HEREDITARY

ANGIOEDEM
A
Clinical Case Presentation
Mara 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.

Blood Transfusion

Family History
Mother Cardiopaty
Father Arterial hypertension

Social History
Tobacco
Alcohol
Drugs

Yes
No
Yes No
Yes
No

Surgical History
Appendectomy (2003)

Multiple transfusions offresh frozen

plasma

Previous
Hospitalizations
Community-acquired pneumonia
(2014)

PHYSICAL EXAM
oAwake, 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 DIAGNOSIS
o 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

Haga clic en el icono para agregar una imagen

DEFINITIVE
DIAGNOSIS
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

C1

inhibitor

deficiency

is

rare

syndrome clinically characterized by

REV
IEW
LITE
RAT
URE

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

gastrointestinal
attacks

can

general,

by

present

obstruction.
be

The

triggered,

trauma,

as

drugs

in
or

infections. Diagnosis is confirmed by

decreased serum levels of C4 and
absence or marked decrease of
the

level

inhibitor

or

function

of

C1

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
STRENGTHS

During 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

WEAKNESSES

My first experience in a hospital practice, which was a little

exhausting

REFERENCE
J. Pedraz, E. Daudn, A. Garca-Diez. Practical Management of C1 Inhibitor
Deficiency.Actas Dermosifiliogr. 2007;98:240-9.