von Willebrand’s disease
* the most common inherited coagulopathy caused by a defect in von Willebrand factor, which aids the binding of platelets to collagen
* chromosome 12, autosomal dominant
* Bleeding related to platelets (epistaxis, gingival, gums) with a normal platelet count;
* exacerbated by the use of aspirin
* it is a protective carrier for factor VIII; hence factor VIII may be low and hence aPTT may be elevated (50%)
* low vWF (antigen) level;
* Ristocetin cofactor assay (or vWF activity) – detects vWF dysfunction; deficient ristocetin-induced platelet aggregation
* it means there is no response to ristocetin but this is corrected with the addition of normal plasma
* low factor VIIIc;
* prolonged BT
The combination of a petechial skin rash combined with a slightly elevated APTT and reduced factor VIII activity make Von Willebrand’s disease the most likely diagnosis, though hemophilia will be given in the answer choices
DDAVP (desmopressin) if mild, and with vWF concentrate
- autosomal recessive
- disease of platelet adhesion which causes prolonged bleeding times in the presence of normal platelet counts.
- These defective platelets cannot bind to subendothelial collagen properly because of a deficiency or dysfunction of the glycoprotein Ib-IX complex.
- Clinically the patients have impaired hemeostasis and recurrent severe mucosal hemorrhage.
- bleeding out of proportion to the degree of thrombocytopenia
- mild thrombocytopenia, circulating “giant” platelets, severe platelet dysfunction; Hb may be low because of blood loss
- platelets do not aggregate in response to ristocetin, but have a nornal aggregation in response to adenosine diphosphate (ADP), epinephrine and collagen
- The only treatment for an acute episode is a transfusion of normal platelets.
- Cryoprecipitate or vWF concentrate do not help
May–Hegglin anomaly (MHA)
May–Hegglin anomaly (MHA), also known as Dohle leukocyte inclusions with giant platelets and macrothrombocytopenia with leukocyte inclusions
autosomal dominant, MYH9 gene defect (22q12-13)
may found in association with Alport Syndrome
So, look for high frequency hearing loss (82%), proteinuria (40%), cataracts (25%), Hematuria (25%)
platelet glycoprotein IIb/IIIa complex is either deficient or present but dysfunctional leading to defective platelet aggregation and subsequent bleeding
- Platelet counts and other coagulation tests (PT, PTT) are normal
- Prolonged BT
- Primary platelet aggregation response to platelet agonists such as adenosine diphosphate, epinephrine, and collagen is decreased, while the response to ristocetin is normal
platelet transfusion in case of active bleeding
May-Hegglin anomaly is rare and not really tested in questions. Also, it is in fact primarily a morphology and quantitative platelet disorder but I put it as a side note to compare.
My way to remember:
- May-Hegglin is Dominant because of Dohle and Giant platelets; remember also Alport is (x-lined) dominant
- Bernard-Soulier has 2 names ADHERED (adhesion problem); so it becomes Giant and do not listen to Ristocetin
- Glanzmann has “G” for AGGreGation and aGree to ristocetin while response to others are decreased
Watery, osmotic (e.g, Laxative-induced diarrhea),
secretory (eg, microscopic colitis)
Functional – mucus (typically from irritable bowel syndrome)
Inflammatory – blood +/- pus (eg, IBD as in Chron’s and UC, some invasive bacteria)
Two main questions to answer are:
- Acute or Chronic
- Watery (non-bloody) or Bloody
Blood and WBCs in stool
No Blood and WBCs in stool
- Giardia lamblia
- Cryptosporidiosis/ isospora: AIDS with CD4 <50-100; detected by modified acid fast stain (treat underlying AIDS, nitazoxanide which is superior to paromomycin)
- Bacillus cereus: vomiting – warmed or slowly re-heated fried rice
- Staphylococcus: vomiting
- The best initial test is for blood and/or fecal leukocytes with methylene blue testing
- Stool lactoferrin has greater sensitivity and specificity compared with stool leukocytes
- The most accurate test = stool culture to determine the specific type
- Modified acid-fast test for cryptosporidiosis because routine fecal O/P does not reliably pick up
- ELISA stool antigen test for Giardiasis (90% sensitivity); 3 fecal O/P for Giadria has lesser sensitivity (80%) than single stool antigen test
- consider antibiotics only when abdominal pain, blood in the stool, and fever
- best initial empirical = ciprofloxacin or other fluoroquinolones +/- metronidazole
- TMP/SMX for Isopora
- Doxycycline for Vibrio vulnificus
- Rifaximin for traveler’s diarrhea
- flagellated protozoan, often acquired during hiking/ camping activities, by drinking unpurified water from streams
- affects small bowel (duodenum and proximal jejunum) producing upper GI symptoms such as frequent burping, bloating, distention, flatus, and loose, nonbloody, foul-smelling and fatty diarrhea (steathorrhea).
- duodenal aspirate/ biopsy/ immunoassay
- stool for parasites/ eggs
- stool ELISA
- metronidazole/ Tinidazole
- Increasing abdominal pain/distention and diarrhea
- Leukocytosis > 18,000
- Hemodynamic instability
- Stop the causative antibiotic (if possible)
- No treatment if asymptomatic
- Metronidazole for symptomatic cases
- Vancomycin may be better in severe disease
- Consider surgery (urgent colectomy) if complications such as toxic megacolon developed; raised LDH and in deteriorating patient
Initial evaluation of Chronic diarrhea
- most useful screening test is stool for fat (Sudan red stain)
- confirm with 72-hour stool for fecal fat (gold standard for steatorrhea)
- Steatorrhea is most prominent with pancreatic insufficiency; all require a sweat chloride (to rule out CF and Schwachman-Diamond $)
- Serum trypsinogen may also be used
- Screen for carbohydrate malabsorption — measure reducing substances in stool (Clinitest)
- Breath hydrogen test
- Protein loss — difficult to evaluate directly
- Screen with spot stool alpha-1 anti-trypsin level
Differential Diagnoses of Chronic Diarrhea
- most common infectious cause = Giadiasis
- most common congenital cause with malabsorption = cystic fibrosis
- most common anomaly cause with incomplete bowel obstruction + malabsorption= malrotation
Primary polycythemia/ Polycythemia vera
- a.k.a polycythemia rubra vera; erythremia
- common in age 60 – 75
- overproduction of all three hematopoietic cell lines with predominant elevation in red cell counts
- mutation in the JAK2 protein which regulates marrow production
- red cells grow wildly despite a Low erythropoietin level
- high serum leukocyte alkaline phosphate
- Headache, blurred vision, and tinnitus
- pruritus, especially after hot bath (due to histamine release from increased numbers of basophils)
- HTN, facial plethora, fatigue, Splenomegaly
- Bleeding from engorged blood vessels
- Thrombosis from hyperviscosity
- elevated Hct >60%*
- low MCV and Low iron (because of excessive usage and production)
- however, Vit. B12 levels are elevated for unclear reason
- exclude hypoxia first; normal Oxygen level and *low erythropoietin level in PV
- initial 1st line – Phlebotomy and aspirin prevent thrombosis – target Hct 45%
- Hydroxyurea helps lower the cell count
- indicated in old age >70 years; has thrombosis; has a platelet count >1500; and has cardiovascular risk factors
- Allopurinol or rasburicase protects against uric acid rise
- Interferon alpha may be used in refractory cases
Kidney cancer is an important differential diagnosis of secondary polycythemia.
Renal Cell Carcinoma is a neoplastic condition that can initially appear with many different paraneoplastic manifestations.
The initial presentation may include hypertension, flank mass, gross or microscopic hematuria, hypercalcemia, fever, weight loss, and/or polycythemia.
Polycythemia may be the presenting sign in 3% of cases of kidney cancer.
Careful evaluation is important in patients presenting with polycythemia and hematuria.
Polycythemia is secondary to a hypersecretion of tumor cytokines, including renin.
The patient’s erythropoietin level is usually high.
Surgical removal of the cancer resolves the polycythemia.
Methanol and Ethylene glycol poisoning
1) Methanol can cause retina injury leading to blindness ( eye manifestations can happen as early as 15-20 hours post ingestion) ? secondary to the accumulation of formic acid/ formaldehyde;
That’s why the first thing you do in suspected methanol poisoning is …
to check retinal inflammation
Methanol can be found in wood solvent, sterno, paint thinner, photocopier fluid, and cleaning solutions such as windshield washer solution
2) Ethylene glycol (coolant, anti-freeze) poisoning
toxic metabolite is Oxalic acid/ oxalate >> damage kidneys
usually has 3 distinct clinical phases-
- first stage- CNS effects ( first 12 hours),
- second stage- cardiopulmonary effects ( HTN, CCF, ARDS etc) metabolic acidosis with high anion gap and high osmolar gap and
- third stage- renal effects- ARF.
Tip to memorize: You see? going from top to bottom in order – CNS -> CVS -> Renal
Initial Dx – check hypocalcemia, envelope-shaped oxalate crystals in urine
Acute management include gastric lavage and correct the metabolic acidosis.
fomepizole, an inhibitor of alcohol dehydrogenase, is now used first-line in preference to ethanol, however it cannot remove toxic substance formed already.
Haemodialysis can be done for effective and faster removal of the toxic metabolites.
- tremors, tachycardia, and anxiety;
- Seizures may occur 6-12 hrs after the last drink
- manifests 48-72 hrs after the last drink but can last up to 10 days
- Mental confusion
- autonomic hyperactivity
- visual hallucinations
- severe agitation
- may be confused with DT
- starts 12-24 hours after last drink but can last days to weeks
- Paranoid psychosis without tremors and confusion
- Normal vital signs (no HTN and tachycardia)
- No agitation
- Normal appearance except for auditory (most common), visual, or tactile hallucinations
- Confusion, ataxia, and ophthalmoplegia (nystagmus)
- Amnesia and confabulations
Myanmar (or Burma) has been suffering from the recent flood disaster. This flood can be regarded as one of the worst disasters in decades. Most of the cities in 10 out of 14 States (or Divisions) are already under water now. Reportedly, up to 150,000 people had been displaced or had their livelihoods affected due to this terrible flood. More torrential rain is expected in the coming days according to weather forecast. This status has been posted in order to create the awareness for this flood disaster in Myanmar and let all countries across the world know that flood victims are in need of help for their survival and rehabilitation. Moreover, people in disaster zones are dying everyday due to lack of food, clean water and basic necessities for life. For people in Burma, you can check this websitehttp://www.myanmarflood.info/ for more information and donation. And also please copy and paste this status on your timeline along with hash-tags below to create international awareness. Your help is one of the necessities for flood victims.
#SaveMyanmar #SaveBurma #SupprotMyanmar #SupportBurma
Myanmar Flood Data
I start to do a donations for Water Flood in Myanmar. I need a help & Supports of all of my fris, bros & siss. Plz donate & help the peoples who are in trouble. 😞😞😞
나는 미얀마 물 홍수에 대한 기부금을 시작합니다. 나는 나의 친구, 형제 및 자매 모두의 도움말 및 지원하는 필요합니다. 기부 및 문제가있는 사람들을 도와주세요.
ฉันจะเริ่มต้นที่จะทำสำหรับการบริจาคน้ำท่วมน้ำในพม่า ฉันต้องการความช่วยเหลือและรองรับทั้งหมดของเพื่อน ๆ พี่ ๆ น้อง ๆ และน้องสาว กรุณาบริจาคและช่วยให้คนที่กำลังมีปัญหา
Ben Myanmar Su Flood için bağış yapmaya başlar. Ben arkadaşlarım, kardeşler ve sisterss tüm bir yardım ve Destekler gerekir. Bağış ve başı dertte olan halklara yardım edin.
Sisimulan ko na gawin ang isang donasyon para sa Water Flood sa Myanmar. Kailangan ko ng tulong & sumusuporta sa lahat ng aking mga kaibigan, mga kapatid at kapatid na babae. Mangyaring mag-abuloy at matulungan ang mga mamamayan na nagkakaproblema.
मैं म्यांमार में पानी बाढ़ के लिए एक दान करना शुरू करते हैं। मैं अपने दोस्तों, भाइयों और बहनों के सभी की एक मदद और समर्थन करता है की जरूरत है। दान और मुसीबत में हैं, जो लोगों की मदद करें।
ຂ້າພະເຈົ້າເລີ່ມຕົ້ນເພື່ອເຮັດການບໍລິຈາກສໍາລັບນ້ໍາ້ໍາຖ້ວມໃນມຽນມາໄດ້. ຂ້າພະເຈົ້າຕ້ອງການການຊ່ວຍເຫຼືອແລະການສະຫນັບສະຫນູນຂອງທັງຫມົດຂອງຫມູ່ເພື່ອນອ້າຍນ້ອງຂອງຂ້າພະເຈົ້າ, ແລະເອື້ອຍນ້ອງ. ກະລຸນາບໍລິຈາກແລະການຊ່ວຍເຫຼືອປະຊາຊົນຜູ້ທີ່ມີບັນຫາໃນການ.
Eu começo a fazer doações para uma inundação de água em Myanmar. Eu preciso de uma ajuda e Suporte de todos os meus amigos, irmãos e sisterss. Por favor, doe e ajudar os povos que estão com problemas.
Ich fange an, eine Spende für Wasser Überschwemmung in Myanmar zu tun. Ich brauche eine Hilfe & Supports aller meiner Freunde, Brüder und sisterss. Bitte spenden Sie und um die Völker, die in Schwierigkeiten sind.
Αρχίζω να κάνει μια δωρεά για το Νερό πλημμύρες στη Μιανμάρ. Χρειάζομαι βοήθεια & Βάσεις όλους τους φίλους μου, τους αδελφούς και sisterss. Παρακαλούμε να δωρίσουν και να βοηθήσει τους λαούς που βρίσκονται σε δύσκολη θέση.
Я начинаю делать пожертвования для воды Потопа в Мьянме. Я нужна помощь & Опоры всех моих друзей, братьев и sisterss. Пожалуйста, поддержите и помочь народам, которые попали в беду.