Notable Diseases Starting with F: Fabry, Factor V Leiden, FAP, Fibromyalgia, and More

A curated overview of significant medical conditions beginning with "F," highlighting key features, genetics, and clinical relevance.

Genetic/Metabolic Disorders

Fabry Disease (Anderson-Fabry)

• X-linked lysosomal storage disorder: α-galactosidase A deficiency → globotriaosylceramide (Gb3) accumulation.
• Multi-system: acroparesthesias, angiokeratomas, hypohidrosis, corneal verticillata, cardiomyopathy, CKD, stroke/TIA.
• Treatment: Enzyme replacement (agalsidase alfa/beta), chaperone therapy (migalastat for amenable mutations).

Factor V Leiden (Activated Protein C Resistance)

• Autosomal dominant: F5 gene mutation (R506Q) → Factor Va resistant to APC inactivation.
• Most common inherited thrombophilia (5% Caucasians heterozygous).
• Risk: Heterozygous 3–8x VTE; homozygous 50–100x. No increased arterial risk.
• Management: Situational prophylaxis (surgery, pregnancy, OCP); not lifelong anticoagulation without thrombosis.

Familial Adenomatous Polyposis (FAP)

• Autosomal dominant: APC gene mutation → 100s–1000s colorectal adenomas; 100% CRC risk by 40–50 if untreated.
• Attenuated FAP (AFAP): Fewer polyps, later onset.
• Extra-colonic: Duodenal adenomas, desmoids, thyroid cancer, CHRPE, osteomas.
• Management: Annual colonoscopy from teens; prophylactic colectomy (usually 20s); upper GI surveillance.

Chronic Pain & Rheumatology

Fibromyalgia

• Central sensitization syndrome: widespread pain ≥3 months, fatigue, unrefreshing sleep, cognitive dysfunction ("fibro fog").
• Diagnosis: 2016 ACR criteria (widespread pain index + symptom severity); exclusion of mimics.
• Treatment: Multimodal – aerobic exercise, CBT, duloxetine/milnacipran/pregabalin, sleep hygiene.

Infectious Diseases

Influenza (Flu)

• Orthomyxoviridae (A, B); seasonal epidemics, occasional pandemics.
• Symptoms: abrupt fever, myalgia, headache, cough, sore throat.
• Complications: pneumonia, myocarditis, encephalitis, Reye's (children + aspirin).
• Prevention: Annual quadrivalent vaccine; antivirals (oseltamivir, baloxavir) if early.

Fungal Infections (Mycoses)

• Superficial: Dermatophytosis (tinea), candidiasis, pityriasis versicolor.
• Subcutaneous: Sporotrichosis, chromoblastomycosis.
• Systemic/opportunistic: Aspergillosis, candidemia, cryptococcosis, histoplasmosis, mucormycosis – in immunocompromised.

Neurological

Frontotemporal Dementia (FTD)

• Group of disorders: behavioral variant (bvFTD), primary progressive aphasia (PPA).
• Onset 45–65; earlier than AD. Frontal/temporal atrophy.
• Genetics: 40% familial; C9orf72, MAPT, GRN mutations.
• Management: Symptomatic (SSRIs for disinhibition, speech therapy for PPA); no disease-modifying therapy.

Other Notable "F" Conditions

• Familial Mediterranean Fever (FMF): Autosomal recessive (MEFV); recurrent serositis, amyloidosis; colchicine prevents attacks.
• Fragile X Syndrome: X-linked (FMR1 CGG repeat); most common inherited intellectual disability.
• Friedreich's Ataxia: Autosomal recessive (GAA repeat in FXN); gait ataxia, cardiomyopathy, diabetes.
• Fournier's Gangrene: Necrotizing fasciitis of perineum/genitalia; urologic/surgical emergency.

These conditions span genetics, metabolism, neurology, rheumatology, and infectious disease – illustrating the breadth of medical nomenclature.