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Shehryar parvez

on 9 October 2013

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Transcript of CASE

A 21-year old female resident of Badami Bagh Lahore,presented to Emergency Department with complains of:

DR. SHEHRYAR PARVEZ (PGR-I Internal Medicine)
On the eve of 25th MAY, 2013...
c) Pain in abdomen for 1 day.

a) Nausea and Vomiting for the last 3 days.

b) Loose stools for the last 3 days.

- The patient had about 4 episodes of vomiting, containing a cupful of gastric contents including what
so ever she had eaten previously. It did not contain blood or bile.
History of Presenting Illness
- Loose stools, About 3-4 episodes of watery stools per day, not containing mucus, blood or
undigested food material.
- Abdominal Pain was severe, 7-8 on pain scale, more at hypogastrium and left iliac fossa region, aching in quality, relieved by laying down, and exacerbated by movements.
In the review of systems;

Dyspnea on exertion [on/off]
Generalized Weakness[on/off]

There were no complains of;
Cough, Orthopnea, PND, Trepopnea.
Chest pain on exertion.
Chronic altered bowel habits.
Fatiguable weakness in a muscle group.

There were no urinary complains.

PMH/PSH/Previous Hospitalizations/Allergies

The patient was a known case of some BLEEDING DIATHESIS. The attendants who accompanied the patient to E.R were not sure which it was.
There was no history of Hypertension/Diabetes/Asthma/Tuberculosis/Chronic Hepatitis/Endocrine Diseases
She had been admitted 2 years back under Department of OB-GYN for an ovarian cyst, where she was managed conservatively and discharged. No record was available
There was no history of any SURGERY.
Social History
Single Female.
The patient belonged to a middle class family.
There was no history of Smoking or any substance abuse
She had Allergic reaction with Pruritis to FFPs in the past.
Family History
A family history of:

in both Paternal and Maternal Family

And Asthma in Maternal Side

A younger sibling was also known to have a bleeding diathesis and had been taking consultations from Haematology Department at FMH.
A young lean female, looking pale and in some distress well oriented in time, place and person.
Vitals included
Heart Rate 102/min, regular
Oxygen Saturation of 99% on Ambient Air
BP 95/70mmHg which came down to 85/65mmHg later
Respiratory Rate 24
On general review she was markedly pale, cold, with no Edema or Clubbing
CVS: S1 + S2 + no added or abnormal heart sounds
Respiratory System: Normal Vesicular Breathing + no abnormal sounds

Abdomen: Soft, Mildly tender all over with more tenderness in Periumbilical/Hypogastric Regions and Bowel Sounds were audible.

CNS: Intact
The differential diagnosis included...

- Acute Appendicitis?

- Ruptured Ovarian Cyst with hemorrhage in peritoneum?
- Acute Gastroenteritis?
- Some Bleeding Diathesis
Send CBC/ESR, APTT/PT/INR, BT, CT, S/fibrinogen, FDPs, S/Creatinine, S/Electrolytes,
S/ALT, Urine Complete, XRAY ABDOMEN-erect and supine.
I/V Normal Saline 1000ml @ 100ml/hr
Injection Gravinate 50mg I/V TiD
Injection NALBIN 1mg I/V SOS
Injection OXIDIL 1gm I/V BiD
Injection Flagyl 500mg I/V TiD
Ultrasound Abdomen/Pelvis was done in E.R. The report showed "Debrinous Fluid around Ovaries and Uterus with approximate volume of 300ml"
In the meanwhile the family had produced OLD RECORD.
Interestingly, the patient was found to be a known case of FACTOR-I Deficiency / AFIBRINOGENEMIA!
Call to Hematology/Surgery/Gynecology department.
A consultation from Haematology Department was sought.

They agreed with the plan and planned to visit the patient in the morning.
Frequent Laying and Sitting BP monitoring to check for ORTHOSTASIS - Blood Loss
The patient was shifted to GICU
CBC showed;
Hb 9.0gm/dL
WBC 6.31 x 10^3
Platelets 223 x 10^3

Serum Potassium 3.3 mmol/L
Serum Creatinine 0.7 mg/dL
S/ALT 16
APTT and PT were not available as the sample did not clot!
Serum Fibrinogen: Undetectable (Normal Value: 180-400mg/dL)
Urine Exam was within normal limits
It was then planned to arrange 3 to 4units of FFPs and 1 unit of Whole blood and transfuse. After that resend APTT/PT/INR and Serum Fibrinogen levels.
Since the Blood Pressure was on lower side, a 500ml bolus of Normal Saline
was given followed by Regular Fluid Normal Saline @ 125ml/hr with strict
input/output recording.
Due to affordability issue, not all labs could be done on time.
In the morning repeat labs showed:

APTT 33 against a control of 33
PT 20 against control of 13 with INR 1.43
Serum Fibrinogen 0.80

No active intervention required.
Ovulation Suppression from next cycle for

-Transfuse 2 units FFP x 2days
-Gynecology review for starting hormone
The patient had one episode of Blood in
stool during stay.
A repeat USG was done after 2 days which showed approx 100ml of fluid in abdominal cavity, resolving hemoperitoneum.
Hepatitis B and C status was confirmed by ELISA and patient was advised to get vaccinated for HEP-B as she was high risk for acquiring infection
A total of 7 FFPs and 1 Whole Blood were transfused during stay of 3 days
She was called on followup in Gynecology OPD 1 week after discharge.
Hematology department also advised to get 2 FFPs transfused 1 week after discharge and followup.
She was discharged on 28th of May.
Factor I (Fibrinogen)
and Related Disorders
The coagulation pathway...
Our understanding of blood clotting is intimately tied to the history of civilization.
With the advent of writing 5000 years ago, it could be argued that the first symbols used for blood, bleeding or clotting represented the first published coagulation pathway.
The ancient people of the world always held blood in utmost mystical esteem. Through the ages, this esteem has been transmitted to modern times in many expressions that use BLOOD, such as "Blood is thicker than water", "blood of our fathers", and so on....
With the creation of vertebrates and their pressurized circulatory system, there had to arise a method to seal the system if injured - hence the hemostatic system.
The figure illustrates the three major constituents of HEMOSTATIC SYSTEM
FACTOR I - Fibrinogen
FACTOR II - Prothrombin
FACTOR V - Labile Factor
FACTOR VII - Proconvertin
FACTOR VIII - Antihemophillic factor
FACTOR IX - Christmas Factor
FACTOR X - Stuart Prower Factor
FACTOR XII - Hageman Factor
FACTOR XIII - Fibrin Stabilizing factor
So how does it work?

Negatively charged surface
of damaged Blood Vessels
Extrinsic Pathway
Called Intrinsic because it uses components
from blood only!
Tissue Factor (FACTOR III) Pathway
Called Extrinsic because it uses Tissue Factor
released from damaged tissue
Lots of


using THROMBIN from previous steps...
Fibrinogen circulates in plasma at a concentration of approximately
180mg/dL to 400mg/dL
It has numerous functional interactions and plays a pivotal role in homeostatic balance

a) Substrate for Fibrin Clot
b) Binds to platelets to support platelet aggregation
c) Has a role in wound healing
d) The fibrin clot is a template for both thrombin binding and fibrinolytic system.
While the finding of low fibrinogen is commonly seen as a result of acquired disorders such as ACUTE D.I.C, the presence of abnormal fibrinogen is a rare condition!
Fibrinogen disorders can be classified as

B) Congenital and Acquired;
where TYPE I are Quantitative defects
and TYPE II are Qualitative defects
A) Quantitative or Qualitative
i) Dysfibrinogenemia: Presence of dysfunctional fibrinogen molecules
ii) Hypodysfibrinogenemia: Inherited fibrinogens that are functionally abnormal as well as associated with low levels <150mg/dL
iii) Hypofibrinogenemia: Associated with low circulating fibrinogen levels
that is <150mg/dL
iv) Afibrinogenemia: rare disorder with complete lack of fibrinogen
v) Cryofibrinogenemia: A phenomenon in which there is the presence
in plasma that precipitates on exposure to low temperatures.
Clinical Manifestations
Afibrinogenemia is often diagnosed in the newborn period because of umbilical cord bleeding.

Hypofibrinogenemia is associated with fewer bleeding episodes and may not be diagnosed until a traumatic or surgical challenge occurs.

Dysfibrinogenemias are commonly diagnosed in adulthood
Afibrinogenemia is associated with a bleeding tendency, which is highly variable including life-threatening and spontaneous/trauma-related bleeds. Bleeding can start in the neonatal period with 85% presenting with umbilical cord bleeding or bleeding into the skin, gastrointestinal (GI) tract, genitourinary tract or central nervous system (CNS) (5%)
In Hypofibrinogenemia the patients have similar bleeding
patterns but have a milder course and may follow
invasive procedures or major trauma largely exceeding
spontaneous events (80% vs. 20%)
Dysfibrinogenemia the patients have an unpredictable clinical phenotype. A compilation of 250 patients revealed asymptomatic patients (53%),
bleeders (26%) and clotters (21%) some of whom also had bleeding.

Hans M, Biot F. A database for human fibrinogen variants. Ann N Y Acad Sci 2001; 936: 89–90.
In females, normal menses, menorrhagia (7%), menometrorrhagia, first-trimester abortions, ante-partum and postpartum haemorrhage, hemoperitoneum after follicular cyst rupture have been reported.
Paradoxical arterial and venous thromboembolic events can occur in afibrinogenemia in the presence of co-inherited thrombophilia, after replacement
therapy and without any of these risk factors
Pregnant women with dysfibrinogenemia are at particular risk for bleeding following vaginal delivery, C-section and regional analgesia.
Disorders involving fibrinogen are rare but should be considered in any patient with a history of hemorrhage or thrombosis in whom common causes have been ruled out.
Tests include:
(a) Clotting time (b) Prothrombin time (c) Activated Partial Thromboplastin time
(d) Fibrinogen Concentration determined both by IMMUNOLOGIC and CLOTTING METHODS
As a general rule PT is more sensitive compared with APTT.
To distinguish/specify diagnosis

Demonstration of ABSENT or TRACE
fibrinogen level by IMMUNOLOGICAL

Demonstration of low functional
levels of fibrinogen by CLOTTING
METHOD. In these cases Fibrinogen
may be normal or even raised!
For Inherited Disorders, try looking for similar findings in family members
Replacement therapy is generally effective in treating bleeding episodes in congenital afibrinogenemia. Patient's personal and family history of bleeding or thrombosis can help guide therapy.
Afibrinogenemia/Hypofibrinogenemia in Pregnancy
During pregnancy, treatment is recommended as soon as possible to prevent foetal loss (as early as 6–7 weeks to aid in implantation) and continued throughout pregnancy and postpartum with the aim of maintaining levels above 50mg/dL
The guidelines for dysfibrinogenemia are not standardized with lack of sufficient data in bleed management. As the dysfunctional fibrinogen can interfere with the function of the infused fibrinogen and assays used for monitoring, functional level of fibrinogen should be raised above 100mg/dL depending on the clinical response and maintained until wound healing is complete.
Dysfibrinogenemia in Pregnancy
In a pregnant woman with a bleeding phenotype, recommendations for afibrinogenemiahypofibrinogenemia
can be followed.
During delivery, it should be assumed that the baby has dysfibrinogenemia and invasive monitoring should be avoided.
Options for replacement include plasma-derived fibrinogen concentrate (used in Europe), cryoprecipitate (used in the United States) and fresh frozen plasma.
Antifibrinolytic agents such as amino-caproic acid and Tranexamic Acid may be used especially for dental procedures.
Rare inherited disorders of fibrinogen S. S. ACHARYA and D. M. DIMICHELE
Department of Pediatrics, Weill Medical College of Cornell University, New York, USA
Oestrogen–progesterone preparations may be helpful in menorrhagia/prevention of follicular rupture in previous cases in the absence of a thrombotic tendency.
Rizk DE, Kumar RM. Congenital afibrinogenemia: treatment of excessive menstrual bleeding with continuous oral contraceptive. Am J Hematol 1996; 52: 237–8.
Topical fibrin glue or antifibrinolytic agents may be advocated for superficial bleeds.
Kreuz W, Meili E, Peter-Salonen K, et al. Efficacy and tolerability of a pasteurised human fibrinogen concentrate in patients with congenital fibrinogen deficiency. Transfus Apher Sci 2005; 32: 247–53.
Rare inherited disorders of fibrinogen S. S. ACHARYA and D. M. DIMICHELE
Department of Pediatrics, Weill Medical College of Cornell University, New York, USA
A) CRYOPRECIPITATE: Its the main source of fibrinogen replacement in the US.
One Unit CRYO Fibrinogen Content = One Unit Whole blood fibrinogen content

-for minor episodes of bleed; 1unit CRYO/10kg weight.
-for major bleeds eg severe injuries or surgical procedures; 1unit/5kg weight.
Goal Fibrinogen >100mg/dL
Virally inactivated human fibrinogen concentrates are used.

Dose(mg) = [Target Fib-level(mg/dL) - measured fib-level] / 1.7 X bodyweight(kgs)
70mg/KG if Serum Fibrinogen Level not known
C) Fresh Frozen Plasma: If CRYO or FIB-CONCENTRATE not available. Larger quantities required.
1 Unit FFP = approx 200-250mg of fibrinogen
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