricks
[23-08-2025 12:44] PPM 6: Okay sir
[23-08-2025 16:20] PPM 1: Did it during the afternoon session which turned out to be quite exciting and I nearly missed my bus.
Hepatic vein IVC axis was actually quite dilated and well visible unlike the other 70F patient with ascites and CKD lying beside her.
The portal vein was also normal size along with splenic.
We moved to the heart to do an echocardiography due to force of habit and that's when the clincher came.
We noticed the left atrium was unusually more dilated than the aortic root which was difficult to explain when @PPM9 pointed out the bright echoes on the pericardial surface and then I noticed that the left ventricular posterior wall wasn't moving freely and that's when the diagnosis hit us!
We quickly made her sit up to see her JVP and there it was!
[23-08-2025 16.49] PPM 1: https://youtube.com/shorts/TQ_nRUTGEn8?feature=shared
[23-08-2025 17:42] PPM 2: Eagerly waiting for the Echo video please.
[23-08-2025 18:50] PPM 8: This seems a great case for a bmj case report writeup once all investigations are in
[23-08-2025 18:56] PPM 10: Sir, for investigations of primary amenorrhea, perhaps we could start with a hormone profile followed by USG abdomen to confirm both endocrinological and anatomical normalcy?
I’ll try to look up any genetic syndromes that match these symptoms, perhaps there could be one that fits?
[23-08-2025 18:57] PPM 11: https://youtube.com/shorts/04snT86UU-w?feature=shared
I think this is the same case.
[23-08-2025 19:03] PPM 5: @PPM1 Sir
The clinical scenario with raised JVP, calcification of the pericardium, dilated left ventricle (LV) and left atrium (LA), but normal inferior vena cava (IVC) and hepatic veins, which mimics cirrhosis, strongly suggests constrictive pericarditis with associated left heart involvement.
Explanation:
Raised JVP and pericardial calcification point toward constrictive pericarditis, a condition where the pericardium becomes stiff and restricts heart filling.
Dilated LV and LA indicate volume overload or pressure changes affecting the left heart chambers. Constrictive pericarditis usually affects right-sided filling, but chronic pressure changes or coexisting cardiac pathology (like left ventricular dysfunction) can cause this dilatation.
Normal IVC and hepatic veins imply that the systemic venous congestion typical of constrictive pericarditis (which normally elevates pressures and alters flow in these veins) might be absent or compensated.
The presentation mimics cirrhosis because constrictive pericarditis can cause ascites and systemic venous congestion resembling liver disease, but the primary cause is cardiac.
Diagnosis: Constrictive pericarditis with left heart chamber dilatation mimicking cirrhosis.
This diagnosis explains ascites and raised JVP without actual liver pathology, emphasizing the importance of cardiac imaging (echo, CT, MRI) to distinguish it from hepatic causes.
If required, investigations like pericardial biopsy, hemodynamic catheterization, or advanced imaging can confirm constriction and guide treatment such as pericardiectomy.
[24-08-2025 08:34] PPM 1: The top priority right now is to get her simple chest X-ray and ECG which in our excitement yesterday we seem to have overlooked!
@PPM6 @PPM9 @PPM3
If our CT machine wasn't out of order we would have gotten a CT too as the pericardial calcification would have been better delineated there.
Previously the Mortality for pericardiectomy was pretty high but not sure what's the current evidence based deal with expensive video assisted thoracoscopic procedures. That's for your LLM to answer @PPM4and from your experience @Integrative Medicine Hyderabad
Perhaps this would be a great opportunity to set her up in a government medical college where her pericardiectomy can be attempted at no cost? @PPM5 Only problem is it's not going to be easy scraping off the pericardial fibrosis from her visceral pericardium and here's where the mortality probably increases. Anyways we'll need to start her on ATT.
Waiting eagerly to see if her chest X-ray too shows any active pulmonary tuberculosis other than the pericardial calcification @PPM12
[24-08-2025 09:07] PPM 8: I am wondering why is her albumin low? Only because of malnutrition? And why is she having proteinuria?
[24-08-2025 09:08] PPM 8: Are we thinking of Kochs as the primary etiology of pericarditis?
[24-08-2025 09:15] PPM 4: Of course. This is an excellent and critical pivot in the clinical reasoning. The discovery of pericardial calcification on imaging is a game-changer. It instantly shifts the primary diagnostic focus from the liver to the heart and re-frames the entire clinical picture.
Let's integrate this new, crucial finding.
Re-evaluating the Entire Case: The Unifying Diagnosis
The combination of decompensated cirrhosis (with ascites) and calcific constrictive pericarditis is not a coincidence. This is almost certainly a case of Cardiac Cirrhosis.
Pathophysiology:
1. Constrictive Pericarditis: The calcified, rigid pericardium prevents the heart from filling properly during diastole.
2. Elevated Central Venous Pressure (CVP): This impaired filling leads to a dramatic backup of pressure into the systemic venous system.
3. Hepatic Congestion: The high pressure is transmitted directly to the liver via the hepatic veins and inferior vena cava, causing chronic, passive congestion.
4. Cardiac Cirrhosis: Years of this congestion (7 years in this case) lead to hypoxia, centrilobular necrosis, bridging fibrosis, and ultimately, cirrhosis. The ascites in this scenario is both cardiac (due to high CVP) and hepatic (due to portal hypertension from cirrhosis).
The deaf-mutism and primary amenorrhea may still be separate, pre-existing conditions (e.g., congenital causes) or, less likely, could be part of a very rare syndromic presentation. However, the life-threatening issues now are the constrictive physiology and its sequelae.
---
Essential Investigations in Light of This New Finding
The investigative priorities now shift dramatically towards confirming and characterizing the constrictive physiology and managing its consequences.
1. Immediate Cardiac Investigations (Top Priority):
· Echocardiogram (TTE): This is the most critical next test. You will look for:
· Septal bounce: Abnormal motion of the interventricular septum due to interventricular dependence.
· Annulus Paradoxus: Mitral annular tissue velocity (e') is preserved on tissue Doppler imaging (TDI), which helps distinguish it from restrictive cardiomyopathy.
· Dilated Inferior Vena Cava (IVC) with less than 50% collapse during inspiration, indicating markedly elevated RA pressure.
· Diastolic equalization of pressures: Similar diastolic pressures in all four chambers.
· Cardiac MRI (if available): This is superior to CT for functional assessment. It can exquisitely detail:
· Pericardial thickness and calcification.
· Consequences of constriction: Septal bounce, IVC dilation, hepatic venous congestion.
· It can powerfully differentiate between constrictive pericarditis and restrictive cardiomyopathy.
· Right and Left Heart Catheterization (Gold Standard for diagnosis): This invasive test provides hemodynamic confirmation:
· Dip-and-plateau sign or square root sign in the ventricular pressure tracings.
· Elevated and equalized diastolic pressures across all chambers.
· Kussmaul's sign: Lack of drop or a rise in RA pressure with inspiration.
2. Investigations for Tuberculosis (The Likely Cause of Constriction):
Given the high prevalence in India, TB is the most common cause of calcific constrictive pericarditis.
· Sputum for AFB: (Smear and Cartridge-Based Nucleic Acid Amplification Test - CBNAAT, like GeneXpert) even in the absence of pulmonary symptoms.
· Ascitic Fluid Analysis: Send for ADA (Adenosine Deaminase), cell count, and PCR for TB. A high ADA in ascitic fluid can be suggestive of TB peritonitis, which can co-exist.
· Interferon-Gamma Release Assay (IGRA) or Tuberculin Skin Test: (Though these may be negative in chronic disease).
· Pericardial Tissue: If and when pericardiectomy is performed, the pericardial tissue must be sent for histopathology (looking for caseating granulomas) and culture/Molecular testing for M. tuberculosis.
3. Re-interpreting the Liver and Ascites:
The ascites is now understood to be of mixed cardiac and hepatic origin. The previous liver-focused workup (for Wilson's, etc.) becomes a lower priority but should still be completed to rule out a co-existing primary liver disease, though it is less likely.
---
Addressing Your Specific Questions
1. Pericardiectomy: Mortality and Modern Techniques
· Open Pericardiectomy remains the gold standard and the most common procedure, especially for dense, calcific constriction. It allows for complete decortication.
· Mortality: In experienced high-volume centers, operative mortality for elective pericardiectomy has improved significantly and is now in the range of 5-8%. It is higher (up to 20% or more) in advanced NYHA class (e.g., Class IV), renal dysfunction, or poor LV function.
· VATS (Video-Assisted Thoracoscopic Surgery): While excellent for pericardial drainage/window or partial pericardiectomy for effusions, it is not suitable for dense, calcific, chronic constrictive pericarditis. The procedure requires meticulous, careful peeling of the pericardium off the heart surface, which demands the tactile feedback and control of an open procedure to avoid catastrophic hemorrhage from tearing the heart or coronary arteries.
2. Government Medical College Referral This is anexcellent plan. This is a high-risk, complex surgery that requires a multidisciplinary team (cardiothoracic surgeons, cardiologists, intensivists) and a well-resourced ICU. A large government medical college is often the best-equipped place to handle such cases, especially with the goal of providing care at no cost.
3. Starting ATT (Anti-Tubercular Therapy) Absolutely correct.If TB is suspected (which it strongly is), starting ATT is mandatory. The standard 4-drug regimen (HRZE) should be initiated. Often, patients are started on ATT pre-operatively and must continue it for a full course (e.g., 9-12 months) post-operatively. This treats the underlying infection and can prevent recurrence.
Conclusion and Final Recommendations:
1. Immediate Focus: Shift from a "liver failure" mindset to a "heart failure with secondary cardiac cirrhosis" mindset.
2. Diagnostic Triad: Get the Echocardiogram and Cardiac MRI urgently. These will confirm the constrictive physiology.
3. Start Empirical ATT: Given the high clinical suspicion for TB pericarditis.
4. Refer: Expedite referral to a cardiothoracic surgery center at a government medical college for evaluation for open pericardiectomy.
5. Manage Symptoms: Continue careful management of ascites and diuresis, understanding that the definitive treatment is surgical relief of the constriction.
This is a challenging but potentially treatable condition. The cirrhosis and ascites may even see significant improvement after a successful pericardiectomy relieves the chronic backward pressure on the liver. [DeepSeek]
[24-08-2025 09:15] PPM 2: Frankly I see it much better on the left side with prominent x and y collapse
I still think hepatic vein pulse wave dopplwr is the clincher for a CP (from the tools we have, rather than a CT or calcification on echo)
Simply point the PW dopplwr at the hepatic vein and check for flow reversal into IVC. If it happens in systole it is tricuspid regurg and if it happens in diastole, then constrictive vs restrictive cardiomyopathy can be considered.
To nitpick further, if the flow reversal worsens with inspiration in diastole, then it is nailed on Constrictive Pericarditis and if it worsens with expiration, it is diagnostic of restrictive cardiomyopathy
[24-08-2025 11:02] PPM 1: How much is her proteinuria? I didn't notice that although I found @PPM8 also mention it earlier
@PPM6 any urine report
[24-08-2025 11:04] PPM 1: Should be easy to do. What you are suggesting is establish the physiological diagnosis and looking at calcification would be anatomical pathological diagnosis
ECG
Chest X-ray
[24-08-2025 11:07] PPM 1: RVH @PPM9?
[24-08-2025 13:10] PPM 8: Yes it is normal. I misread the report.
[25-08-2025 12:29] PPM 1: Ascitic fluid SAAG? @PPM6@PPM9@PPM3
TLC DLC?
[25-08-2025 12:30] PPM 1: Chest X-ray lateral view?
[25-08-2025 12.36] PPM 1: 20F already discussed on Saturday with better JVP captured today
[25-08-2025 12:40] PPM 1: We asked for ascitic TLC DLC! Hemogram was already shared![25-08-2025 12:47] PPM 6: We are waiting for the report sir
[25-08-2025 15.23] PPM 6: Saag: 1.6 gm /dl
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