Hemophilia : Long Case

CONTENTS

1. History
2. Examination
3. Summary
4. List of problems
5. Management plan
6. Possible questions that could be asked during the discussion 

Hemophilia is one of the commonest long case topics. It is more commonly given in Pediatrics than in Medicine. The format includes the history, examination, summary, list of problems and management.  First, a proper history should be taken.

HISTORY

• Introduction of the patient
• Name
• Sex
• Age
• From
• Occupation
• History is taken from .................... who is educated up to .................. and the history is reliable
• Presenting Complain

If you are given a patient with hemophilia, the parents or the guardians know the diagnosis. The aim of the history in a patient with hemophilia is mainly to find management difficulties, to inquire about complications of the illness and to find out other problems. The diagnosis has already been made and the parents often know the type of hemophilia the child has. Therefore, history may not be taken to diagnose the disease. Therefore, the presenting complaint can be begun as "This is a diagnosed patient with hemophilia A, present to hospital for routine factor transfusion". Sometimes, patients with hemophilia presents with episodes of bleeding. 

• History of presenting complaint (HPC)

Do not start the history by saying that the child is a product of consanguineous marriage as usual. Hemophilia is an X linked recessive disorder. Therefore, consanguinity doesn't have any effect on the disease. You can start the history by saying that the child is with a history hemophilia from the mothers side of the family. 

Start from birth and tell what happened since then like a story. Make sure to focus on the followings.

• Onset of symptoms
• Sites of bleeding
• Severity of bleeding 
• Bleeding during crawling period
• Whether the bleeding occurred spontaneously or after trauma
• Time taken to bleed after trauma
• What was done and how the child was diagnosed
• History of seizures indicating intracranial bleeding
• Presence of a target joint - target joint is a joint where repeated bleeding has occurred. With repeated attacks of bleeding ultimately cause osteoarthritis of the joint and bony spike formation which ultimately lead to joint deformity.
• History of muscle bleeding - disabilities and treatments taken should be explained
• Spontaneous appearance of echymotic patches
• History of hematuria
• Also explain the treatments the child is on. Mention the frequency of factor transfusion. Most parents know if the child has developed inhibitors. If the child has developed inhibitors, say what has been done regarding them.
• Then describe the present problem. If the child is presented with another attack of bleeding, describe the circumstances, severity of bleeding. Also mention what was done at home. 
• Past medical history
• blood group
• blood transfusion related complications
• infections - HIV, hepatitis B and C, malaria
• Past surgical history - bleeding after tooth extraction
• Immunization history - bleeding after intramuscular injections
• Allergic history
• Social history
• Hemophilia requires regular factor transfusion. This can interfere with schooling of the child. 
• Mention about the education level of the parents and their understanding regarding the illness.
• Other siblings affected
• Income
• Nearest hospital
• Transport facilities
• Most people now know that hemophilia is a disease that you inherit from your mother. This can give rise to many social obstacles. For example, the farther's side relatives of the child can blame the mother for bringing a defective gene in to the family. 

Other than hemophilia, there are other bleeding disorders that can be given as your long case. Most of the time this is the first presentation of the disease. In such situations you should take to exclude each and every diagnosis. The history will be the same but some aspects of the history should be altered accordingly. Von willebrand disease, Idiopathic thrombocytopenic purpura, liver disease and SLE  are some of the common bleeding disorders that can be presented to you as your long case. Therefore, read about them and be prepared to answer the questions that can arise  during the discussion. 

Examination

General Examination

• General appearance - depressed, in pain
• Pallor
• Petechiae 
• Purpura
• Echymosis
• Gum bleeding 
• Features of systemic lupus erythematosus
• Joint swelling, deformity, contractures, level of disability
• Look for any hidden sites of bleeding

Complete system examination and note down any abnormalities found. Nervous system examination is important in cases of intacranial bleeding.

Summary

A comprehensive summary should be prepared to show the main problems.

List of Problems

Categorize the problems as,

• Medical problems
• acute
• chronic
• Psychological problems
• Social problems

Management Plan

Address each and every problem you have identify.

• List the investigations that you will order.
• Full blood count to know the degree of anemia, platelet count and white cell count

Possible Questions that could be Asked During Discussion

1. Does the child has a target joint?
2. The factor level requirement of the child.
3. Factor requirement of the child if the child were to undergo a major surgery
4. If the child presents with features of intracranial bleeding, what is your initial management?
5. The place of gene therapy