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

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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.