Pulmonary Hypertension and Hypocholesterolemia Secondary to Thyrotoxicosis

Background. Thyroid disorders commonly affect the cardiovascular system. Thyrotoxicosis leading to pulmonary hypertension has been increasingly reported during recent years. Thyroid dysfunction affects the lipid metabolism, and thyrotoxicosis can be associated with low lipid levels. Thyrotoxicosis presenting with right ventricular dysfunction is rare, and only few cases had been reported. Case Presentation. A 53-year-old woman presented with progressive shortness of breath and swelling of body for four months. Examination showed generalized oedema and a systolic murmur over the left sternal border. Transthoracic echocardiography confirmed pulmonary hypertension with tricuspid regurgitation. Investigations revealed thyrotoxicosis and very low cholesterol levels. Diagnosis of Graves’ disease was confirmed with detection of thyrotropin receptor antibodies. Pulmonary pressure was normalized six months after antithyroid therapy. Conclusion. Thyrotoxicosis is a recognized cause of reversible pulmonary hypertension and acquired hypocholesterolemia. However, most clinicians are not aware of these associations. This case illustrates the importance of assessing thyroid function in patients presenting with pulmonary hypertension

Lipin-1 Deficiency-Associated Recurrent Rhabdomyolysis and Exercise-Induced Myalgia Persisting into Adulthood: A Case Report and Review of Literature

Phosphatidate phosphatase-1 (lipin-1) is encoded by LPIN1 gene. Lipin-1 deficiency has been reported as the second most common cause of early-onset rhabdomyolysis after primary fatty acid oxidation disorders. We report a case of a 32-year-old Sri Lankan female with a history of more than 10 episodes of rhabdomyolysis and exercise intolerance since childhood. These episodes were triggered by infections and exercise. A temporal relationship between the acute episodes and use of drugs such as theophylline, mefenamic acid, co-trimoxazole, and combined oral contraceptive pills was also noted. There was marked elevation of serum creatine kinase and transaminases during acute episodes. Family history revealed parental consanguinity and an affected sibling who died of an acute episode associated with muscle weakness, dark coloured urine, and cyanosis, at the age of 2 years. The histochemical findings of the patient under discussion were consistent with a metabolic myopathy affecting membrane integrity. A homozygous, likely pathogenic variant c.1684G>T encoding p.(Glu562∗) was identified by clinical exome sequencing. Even though the studies to date give no convincing evidence of a possible causal or contributory relationship between the drugs under discussion and lipin-1 related rhabdomyolysis, this case highlights the importance of pharmacovigilance and reporting adverse drug reactions in patients with lipin-1 deficiency

Variation of serum S1P levels throughout the course of the illness in patients with DF and DHF.

<p>A: S1P levels in patients with DHF (n = 22). The bars indicate the mean and the standard error of the mean. The time of onset of fever was considered as 0 hours and the number of hours of illness considered from the time of onset of fever. B: S1P levels in patients with DF(n = 10). The bars indicate the mean and the standard error of the mean. The time of onset of fever was considered as 0 hours and the number of hours of illness considered from the time of onset of fever.</p

Clinical and laboratory characteristics of the 60 patients recruited.

<p>Clinical and laboratory characteristics of the 60 patients recruited.</p

Clinical and laboratory characteristics of the patients in whom serial S1P levels were determined.

<p>DHF1: Grade I DHF, DHF2: grade II DHF, DHF3: grade III DHF.</p><p>Clinical and laboratory characteristics of the patients in whom serial S1P levels were determined.</p

Variation of serum S1P levels in patients with DF:

<p>Kinetics of S1P levels in 4 patients with DF.</p

Correlation of serial serum S1P levels with serial platelet counts in patients with DF (n = 10) and DHF (n = 22).

<p>Spearmans r = 0.18, p = 0.04.</p

S1P levels in patients with grade IV DHF, patients with DF and healthy individuals.

<p>Serum S1P was measured by quantitative ELISA in individuals with grade IV DHF (n = 8), DF (n = 20) and healthy controls (n = 12). The lines represent the mean and the error bars represent the standard error of mean. ***p = 0.005.</p