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HEREDITARY ANGIOEDEMAClinical Case PresentationMaría Cristina Barahona
8-849-765
CLINIC HISTORY G. Price is a 23 year old male patient with a history of hereditary
angioedema by C1 inhibitor deficiency diagnosis in 2013,
currently untreated. He was admitted for clinical symptoms of
edema in facial area, perioral area, and scrotal edema 3 days of
evolution. Further relates productive cough with greenish
expectoration, roughly a week of evolution, associated with
fever unquantified.
Family History• Mother – Cardiopaty• Father – Arterial hypertension
Social History• Tobacco Yes No • Alcohol Yes No • Drugs Yes No
Surgical History• Appendectomy (2003)
Blood Transfusion
• Multiple transfusions of fresh frozen plasma
Previous Hospitalizations• Community-acquired pneumonia
(2014)
PHYSICAL EXAMoAwake, alert, appropriate and completely
oriented
o Face
o edema in facial area
o Eyes, ears and mouth
o Pupils equal, round and reactive to light. Sclera
anicteric
o Tympanic membranes and external auditory
canals normal
o Edema in perioral area and lips
oHeart
o Rhythm was regular
•Lung
o Crackles and sibilant in the lung bases bilaterally.
•Abdomen
•Is symmetrical without distention; bowel sounds are
normal in quality and intensity in all areas. No masses.
No hepatomegaly. No splenomegaly.
•Extremities
•No evidence of clubbing, cianosis. It concerns edema in
upper and lower limbs
•Genitals
•Scrotal edema. Penis normal.
DIFFERENTIAL DIAGNOSISo Angioedema
o Cholinergic Urticaria
o Chronic Urticaria
o Contact Urticaria Syndrome
o Dermatologic Manifestations of Urticarial Vasculitis
o Dermographism Urticaria
o Drug Eruptions
o Pressure Urticaria
o Solar Urticaria
DEFINITIVE DIAGNOSIS
Haga clic en el icono para agregar una imagen
HEREDITARY ANGIOEDEMA BY C1 INHIBITOR DEFICIENCY
TREATMENT PLAN AND EVOLUTION
04/22/2015• The patient was admitted to the emergency department,
which recommended to be handled with 3 pool transfusions of fresh frozen plasma (FFP)
22/04/2015 (6:30 am) • The first pool of PFC is transfused
22/04/2015 (10:00 pm)• The second pool of FFP is transfused• In the second transfusion of FFC, the patient presented a erythema in chest and upper limbs, so it was decided to suspend the transfusion and give 1 vial of diphenhydramine. Assessed the patient at the time, where he presented complete decline of the rash
23/04/2015 (11:30 am) • The third pool of FFP is transfused
24/04/2015 • The patient refers breathlessness and bronchial secretions.
He also referred fever, itching, generalized edema.
24/04/2015 • Short-term treatment - Danazol
REVIEW LITERATUR
E
C1 inhibitor deficiency is a rare
syndrome clinically characterized by
recurrent episodes of swelling of
subcutaneous tissue or
angioedema. It can involve the skin,
upper respiratory airways and
abdomen. Angioedema can involve
practically any part of the cutaneous
surface, it can cause lethal laryngeal
edema and can present as
gastrointestinal obstruction. The
attacks can be triggered, in
general, by trauma, drugs or
infections. Diagnosis is confirmed by
decreased serum levels of C4 and
absence or marked decrease of
the level or function of C1
inhibitor
SUMMARY Although C1 inhibitor deficiency is a rare syndrome, it is worth being aware of
its existence due to its potential involvement of the upper airways, which can
cause death of the patient. The most common type of angioedema due to C1
inhibitor deficiency is the congenital type, which usually becomes evident
during the second decade of life with abdominal symptoms.. Diagnosis of the
disease begins with clinical suspicion (skin swelling with occasional involvement
of the upper airways or abdomen). Clinical suspicion must be confirmed by
measurement of C4 and quantification of C1 inhibitor in plasma; if necessary,
C1 inhibitor function may also be measured
STRENGTHS AND WEAKNESSES IN THE HOSPITAL PRACTICE
STRENGTHSDuring hospital practice I could discuss, study on new pathology strengthen my knowledge, to carry out an appropriate approach both ethical, medical and therapeutic.
Best experience in the development of medical records, patient evolution and performance of procedures
WEAKNESSESMy first experience in a hospital practice, which was a little exhausting
REFERENCE J. Pedraz, E. Daudén, A. García-Diez. Practical Management of C1 Inhibitor Deficiency.Actas Dermosifiliogr. 2007;98:240-9.