HARD DECISIONS IN INTENSIVE CARE UNIT

Intensivecareunitkapak

DIFFICULT CASES OF RARE DISEASES

Ahmet Kaya

Şanliurfa Mehmet Akif İnan Training and Research Hospital, Department of Anesthesiology and Reanimation, Şanlıurfa, Türkiye

Kaya A. Difficult Cases of Rare Diseases. In: Turan S, editor. Hard Decisions in Intensive Care Unit. 1st ed. Ankara: Türkiye Klinikleri; 2025. p.517-528.

ABSTRACT

The concept of rare diseases, which emerged in the 1980s, refers to chronic, progressive conditions affecting a small proportion of the population. In the EU, a disease is classified as rare if its incidence is 1 in 2,000 or less, while different thresholds exist in the USA and Japan. Approximately 8,000 rare diseases are currently recognised worldwide, with new cases being added every year. Most of these diseases (71.9 %) are genetic and about 70 % occur in childhood. Due to their rarity, developing treatments remains challenging, as patient recruitment for clinical trials is limited.

As with other diseases, patients with rare diseases undergo diagnosis, treatment and follow-up. However, unlike many common diseases, these processes are quite long and challenging in rare diseases. While the correct diagnosis of many rare diseases takes many years, treatment options are very limited and the diagnosis-treatment-follow-up process often requires a multidisciplinary approach. Individuals affected by these diseases often have short life expectancy and low quality of life.

X-linked adrenoleukodystrophy (ALD), characterised by the accumulation of very long chain fatty acids (VLCFAs) resulting in peroxisomal beta-oxidation, is asymptomatic at birth; however, adrenal insufficiency, leukodystrophy and myeloneuropathy occur throughout life. Amyotrophic lateral sclerosis (ALS) is a progressive, currently incurable neurodegenerative disease characterised by axial weakness, bulbar dysfunction, extrapyramidal symptoms, autonomic symptoms, leading to muscle weakness, disability and ultimately death. Duchenne muscular dystrophy (DMD) is a genetically inherited, progressive and fatal neuromuscular disease that occurs as a result of gene mutations and develops with degeneration of skeletal muscles, smooth muscles and heart muscle. Idiopathic systemic capillary leak syndrome (ISCLS) is a rare disease characterised by severe hypotension, hypoalbuminaemia and hemoconcentration episodes. Idiopathic pulmonary fibrosis (IPF) is a spontaneous diffuse parenchymal lung disease, also called idiopathic interstitial pneumonia. Symptoms include dyspnea, persistent cough, fatigue, fever, myalgia and arthralgia, and there is usually a history of long-term smoking.

Treatment in intensive care is usually symptomatic and knowledge of the systems involved can improve patient management. This section of the book aims to summarise the symptoms and specific treatments of certain rare diseases such as Adrenoleukodystrophy, Amyotrophic Lateral Sclerosis, Duchenne Muscular Dystrophy, Idiopathic Systemic Capillary Leak Syndrome and Idiopathic Pulmonary Fibrosis.

Keywords: Rare diseases; Diagnosis; Adrenoleukodystrophy; Amyotrophic lateral sclerosis; Muscular dystrophy; Capillary leak syndrome; Pulmonary fibrosis

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