advertisement
Updated 01 June 2015

Answer: What's your diagnosis? – Case 11

In our latest case, Mrs Q presents to her doctor with unexplained bruising, which has been going on for more than two months. After investigations, it appears that Mrs Q suffers from a condition called cyclic thrombocytopenia. This rare condition is marked by periodic fluctuations in platelet count.

0

Cyclic thrombocytopenia (CTP) has similar features to idiopathic thrombocytopenia (a disorder where the patient can easily bruise. These bruises are usually excessive and are due to low platelet counts – the cells responsible for blood clotting). Often the diagnosis of ITP is made, but only when the patient is not responding to treatment, the diagnosis of CTP is considered.

How the doctor would approach this case:

General History about the patient's health is important:

1. Current or previous medical history  -  having bleeding tendencies

2. Previous similar episodes (including excessive bleeding during previous surgery)

3. Full list of medication patient might be using – including blood thinners (warfarin)

4. Social history – including smoking, alcohol and drug use


Specific history surrounding the complaint will include:

1. Similar previous episodes of bleeding or noticing blood in stool or urine

2. The extent of previous bruising (if any)

3. Any history of assault, injuries or self-harm (important to exclude!)

4. Is bruising confined to certain area or does it move around?

5. Any family members suffering similar episodes

5. Any contact with poisonous metals or substances

6. Ingestion of any medication not previously used

7. Any blood noticed in the stool or urine

The exact cause of CTP is not clear. In most cases no cause can be found (so called “idiopathic CTP). In some cases it can be due to myelodisplastic disorders (a group of conditions where the bone marrow produces defective blood cells, including platelets). The exact mechanism of the condition is unclear, but hormonal causes have been considered as part of the disease process due to the fact that in women a correlation with menstruation has is noted.

 Diagnosis:

A complete physical examination is vital:

Firstly, the doctor will look for any signs of active bleeding. This should be attended to immediately to prevent excessive and possibly fatal blood loss.

A general examination will reveal any signs of significant blood loss like pale eyes and mucus membranes.

The doctor will check for signs that can suggest a bleeding disorder:

1. Bruising

2. Petechial bleeds (pinpoint bleeds)

3. Enlarged spleen

All systems should be examined and a detailed graphic or descriptive note should be made on position, size and colour (which can give an indication of the “age” of the bruise).

Side-room investigations

Testing the urine for possible blood is vital. This will give an indication if there is any blood via the kidneys or urinary tract.

Finger prick testing, to check the haemoglobin level, can show how significant blood loss was over a short period of time.

Formal blood tests

The doctor will request blood to be drawn for laboratory testing. This will include:

  • Full blood count – check platelet level, red blood cell levels and white cells (may indicate infections).
  • Specialised rheumatological tests: ANF and RF might be done.

The doctor might also consider doing a bone marrow aspirate to check if the bone marrow is functioning well and if a dysfunction of the bone marrow responsible for making clotting factors may be the problem.

As mentioned earlier, the diagnosis of CTP is not easy. Often ITP will be diagnosed and treated with limited or no response. Typically the patients do not respond effectively to corticosteroids or even splenectomies (where the spleen is removed) and the diagnosis is therefore not final as more options should be considered.

Extensive work-up is usually necessary to find the exact cause of unexplained bleeding and bruising. Blood work typically shows decreased platelets, but can also be normal. 
Bone marrow biopsies can also be done, but often the result come normal – this makes the diagnosis even more difficult as it shows that platelets are formed normally by the bone marrow, but are destructed once they are formed.

Often specific genetic testing may also be considered. Rheumatology testing (like Anti-nuclear factor (ANF) and rheumatoid factor (RF)) might also be done.

Monitoring of platelets will show cyclic variations in synchronisation with menstruation.

Treatment

The first important thing to remember is the fact that CTP is a very difficult diagnosis to make. It should be distinguished from ITP. There is no specific treatment for CTP and management should be guided by possible cause, if known, and by the manifestations of the condition.

Diagnosis CTP is very challenging and remains a diagnosis of exclusion of more common conditions. The diagnosis should be made by a multi-disciplinary team including physicians, haematologists and pathologists. 

NOTE: Health24's on-site GP Dr Owen Wiese reveals new cases on Thursdays. The answer is posted with the story on Mondays, or you can get it on the Daily Tip – sign up here.

Previously on What's Your Diagnosis?

What's your diagnosis? – Case 1: vomiting and weight loss

What's your diagnosis? – Case 2: eye pain

What's your diagnosis -  Case 3: strange behaviour and a bullet in the back

What's your diagnosis - Case 4: seeing odd things

What's your diagnosis - Case 5: mysterious lungs

What's your diagnosis - Case 6: runner with seizures

What's your diagnosis - Case 7: swollen knee

What's your diagnosis - Case 8: bloody semen

What's your diagnosis - Case 9: confusing neurological signs

Wha'ts your diagnosis - Case 10:diabetic teenager with unusual signs and symptoms

Image: Clotted red blood cells from Shutterstock

Dr. Owen J. Wiese is Health24's resident doctor. After graduating from Stellenbosch University with additional qualifications in biochemistry and physiology he developed a keen interest in providing medical information through the media.

 
NEXT ON HEALTH24X
advertisement

Read Health24’s Comments Policy

Comment on this story
0 comments
Comments have been closed for this article.

Live healthier

The debate continues »

Working out in the concrete jungle 7 top butt exercises for guys 10 things pole dancing can do for you

The running vs. walking debate

There are many different theories when it comes to the running vs. walking for health and weight loss.

Veganism a crime? »

Running the Comrades Marathon on a vegan diet Are vegans unnatural beasts? Can a vegan be really healthy?

Should it be a crime to raise a baby on vegan food?

After a number of cases of malnourishment in Italy, it may become a crime to feed children under 16 a vegan diet.