Symptoms & Information for GPs

• Mottled pigmentation or depigmentation (darker or lighter patches) of skin.
• Dystrophic nails (ridged or thickened nails), loss of nails in severe cases.
• Premature greying of hair
• Anaemia (low red cells), causing fatigue and paleness, or if severe, breathlessness.
• Leucopenia (Low white blood cells). If severely low, infection is more common and more serious.
• Thrombocytopenia (low platelets). If severe, causes bleeding (purpura/petechiae- red dots or small patches on the skin, or more severely internal bleeding into joints, brain or other organs.

Telomere Biology Disorders are inherited multisystem conditions.  Family history is critical.
Manifestations include bone marrow failure, pulmonary fibrosis, emphysema, cryptogenic liver cirrhosis, lacrimal duct, oesophageal and urethral stenosis, avascular necrosis of hips and shoulders, periodontal disease, an increased predisposition to epithelial and hematologic malignancies. Extra consideration may also need to be given to those at risk of metabolic disorders and (pre)diabetes.
The symptoms of TBD can appear at any age and adult-onset bone marrow failure can be difficult to distinguish from idiopathic aplastic anaemia. The effects of Telomere Biology Disease can be variable in severity and clinical prognosis is difficult to predict. As multi-system complications can emerge at any time during a patient’s life, lifelong follow-up and monitoring is required. The heterogenous course of possible clinical development make recommendations for frequency of monitoring difficult but blood tests, bone marrow examinations, pulmonary function tests etc. on an annual basis are advisable. Liaison with a specialist centre providing multidisciplinary monitoring, treatment and care is vital.

The presentation of TBDs in the adult population may differ from that in the child population.