MM19 ANZCA version [2004-Apr] Q135
Which of the following statements regarding C1-esterase deficiency is FALSE? A. Attacks can be identified by low C4 complement levels. B. Estrogen receptor blocking drugs help prevent attacks. C. Severe abdominal pain can be a presenting complaint. D. Specific plasma extract can be used prophylactically. E. The condition is a purely inherited trait.
MM19 ANZCA version [2004-Apr] Q135
Which of the following statements regarding C1-esterase deficiency is FALSE?
- A. Attacks can be identified by low C4 complement levels.
- B. Estrogen receptor blocking drugs help prevent attacks.
- C. Severe abdominal pain can be a presenting complaint.
- D. Specific plasma extract can be used prophylactically.
- E. The condition is a purely inherited trait - false:
- "There is also an acquired form of C1 inhibitor deficiency, which presents in older patients and is associated with underlying disorders in most cases." (Uptodate)
Yentis 3rd Ed p 246
"An acquired form may occur in lymphoma". E is false (hence answer)
- C1 Esterase Inhibitor Deficiency, also known as Hereditary angioedema (HAE), is an inherited disease caused by low levels of the plasma protein C1 inhibitor (C1-INH). Acquired angioedema (AAE) is caused by a consumption of C1-INH (for various reasons) that leads to low levels of this protein (see Angioedema). Deficiencies in this protein allow unchecked activation of the classic complement pathway and other biochemical systems. Patients can present with any combination of cutaneous angioedema, severe abdominal pain, or acute airway obstruction. Prior to the development of effective therapy, the mortality rate was 20-30%. Although preventable and treatable, the complications of this disease do not respond well to the usual therapies for angioedema; therefore, establishment of the correct diagnosis is critical.
- The results of most routine laboratory tests performed on patients with hereditary angioedema (HAE) are usually normal. Patients typically do not have increased erythrocyte sedimentation rates or eosinophilia; if either is present, the clinician should consider a coexisting or different diagnosis.
- The screening tests for HAE are serum C4 and C1-INH levels. The C4 concentration is almost always decreased during attacks and is usually low between attacks. The concentrations of C3 and C1q are normal in patients with HAE, regardless of the clinical status of their disease.
- The C1 inhibitor (C1-INH) levels of patients can be boosted prior to procedures by the use of anabolic steroids for a week or, more reliably, with fresh frozen plasma (FFP) infusions.
- n Europe, purified C1 inhibitor (C1-INH) is available for treatment of acute attacks; it is not available in the United States. As discussed above, FFP or attenuated androgen is given prophylactically prior to surgery. Since therapy of acute attacks is relatively unsatisfactory, drug prophylaxis is the mainstay of therapy.
C1-esterase inhibitor concentrate is also available in Australia. Used for prophylaxis and therapy. Trade name is Berinert, comes in vials of 500 units (dry substance), pretty expensive stuff, one vial is around AUD 1600. --Stmz 03:47, 26 Jul 2008 (EDT)
offtosleepnow: Unless I've missed something, oestrogen receptor blockers play no part in the management of c1 esterase deficiency (hereditary angio-oedema, rare autosomal dominant)characterised by low c4 and with a variety of presentations inc acute abdo pain. Management involve prophylaxis with danazol and stanozolol, both anabolic steroids, which, as far as I'm aware merely stimulate androgen release, they are not oestrogen receptor antagonists per se. There there is an acquired form in lymphoproliferative diseases, but it's rare . Other prophylactic treatments include fibrinolysis inhibitors such as e-aminocaproic acid and tranexamic acid. newer treatments involve a plethora of recombinant c1 esterase complexes... it's a bad question because both b and e are incorrect...is the learning point that the condition can be acquired or that tamoxifen won't help in an attack?? I think on the basis of what stoelting says, i would go b) as the answer...(I think college psychology is that erb is a distractor for e-aca!!) references: harrisons 15th ed, wikipedia, emedicine, the reference below, stoelting 4th ed (nb google and wiki searches performed using c1 esterase inhibitor AND tamoxifen/herceptin...no decent hits)
And yet, E is absolutely false - congenital and acquired versions clearly described in all texts. While I also agree that B sounds wrong I can't find evidence either way and prefer to go with what I know to be a valid answer. E for me. Jo May 09.
- "Women often have attacks during menses, but attacks may be less frequent in some patients during the later stages of pregnancy. Both estrogen and antiandrogen therapy have been described as precipitators of attacks"...Makes me think they (Estrogen receptor blocking drugs) have been used somewhere along the line and I just can't find it, E is correct...Kingfed