In routine practice, pallor is mostly due to anaemia. In this article, Dr. YK Amdekar discusses various types of anaemia and the degree of pallor patients present with, which can ultimately help with diagnosis.

---

Severe pallor is obvious on casual observation of the skin and mucous membranes. However, the degree of pallor is best observed on the palmer creases of a patient. Palmer creases in pallor appear very faint in the background of the rest of the pale palm as compared to easily visible creases on the observer’s own palm without pallor. Thus, one can easily judge the degree of pallor.

While pallor is most commonly due to low haemoglobin, it may also be rarely due to other causes such as carotenemia (carotene pigment deposited on the skin due to excessive intake of carrots) and severe oedema with stretching of skin as in nephrotic syndrome (termed as waxy pallor). In such conditions, pallor is evident only on the skin and not in mucous membranes. The patient may suddenly appear pale- evident on the face in case of shock.

---

Aetiology

Common groups of aetiology of anaemia include deficiency, haemolysis and bone marrow diseases. Mere observation can suggest a probable diagnosis of one of these groups and may even indicate subgroups such as iron or vitamin B12 deficiency, congenital or acquired haemolytic anaemia and infiltrative bone marrow disease (leukaemia) or aplasia.

---

Observe relevant clues

1. Sick or not sick: A patient looks sick in case of acute anaemia due to severe blood loss and in chronic anaemia resulting from bone marrow disease (leukaemia, marrow aplasia) or cardiac failure due to severe anaemia. The patient does not appear sick in case of deficiency anaemia or haemolytic anaemia.
2. Stunted or normal growth: Congenital haemolytic anaemia results in stunting of growth, while growth is normal in other types of anaemia. A child with deficiency anaemia may also be severely malnourished and hence may have lower than expected length/height.
3. Upper abdominal distension: Presence of upper abdominal distension in all the quadrants suggests enlarged liver and spleen as seen in congenital haemolytic anaemia (spleen more than liver) and leukaemia. There is no abdominal distension in deficiency anaemia and marrow aplasia.
4. Jaundice: One may have to look carefully for the presence of icterus in the eyes that would suggest acute (autoimmune) or chronic haemolytic anaemia (congenital spherocytosis but not thalassemia). Jaundice is mild and may easily be missed. Congenital sickle cell anaemia may also present with jaundice but not due to haemolysis but a result of liver involvement (in such a case, jaundice is more severe and urine is yellow while in haemolytic anaemia, jaundice is mild and urine is not yellow).
5. Abnormal facies: Congenital haemolytic anaemia (mainly thalassemia major) presents with typical facies such as frontal bossing, hypertelorism and maxillary prominence. Children with other types of congenital haemolytic anaemia may not reveal marked changes.
6. Fingers: Koilonychia (spoon shape) or platenychia (flat) nails suggest iron deficiency anaemia. Knuckle pigmentation indicates vitamin B12 deficiency.
7. Enlarged lymph nodes: They may be visible in the neck or even in the groin. Along with pallor and sickness, they indicate lymphatic leukaemia.

---

Observations beyond the patient

Congenital spherocytosis is an autosomal dominant disorder that means one of the parents also suffer from the same defect and so the sufferer parent is short with abdominal distension. It almost clinches the diagnosis.

The following case scenarios are examples of how mere observation can help diagnose the probable causes of anaemia.

---

Case 1

An 18-month-old infant presented with pallor noticed by parents over the last few months, slowly worsening. There were no other major complaints except general weakness. He has been consuming one litre of milk a day in a bottle with very little solid food. Observation revealed a 'not sick' child, severe pallor with koilonychia and signs of rickets without abdominal distension.

Diagnosis: This is classical iron deficiency anaemia with vitamin D deficiency rickets, a result of a near-exclusive milk diet (milk is a poor source of iron and vitamin D). The diagnosis was confirmed by microcytic hypochromic anaemia on peripheral blood smear and low MCV with thrombocytosis. There is no need to assess serum iron levels or any more tests unless oral iron supplements do not improve haemoglobin.

Treatment: Reticulocyte response was seen at the end of the first week with oral iron supplementation.

---

Case 2

A one-year-old infant presented with gradually increasing pallor and abdominal distension noticed since the age of 6 months. On direct questioning, the child reported feeling weak and reluctant to play. Observation revealed a 'not-sick' child, severe pallor, abnormal facies (frontal bossing, hypertelorism and prominent maxillae), stunted growth, abdominal distension in left hypochondrium (spleen enlarged more than liver), and no jaundice.

Diagnosis: This is classical thalassemia major. Diagnosis can be confirmed by haemoglobin electrophoresis and both parents showing evidence of thalassemia minor.

---

Case 3

A 5-year-old child was noticed to be pale over a period of 6 months. There were no other complaints. On direct questioning, parents had observed poor height as compared to other siblings at that age but they had ignored the same because one of them was also short. Observation revealed a 'not-sick' looking child, moderate pallor, mild icterus, mild upper abdominal distension (probably organomegaly and short stature.

Diagnosis: This is typical congenital haemolytic anaemia and considering similar findings in the father, it is an autosomal dominant condition such as congenital spherocytosis. This can be confirmed by increased fragility test and peripheral blood smear showing spherocytosis.

---

Case 4

An 8-year-old child presented with fever for 2 days followed by sudden onset of pallor and jaundice with normal urine colour. Observation showed a sick, febrile child, severe pallor, mild jaundice, mild left hypochondrial fullness (probable splenomegaly) without enlarged liver.

Diagnosis: This is a classical presentation of acute autoimmune haemolytic anaemia often triggered by viral infection. There is no need for extensive investigations except Coomb’s test. The disease is usually self-limiting but occasionally may need packed cell transfusion in case of severe anaemia resulting in cardiac decompensation.

---

Case 5

An 8-year-old child presented with high fever, irritability and pallor lasting four days. Observation revealed a sick febrile child, moderate pallor, purpuric spots on the skin, significantly enlarged cervical lymph nodes and mild upper abdominal distension (probable organomegaly). This is classical of acute lymphatic leukaemia. Diagnosis can be confirmed by peripheral blood smear showing blast cells and further tests are necessary to characterise subtypes.

---

In summary, one can understand the amazing power of observation to suspect the cause of anaemia. The broad group can be easily known by noticing sick or not sick, enlarged abdomen or not, jaundice or not and further subgroups can be evaluated by signs in fingers (koilonychia or knuckle pigmentation), stunted growth and abnormal facies, purpura and enlarged lymph nodes. The severity of anaemia can be judged by observing palmer creases.

---

To read more on anaemia and pallor, click here.

Disclaimer- The views and opinions expressed in this article are those of the author's and do not necessarily reflect the official policy or position of M3 India.